Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective...
Saved in:
| Published in | American journal of human genetics Vol. 98; no. 5; pp. 1011 - 1019 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
05.05.2016
Cell Press Elsevier (Cell Press) Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2016.03.021 |
Cover
| Abstract | Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339∗]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339∗]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. |
|---|---|
| AbstractList | Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339∗]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339∗]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339*]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339*]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gaβ...) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. (ProQuest: ... denotes formulae/symbols omitted.) Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339 super([lowast])]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339 super([lowast])]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the beta subunit of G protein heterotrimer (G alpha beta gamma ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339(∗)]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339(∗)]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339(∗)]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339(∗)]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling.Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339(∗)]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339(∗)]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. |
| Author | Michiels, Christelle Koenekoop, Robert Tavares, Erika Condroyer, Christel Leroy, Bart P. Wright, Thomas Li, Shuning Mohand-Saïd, Saddek Kellner, Ulrich Zeitz, Christina Friedburg, Christoph Munier, Francis Verdet, Robert Sahel, José-Alain Tumber, Anupreet Meire, Francoise Schwartz, Sharon de Ravel, Thomy Kohl, Susanne Lorenz, Birgit Reiff, Charlotte M. Vincent, Ajoy Gottlob, Irene Sharon, Dror MacDonald, Heather Bocquet, Beatrice Héon, Elise Jacobson, Samuel G. Meunier, Isabelle Hamel, Christian P. Maynes, Jason T. Casteels, Ingele McLean, Rebecca Defoort-Dhellemmes, Sabine Audo, Isabelle Banin, Eyal De Baere, Elfride Schorderet, Daniel Zanlonghi, Xavier Drumare, Isabelle |
| AuthorAffiliation | 10 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada 11 Eye Center, 3 Rue Rigoberta Menchu, 84000 Avignon, France 14 INSERM U 1051, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, 34295 Montpellier Cedex 05, France 6 Institute of Ophthalmology, University College of London, London EC1V 9EL, UK 1 Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada 15 Affections Sensorielles Génétiques, CHU de Montpellier, 191 Avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex, France 8 Program in Molecular Structure and Function, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada 4 INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France 13 Academie des Sciences, Institut de France, 75006 Paris, France 9 Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada 5 INSERM-DHOS CIC1423, Cent |
| AuthorAffiliation_xml | – name: 5 INSERM-DHOS CIC1423, Centre Hospitalier National d’Ophtalmologie (CHNO) des Quinze-Vingts, DHU Sight Restore, 28 Rue de Charenton, 75012 Paris, France – name: 13 Academie des Sciences, Institut de France, 75006 Paris, France – name: 7 Department of Anesthesia and Pain Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – name: 9 Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada – name: 8 Program in Molecular Structure and Function, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada – name: 1 Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – name: 6 Institute of Ophthalmology, University College of London, London EC1V 9EL, UK – name: 16 Université Montpellier, 163 Avenue Auguste Broussonnet, 34090 Montpellier, France – name: 14 INSERM U 1051, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, 34295 Montpellier Cedex 05, France – name: 2 Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada – name: 15 Affections Sensorielles Génétiques, CHU de Montpellier, 191 Avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex, France – name: 10 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – name: 11 Eye Center, 3 Rue Rigoberta Menchu, 84000 Avignon, France – name: 12 Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France – name: 3 Department of Ophthalmology, University of Toronto, 340 College Street, Toronto, ON M5T 3A9, Canada – name: 4 INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France |
| Author_xml | – sequence: 1 givenname: Ajoy surname: Vincent fullname: Vincent, Ajoy organization: Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – sequence: 2 givenname: Isabelle surname: Audo fullname: Audo, Isabelle organization: INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France – sequence: 3 givenname: Erika surname: Tavares fullname: Tavares, Erika organization: Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada – sequence: 4 givenname: Jason T. surname: Maynes fullname: Maynes, Jason T. organization: Department of Anesthesia and Pain Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – sequence: 5 givenname: Anupreet surname: Tumber fullname: Tumber, Anupreet organization: Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – sequence: 6 givenname: Thomas surname: Wright fullname: Wright, Thomas organization: Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – sequence: 7 givenname: Shuning surname: Li fullname: Li, Shuning organization: Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada – sequence: 8 givenname: Christelle surname: Michiels fullname: Michiels, Christelle organization: INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France – sequence: 9 givenname: Eyal surname: Banin fullname: Banin, Eyal – sequence: 10 givenname: Beatrice surname: Bocquet fullname: Bocquet, Beatrice – sequence: 11 givenname: Elfride surname: De Baere fullname: De Baere, Elfride – sequence: 12 givenname: Ingele surname: Casteels fullname: Casteels, Ingele – sequence: 13 givenname: Sabine surname: Defoort-Dhellemmes fullname: Defoort-Dhellemmes, Sabine – sequence: 14 givenname: Isabelle surname: Drumare fullname: Drumare, Isabelle – sequence: 15 givenname: Christoph surname: Friedburg fullname: Friedburg, Christoph – sequence: 16 givenname: Irene surname: Gottlob fullname: Gottlob, Irene – sequence: 17 givenname: Samuel G. surname: Jacobson fullname: Jacobson, Samuel G. – sequence: 18 givenname: Ulrich surname: Kellner fullname: Kellner, Ulrich – sequence: 19 givenname: Robert surname: Koenekoop fullname: Koenekoop, Robert – sequence: 20 givenname: Susanne surname: Kohl fullname: Kohl, Susanne – sequence: 21 givenname: Bart P. surname: Leroy fullname: Leroy, Bart P. – sequence: 22 givenname: Birgit surname: Lorenz fullname: Lorenz, Birgit – sequence: 23 givenname: Rebecca surname: McLean fullname: McLean, Rebecca – sequence: 24 givenname: Francoise surname: Meire fullname: Meire, Francoise – sequence: 25 givenname: Isabelle surname: Meunier fullname: Meunier, Isabelle – sequence: 26 givenname: Francis surname: Munier fullname: Munier, Francis – sequence: 27 givenname: Thomy surname: de Ravel fullname: de Ravel, Thomy – sequence: 28 givenname: Charlotte M. surname: Reiff fullname: Reiff, Charlotte M. – sequence: 29 givenname: Saddek surname: Mohand-Saïd fullname: Mohand-Saïd, Saddek – sequence: 30 givenname: Dror surname: Sharon fullname: Sharon, Dror – sequence: 31 givenname: Daniel surname: Schorderet fullname: Schorderet, Daniel – sequence: 32 givenname: Sharon surname: Schwartz fullname: Schwartz, Sharon – sequence: 33 givenname: Xavier surname: Zanlonghi fullname: Zanlonghi, Xavier – sequence: 34 givenname: Christel surname: Condroyer fullname: Condroyer, Christel organization: INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France – sequence: 35 givenname: Heather surname: MacDonald fullname: MacDonald, Heather organization: Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada – sequence: 36 givenname: Robert surname: Verdet fullname: Verdet, Robert organization: Eye Center, 3 Rue Rigoberta Menchu, 84000 Avignon, France – sequence: 37 givenname: José-Alain surname: Sahel fullname: Sahel, José-Alain organization: INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France – sequence: 38 givenname: Christian P. surname: Hamel fullname: Hamel, Christian P. organization: INSERM U 1051, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, 34295 Montpellier Cedex 05, France – sequence: 39 givenname: Christina surname: Zeitz fullname: Zeitz, Christina organization: INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France – sequence: 40 givenname: Elise surname: Héon fullname: Héon, Elise email: elise.heon@sickkids.ca organization: Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27063057$$D View this record in MEDLINE/PubMed https://hal.science/hal-01872153$$DView record in HAL |
| BookMark | eNqNkktvEzEUhS1URNvAH2CBLLGBxYTrGT9mJISURLRFCkUCurYc507iaGKn45mg_nscpryyKCwsW_Y5x77f9Tk58cEjIc8ZjBkw-WYzNpv1apyn9RiKMeTsETljolCZlCBOyBkA5FmVV-qUnMe4AWCshOIJOc0VyAKEOiPN1JmmwcZZ-rHvTOeCj9R5enk9LejM9BGpoTfe3fZIL0K7paGmk74LMWxNk31GizG6PdJZ8Cv0rjMN_TLEmPaOXrvVuqPTxvmlT8Kn5HFtmojP7ucRubl4_3V2lc0_XX6YTeaZFQK6jHPGS2VsaeWi5PUSawVFWeRQL4oaKxRcgJUCJFtwYZXMOZNC1KikEjWvWDEixZDb-525-5YK1LvWbdOLNAN9YKc3-sBOH9hpKHRil1zvBteuX2xxadF3rfntDMbpv0-8W-tV2GteSlUxSAGvh4D1ke1qMteHPWClylOD9ofLXt1f1obENnZ666LFpjEeQx91alQpK8Z-xP5DqkrF00jBI_LySLoJfesT66SqgFccuEqqF38W-uupP39FEpSDwLYhxhZrbd3Q1FS3ax6GmB9Z_4v828GE6VPsHbY6Wofe4tK1aDu9DO4h-3fh1fC0 |
| CitedBy_id | crossref_primary_10_1016_j_preteyeres_2017_03_003 crossref_primary_10_1080_13816810_2023_2283415 crossref_primary_10_1038_s41588_018_0127_7 crossref_primary_10_1007_s00018_019_03324_w crossref_primary_10_1080_13816810_2019_1698617 crossref_primary_10_1111_ceo_14511 crossref_primary_10_1159_000462961 crossref_primary_10_1016_j_ophtha_2017_02_005 crossref_primary_10_1097_IAE_0000000000002426 crossref_primary_10_1167_iovs_62_5_5 crossref_primary_10_3390_cells8121567 crossref_primary_10_3389_fgene_2018_00626 crossref_primary_10_1038_s41467_022_31508_9 crossref_primary_10_1159_000520895 crossref_primary_10_1093_gigascience_giac112 crossref_primary_10_1186_s12886_020_01381_5 crossref_primary_10_1007_s10633_019_09735_1 crossref_primary_10_1016_j_jfo_2020_07_017 crossref_primary_10_1007_s10142_024_01471_3 crossref_primary_10_1167_iovs_61_10_36 crossref_primary_10_1016_j_ajhg_2016_06_025 crossref_primary_10_1016_j_cellsig_2021_109947 crossref_primary_10_1161_CIRCRESAHA_117_310953 crossref_primary_10_1136_jmedgenet_2020_107015 crossref_primary_10_1016_j_preteyeres_2017_06_004 crossref_primary_10_1080_13816810_2020_1790013 crossref_primary_10_1161_CIRCRESAHA_116_310112 crossref_primary_10_1038_s41559_018_0569_4 crossref_primary_10_1111_aos_14693 crossref_primary_10_1136_jmedgenet_2017_104837 crossref_primary_10_1016_j_ebiom_2022_104161 crossref_primary_10_1111_aos_15186 crossref_primary_10_1016_j_ecoenv_2019_06_042 |
| Cites_doi | 10.1038/371297a0 10.1126/science.3529395 10.1016/0002-9394(54)90011-2 10.1523/JNEUROSCI.22-12-04878.2002 10.1086/508944 10.1111/cge.12746 10.1016/j.ejcb.2015.06.005 10.1016/j.ceca.2010.08.004 10.1007/s10633-008-9155-4 10.1016/j.tips.2006.03.005 10.1364/JOSAA.13.000557 10.1016/j.ajhg.2012.10.023 10.1097/00001756-200006260-00018 10.1146/annurev.pharmtox.37.1.167 10.1002/cne.10396 10.1167/iovs.06-0292 10.1038/379369a0 10.1534/genetics.108.088807 10.1074/jbc.270.15.8495 10.1136/jmedgenet-2014-102620 10.1038/nature09534 10.1038/nsmb.1377 10.1016/S0021-9258(18)35831-9 10.1016/j.ajhg.2011.12.007 10.1016/j.ophtha.2013.03.002 10.1038/ng0894-551c 10.1007/s10633-014-9473-7 10.1080/02713680701823232 10.1038/ng0198-45 10.1038/ng0796-358 10.1021/bi9612879 10.1017/S0952523800002431 10.1681/ASN.V1091921 10.1038/940 10.1016/j.neuroscience.2010.05.081 10.1523/JNEUROSCI.0132-09.2009 10.1159/000301211 10.1073/pnas.0501233102 10.1167/iovs.11-8026 10.1523/JNEUROSCI.1436-12.2012 10.1523/JNEUROSCI.5204-12.2013 10.1016/j.ajhg.2011.12.006 10.1098/rstb.2009.0077 10.1002/bies.200900198 10.1038/81619 10.1523/JNEUROSCI.20-24-09053.2000 10.1016/0092-8674(95)90354-2 10.1016/j.preteyeres.2014.09.001 10.1085/jgp.201010477 10.1038/947 10.1016/j.ajhg.2009.10.003 10.1086/508067 10.1101/gr.6.4.314 10.1038/ng0793-280 10.1073/pnas.1305999110 10.1073/pnas.89.22.10882 10.1073/pnas.0912730107 10.1073/pnas.0908711106 10.1093/bioinformatics/bts199 10.1038/81627 10.1016/j.ajhg.2010.08.013 10.1007/s10633-014-9453-y 10.1364/JOSAA.13.000623 10.1001/archopht.1986.01050190071042 10.1038/nprot.2015.053 10.1016/j.ajhg.2009.10.012 10.1038/nrn3783 10.1016/j.neurobiolaging.2003.10.006 10.1016/j.ajhg.2009.10.013 |
| ContentType | Journal Article |
| Contributor | De Baere, Elfride Leroy, Bart P Koenekoop, Robert Mohand-Saïd, Saddek Kellner, Ulrich Friedburg, Christoph Munier, Francis Meire, Francoise de Ravel, Thomy Schwartz, Sharon Kohl, Susanne Lorenz, Birgit Gottlob, Irene Sharon, Dror Bocquet, Beatrice Jacobson, Samuel G Meunier, Isabelle Reiff, Charlotte M Casteels, Ingele McLean, Rebecca Defoort-Dhellemmes, Sabine Banin, Eyal Schorderet, Daniel Zanlonghi, Xavier Drumare, Isabelle |
| Contributor_xml | – sequence: 1 givenname: Eyal surname: Banin fullname: Banin, Eyal – sequence: 2 givenname: Beatrice surname: Bocquet fullname: Bocquet, Beatrice – sequence: 3 givenname: Elfride surname: De Baere fullname: De Baere, Elfride – sequence: 4 givenname: Ingele surname: Casteels fullname: Casteels, Ingele – sequence: 5 givenname: Sabine surname: Defoort-Dhellemmes fullname: Defoort-Dhellemmes, Sabine – sequence: 6 givenname: Isabelle surname: Drumare fullname: Drumare, Isabelle – sequence: 7 givenname: Christoph surname: Friedburg fullname: Friedburg, Christoph – sequence: 8 givenname: Irene surname: Gottlob fullname: Gottlob, Irene – sequence: 9 givenname: Samuel G surname: Jacobson fullname: Jacobson, Samuel G – sequence: 10 givenname: Ulrich surname: Kellner fullname: Kellner, Ulrich – sequence: 11 givenname: Robert surname: Koenekoop fullname: Koenekoop, Robert – sequence: 12 givenname: Susanne surname: Kohl fullname: Kohl, Susanne – sequence: 13 givenname: Bart P surname: Leroy fullname: Leroy, Bart P – sequence: 14 givenname: Birgit surname: Lorenz fullname: Lorenz, Birgit – sequence: 15 givenname: Rebecca surname: McLean fullname: McLean, Rebecca – sequence: 16 givenname: Francoise surname: Meire fullname: Meire, Francoise – sequence: 17 givenname: Isabelle surname: Meunier fullname: Meunier, Isabelle – sequence: 18 givenname: Francis surname: Munier fullname: Munier, Francis – sequence: 19 givenname: Thomy surname: de Ravel fullname: de Ravel, Thomy – sequence: 20 givenname: Charlotte M surname: Reiff fullname: Reiff, Charlotte M – sequence: 21 givenname: Saddek surname: Mohand-Saïd fullname: Mohand-Saïd, Saddek – sequence: 22 givenname: Dror surname: Sharon fullname: Sharon, Dror – sequence: 23 givenname: Daniel surname: Schorderet fullname: Schorderet, Daniel – sequence: 24 givenname: Sharon surname: Schwartz fullname: Schwartz, Sharon – sequence: 25 givenname: Xavier surname: Zanlonghi fullname: Zanlonghi, Xavier |
| Copyright | 2016 The American Society of Human Genetics Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press May 5, 2016 Distributed under a Creative Commons Attribution 4.0 International License 2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics |
| Copyright_xml | – notice: 2016 The American Society of Human Genetics – notice: Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. – notice: Copyright Cell Press May 5, 2016 – notice: Distributed under a Creative Commons Attribution 4.0 International License – notice: 2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics |
| CorporateAuthor | GNB3 Consortium |
| CorporateAuthor_xml | – name: GNB3 Consortium |
| DBID | 6I. AAFTH AAYXX CITATION CGR CUY CVF ECM EIF NPM 7QP 7TK 7TM 7U7 8FD C1K FR3 K9. NAPCQ P64 RC3 7X8 1XC 5PM ADTOC UNPAY |
| DOI | 10.1016/j.ajhg.2016.03.021 |
| DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Nucleic Acids Abstracts Toxicology Abstracts Technology Research Database Environmental Sciences and Pollution Management Engineering Research Database ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic Hyper Article en Ligne (HAL) PubMed Central (Full Participant titles) Unpaywall for CDI: Periodical Content Unpaywall |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Nursing & Allied Health Premium Genetics Abstracts Technology Research Database Toxicology Abstracts Nucleic Acids Abstracts ProQuest Health & Medical Complete (Alumni) Engineering Research Database Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Biotechnology and BioEngineering Abstracts Environmental Sciences and Pollution Management MEDLINE - Academic |
| DatabaseTitleList | Nursing & Allied Health Premium Genetics Abstracts MEDLINE - Academic MEDLINE |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: UNPAY name: Unpaywall url: https://proxy.k.utb.cz/login?url=https://unpaywall.org/ sourceTypes: Open Access Repository |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Biology |
| EISSN | 1537-6605 |
| EndPage | 1019 |
| ExternalDocumentID | 10.1016/j.ajhg.2016.03.021 PMC4867910 oai:HAL:hal-01872153v1 4064651351 27063057 10_1016_j_ajhg_2016_03_021 S0002929716300568 |
| Genre | Research Support, Non-U.S. Gov't Journal Article Feature |
| GroupedDBID | --- --K --Z -~X 0R~ 123 1~5 23M 2WC 4.4 457 4G. 53G 5GY 62- 6I. 6J9 7-5 85S AACTN AAEDT AAEDW AAFTH AAIAV AAKRW AALRI AAUCE AAVLU AAWTL AAXJY AAXUO ABJNI ABMAC ABMWF ABOCM ABVKL ACGFO ACGFS ACGOD ACNCT ACPRK ADBBV ADEZE ADJPV AENEX AEXQZ AFRAH AFTJW AGKMS AHMBA AITUG ALKID ALMA_UNASSIGNED_HOLDINGS AMRAJ AOIJS ASPBG AVWKF AZFZN BAWUL CS3 D0L DIK E3Z EBS ECV EJD F5P FCP FDB FEDTE GX1 HVGLF HYE IH2 IHE IXB JIG KQ8 L7B M41 NCXOZ O-L O9- OK1 P2P PQQKQ RCE RIG RNS ROL RPM RPZ SES SJN SSZ TN5 TR2 TWZ UHB UKR UNMZH UPT VQA WH7 WQ6 ZA5 ZCA .55 .GJ 34R 3O- 41~ AAFWJ AAIKJ AAMRU AAQXK AAYWO AAYXX ABDGV ABWVN ACKIV ACRPL ACVFH ADCNI ADMUD ADNMO ADVLN ADXHL AEUPX AFPUW AGCDD AGHFR AGQPQ AI. AIGII AKAPO AKBMS AKRWK AKYEP APXCP C1A CITATION EFKBS FA8 FGOYB HZ~ MVM NEJ OHT OZT R2- VH1 WOQ X7M XOL ZCG ZGI ZXP 0SF CGR CUY CVF ECM EIF NPM Z5M 7QP 7TK 7TM 7U7 8FD ABUFD C1K FR3 K9. NAPCQ P64 RC3 7X8 1XC 5PM ADTOC UNPAY |
| ID | FETCH-LOGICAL-c550t-441487ac8c6b84fdef7038320fb3fe9e5450c65061b45c76241655fe7675f4913 |
| IEDL.DBID | IXB |
| ISSN | 0002-9297 1537-6605 |
| IngestDate | Wed Oct 29 12:01:32 EDT 2025 Tue Sep 30 16:41:39 EDT 2025 Tue Oct 14 20:57:38 EDT 2025 Tue Oct 07 09:22:21 EDT 2025 Sat Sep 27 21:35:50 EDT 2025 Mon Oct 06 17:01:57 EDT 2025 Wed Feb 19 02:41:04 EST 2025 Wed Oct 01 04:19:16 EDT 2025 Thu Apr 24 23:03:48 EDT 2025 Fri Feb 23 02:29:28 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 5 |
| Keywords | exome G-protein beta 3 subunit light signal transduction congenital stationary retinal dystrophies human GNB3 night blindness |
| Language | English |
| License | This article is made available under the Elsevier license. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c550t-441487ac8c6b84fdef7038320fb3fe9e5450c65061b45c76241655fe7675f4913 |
| Notes | SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 14 ObjectType-Article-1 ObjectType-Feature-2 content type line 23 PMCID: PMC4867910 These authors contributed equally to this work |
| ORCID | 0000-0003-0698-5309 0000-0002-3510-1712 0000-0002-4831-1153 |
| OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S0002929716300568 |
| PMID | 27063057 |
| PQID | 1790494047 |
| PQPubID | 24320 |
| PageCount | 9 |
| ParticipantIDs | unpaywall_primary_10_1016_j_ajhg_2016_03_021 pubmedcentral_primary_oai_pubmedcentral_nih_gov_4867910 hal_primary_oai_HAL_hal_01872153v1 proquest_miscellaneous_1808691110 proquest_miscellaneous_1787478715 proquest_journals_1790494047 pubmed_primary_27063057 crossref_citationtrail_10_1016_j_ajhg_2016_03_021 crossref_primary_10_1016_j_ajhg_2016_03_021 elsevier_sciencedirect_doi_10_1016_j_ajhg_2016_03_021 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2016-05-05 |
| PublicationDateYYYYMMDD | 2016-05-05 |
| PublicationDate_xml | – month: 05 year: 2016 text: 2016-05-05 day: 05 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Chicago |
| PublicationTitle | American journal of human genetics |
| PublicationTitleAlternate | Am J Hum Genet |
| PublicationYear | 2016 |
| Publisher | Elsevier Inc Cell Press Elsevier (Cell Press) Elsevier |
| Publisher_xml | – name: Elsevier Inc – name: Cell Press – name: Elsevier (Cell Press) – name: Elsevier |
| References | Pusch, Zeitz, Brandau, Pesch, Achatz, Feil, Scharfe, Maurer, Jacobi, Pinckers (bib18) 2000; 26 Peachey, Ray, Florijn, Rowe, Sjoerdsma, Contreras-Alcantara, Baba, Tosini, Pozdeyev, Iuvone (bib24) 2012; 90 Zeitz, Jacobson, Hamel, Bujakowska, Neuillé, Orhan, Zanlonghi, Lancelot, Michiels, Schwartz (bib25) 2013; 92 Gal, Orth, Baehr, Schwinger, Rosenberg (bib11) 1994; 7 Nikonov, Lyubarsky, Fina, Nikonova, Sengupta, Chinniah, Ding, Smith, Pugh, Vardi, Dhingra (bib42) 2013; 33 Larhammar, Nordström, Larsson (bib47) 2009; 364 Marmor, Fulton, Holder, Miyake, Brigell, Bach (bib30) 2009; 118 Bullido, Ramos, Ruiz-Gómez, Tutor, Sastre, Frank, Coria, Gil, Mayor, Valdivieso (bib70) 2004; 25 Audo, Bujakowska, Orhan, Poloschek, Defoort-Dhellemmes, Drumare, Kohl, Luu, Lecompte, Zrenner (bib23) 2012; 90 Vincent, Forster, Maynes, Paton, Billingsley, Roslin, Ali, Sutherland, Wright, Westall (bib32) 2014; 51 Neer, Schmidt, Nambudripad, Smith (bib38) 1994; 371 Hood, Birch (bib6) 1996; 13 Dhingra, Ramakrishnan, Neinstein, Fina, Xu, Li, Chung, Lyubarsky, Vardi (bib35) 2012; 32 Dhingra, Lyubarsky, Jiang, Pugh, Birnbaumer, Sterling, Vardi (bib53) 2000; 20 Zeitz, Robson, Audo (bib1) 2015; 45 Strom, Nyakatura, Apfelstedt-Sylla, Hellebrand, Lorenz, Weber, Wutz, Gutwillinger, Rüther, Drescher (bib26) 1998; 19 Bech-Hansen, Naylor, Maybaum, Pearce, Koop, Fishman, Mets, Musarella, Boycott (bib27) 1998; 19 Morgans, Brown, Duvoisin (bib57) 2010; 32 Bush, Sieving (bib5) 1996; 13 Bush, Sieving (bib4) 1994; 35 Zill, Baghai, Zwanzger, Schüle, Minov, Riedel, Neumeier, Rupprecht, Bondy (bib68) 2000; 11 Abecasis, Altshuler, Auton, Brooks, Durbin, Gibbs, Hurles, McVean (bib33) 2010; 467 Lee, Lieberman, Yamane, Bok, Fung (bib46) 1992; 267 Morgans, Zhang, Jeffrey, Nelson, Burke, Duvoisin, Brown (bib61) 2009; 106 McCulloch, Marmor, Brigell, Hamilton, Holder, Tzekov, Bach (bib2) 2015; 130 Schubert, Bornschein (bib9) 1952; 123 Ansari-Lari, Muzny, Lu, Lu, Lilley, Spanos, Malley, Gibbs (bib36) 1996; 6 Ritchey, Bongini, Code, Zelinka, Petersen-Jones, Fischer (bib44) 2010; 169 Kelley, Mezulis, Yates, Wass, Sternberg (bib40) 2015; 10 Masu, Iwakabe, Tagawa, Miyoshi, Yamashita, Fukuda, Sasaki, Hiroi, Nakamura, Shigemoto (bib63) 1995; 80 Clapham, Neer (bib37) 1997; 37 Dhingra, Jiang, Wang, Lyubarsky, Savchenko, Bar-Yehuda, Sterling, Birnbaumer, Vardi (bib54) 2002; 22 Riggs (bib8) 1954; 38 Goldlust, Hermetz, Catalano, Barfield, Cozad, Wynn, Ozdemir, Conneely, Mulle, Dharamrup (bib72) 2013; 110 Miyake, Yagasaki, Horiguchi, Kawase, Kanda (bib16) 1986; 104 Ong, Yamane, Phan, Fong, Bok, Lee, Fung (bib49) 1995; 270 Dryja, McGee, Berson, Fishman, Sandberg, Alexander, Derlacki, Rajagopalan (bib19) 2005; 102 Lerea, Somers, Hurley, Klock, Bunt-Milam (bib48) 1986; 234 Bijveld, Florijn, Bergen, van den Born, Kamermans, Prick, Riemslag, van Schooneveld, Kappers, van Genderen (bib43) 2013; 120 Euler, Haverkamp, Schubert, Baden (bib51) 2014; 15 Gao, Danciger, Akhmedov, Zhao, Heckenlively, Fishman, Weleber, Jacobson, Farber (bib66) 1998; 4 Dragas, Westall, Wright (bib31) 2014; 129 Bellone, Brooks, Sandmeyer, Murphy, Forsyth, Archer, Bailey, Grahn (bib60) 2008; 179 Frishman (bib3) 2006 Peng, Robishaw, Levine, Yau (bib45) 1992; 89 Kearse, Moir, Wilson, Stones-Havas, Cheung, Sturrock, Buxton, Cooper, Markowitz, Duran (bib34) 2012; 28 Koike, Numata, Ueda, Mori, Furukawa (bib52) 2010; 48 Bech-Hansen, Naylor, Maybaum, Sparkes, Koop, Birch, Bergen, Prinsen, Polomeno, Gal (bib17) 2000; 26 van Genderen, Bijveld, Claassen, Florijn, Pearring, Meire, McCall, Riemslag, Gregg, Bergen, Kamermans (bib21) 2009; 85 Garcia-Higuera, Fenoglio, Li, Lewis, Panchenko, Reiner, Smith, Neer (bib59) 1996; 35 Okawa, Pahlberg, Rieke, Birnbaumer, Sampath (bib55) 2010; 136 Dryja, Hahn, Reboul, Arnaud (bib12) 1996; 13 Neuillé, Malaichamy, Vadalà, Michiels, Condroyer, Sachidanandam, Srilekha, Arokiasamy, Letexier, Démontant (bib15) 2016 Wycisk, Zeitz, Feil, Wittmer, Forster, Neidhardt, Wissinger, Zrenner, Wilke, Kohl, Berger (bib29) 2006; 79 Dryja, Berson, Rao, Oprian (bib10) 1993; 4 Huang, Max, Margolskee, Su, Masland, Euler (bib58) 2003; 455 Sieving, Murayama, Naarendorp (bib7) 1994; 11 Koyasu, Kondo, Miyata, Ueno, Miyata, Nishizawa, Terasaki (bib64) 2008; 33 Weinstein, Chen, Xie, Liu (bib71) 2006; 27 Tummala, Ali, Getty, Hocking, Burt, Inglehearn, Lester (bib65) 2006; 47 Naeem, Chavali, Ali, Iqbal, Riazuddin, Khan, Husnain, Sieving, Ayyagari, Riazuddin (bib14) 2012; 53 Koike, Obara, Uriu, Numata, Sanuki, Miyata, Koyasu, Ueno, Funabiki, Tani (bib56) 2010; 107 Audo, Kohl, Leroy, Munier, Guillonneau, Mohand-Saïd, Bujakowska, Nandrot, Lorenz, Preising (bib22) 2009; 85 Schneider, Mohr, Behrendt, Oberwinkler (bib50) 2015; 94 Riazuddin, Shahzadi, Zeitz, Ahmed, Ayyagari, Chavali, Ponferrada, Audo, Michiels, Lancelot (bib13) 2010; 87 Cheever, Snyder, Gershburg, Siderovski, Harden, Sondek (bib41) 2008; 15 Sondek, Bohm, Lambright, Hamm, Sigler (bib39) 1996; 379 Shen, Heimel, Kamermans, Peachey, Gregg, Nawy (bib62) 2009; 29 Li, Sergouniotis, Michaelides, Mackay, Wright, Devery, Moore, Holder, Robson, Webster (bib20) 2009; 85 Zeitz, Kloeckener-Gruissem, Forster, Kohl, Magyar, Wissinger, Mátyás, Borruat, Schorderet, Zrenner (bib28) 2006; 79 Siffert, Rosskopf, Siffert, Busch, Moritz, Erbel, Sharma, Ritz, Wichmann, Jakobs, Horsthemke (bib67) 1998; 18 Siffert, Forster, Jöckel, Mvere, Brinkmann, Naber, Crookes, Du P Heyns, Epplen, Fridey (bib69) 1999; 10 Lerea (10.1016/j.ajhg.2016.03.021_bib48) 1986; 234 Clapham (10.1016/j.ajhg.2016.03.021_bib37) 1997; 37 Masu (10.1016/j.ajhg.2016.03.021_bib63) 1995; 80 Dhingra (10.1016/j.ajhg.2016.03.021_bib53) 2000; 20 Bech-Hansen (10.1016/j.ajhg.2016.03.021_bib27) 1998; 19 Dryja (10.1016/j.ajhg.2016.03.021_bib10) 1993; 4 Kearse (10.1016/j.ajhg.2016.03.021_bib34) 2012; 28 Vincent (10.1016/j.ajhg.2016.03.021_bib32) 2014; 51 Ansari-Lari (10.1016/j.ajhg.2016.03.021_bib36) 1996; 6 Audo (10.1016/j.ajhg.2016.03.021_bib23) 2012; 90 Bullido (10.1016/j.ajhg.2016.03.021_bib70) 2004; 25 Zill (10.1016/j.ajhg.2016.03.021_bib68) 2000; 11 Riggs (10.1016/j.ajhg.2016.03.021_bib8) 1954; 38 Sondek (10.1016/j.ajhg.2016.03.021_bib39) 1996; 379 McCulloch (10.1016/j.ajhg.2016.03.021_bib2) 2015; 130 Kelley (10.1016/j.ajhg.2016.03.021_bib40) 2015; 10 Neuillé (10.1016/j.ajhg.2016.03.021_bib15) 2016 Zeitz (10.1016/j.ajhg.2016.03.021_bib1) 2015; 45 Hood (10.1016/j.ajhg.2016.03.021_bib6) 1996; 13 Abecasis (10.1016/j.ajhg.2016.03.021_bib33) 2010; 467 Larhammar (10.1016/j.ajhg.2016.03.021_bib47) 2009; 364 Bijveld (10.1016/j.ajhg.2016.03.021_bib43) 2013; 120 Gal (10.1016/j.ajhg.2016.03.021_bib11) 1994; 7 Lee (10.1016/j.ajhg.2016.03.021_bib46) 1992; 267 Wycisk (10.1016/j.ajhg.2016.03.021_bib29) 2006; 79 Siffert (10.1016/j.ajhg.2016.03.021_bib69) 1999; 10 Frishman (10.1016/j.ajhg.2016.03.021_bib3) 2006 Huang (10.1016/j.ajhg.2016.03.021_bib58) 2003; 455 Bellone (10.1016/j.ajhg.2016.03.021_bib60) 2008; 179 Shen (10.1016/j.ajhg.2016.03.021_bib62) 2009; 29 Audo (10.1016/j.ajhg.2016.03.021_bib22) 2009; 85 Goldlust (10.1016/j.ajhg.2016.03.021_bib72) 2013; 110 Dryja (10.1016/j.ajhg.2016.03.021_bib19) 2005; 102 Euler (10.1016/j.ajhg.2016.03.021_bib51) 2014; 15 Dryja (10.1016/j.ajhg.2016.03.021_bib12) 1996; 13 Garcia-Higuera (10.1016/j.ajhg.2016.03.021_bib59) 1996; 35 Schubert (10.1016/j.ajhg.2016.03.021_bib9) 1952; 123 Dhingra (10.1016/j.ajhg.2016.03.021_bib54) 2002; 22 Nikonov (10.1016/j.ajhg.2016.03.021_bib42) 2013; 33 Neer (10.1016/j.ajhg.2016.03.021_bib38) 1994; 371 Strom (10.1016/j.ajhg.2016.03.021_bib26) 1998; 19 Sieving (10.1016/j.ajhg.2016.03.021_bib7) 1994; 11 Bush (10.1016/j.ajhg.2016.03.021_bib4) 1994; 35 Bush (10.1016/j.ajhg.2016.03.021_bib5) 1996; 13 Schneider (10.1016/j.ajhg.2016.03.021_bib50) 2015; 94 Koyasu (10.1016/j.ajhg.2016.03.021_bib64) 2008; 33 Naeem (10.1016/j.ajhg.2016.03.021_bib14) 2012; 53 Pusch (10.1016/j.ajhg.2016.03.021_bib18) 2000; 26 Dhingra (10.1016/j.ajhg.2016.03.021_bib35) 2012; 32 Okawa (10.1016/j.ajhg.2016.03.021_bib55) 2010; 136 Siffert (10.1016/j.ajhg.2016.03.021_bib67) 1998; 18 Ong (10.1016/j.ajhg.2016.03.021_bib49) 1995; 270 Tummala (10.1016/j.ajhg.2016.03.021_bib65) 2006; 47 Weinstein (10.1016/j.ajhg.2016.03.021_bib71) 2006; 27 Peng (10.1016/j.ajhg.2016.03.021_bib45) 1992; 89 Koike (10.1016/j.ajhg.2016.03.021_bib52) 2010; 48 Bech-Hansen (10.1016/j.ajhg.2016.03.021_bib17) 2000; 26 Gao (10.1016/j.ajhg.2016.03.021_bib66) 1998; 4 Morgans (10.1016/j.ajhg.2016.03.021_bib61) 2009; 106 Zeitz (10.1016/j.ajhg.2016.03.021_bib28) 2006; 79 van Genderen (10.1016/j.ajhg.2016.03.021_bib21) 2009; 85 Peachey (10.1016/j.ajhg.2016.03.021_bib24) 2012; 90 Dragas (10.1016/j.ajhg.2016.03.021_bib31) 2014; 129 Cheever (10.1016/j.ajhg.2016.03.021_bib41) 2008; 15 Morgans (10.1016/j.ajhg.2016.03.021_bib57) 2010; 32 Miyake (10.1016/j.ajhg.2016.03.021_bib16) 1986; 104 Ritchey (10.1016/j.ajhg.2016.03.021_bib44) 2010; 169 Riazuddin (10.1016/j.ajhg.2016.03.021_bib13) 2010; 87 Li (10.1016/j.ajhg.2016.03.021_bib20) 2009; 85 Zeitz (10.1016/j.ajhg.2016.03.021_bib25) 2013; 92 Marmor (10.1016/j.ajhg.2016.03.021_bib30) 2009; 118 Koike (10.1016/j.ajhg.2016.03.021_bib56) 2010; 107 20837674 - J Gen Physiol. 2010 Oct;136(4):443-54 11124982 - J Neurosci. 2000 Dec 15;20(24):9053-8 13180620 - Am J Ophthalmol. 1954 Jul;38(1:2):70-8 19439586 - J Neurosci. 2009 May 13;29(19):6088-93 3529395 - Science. 1986 Oct 3;234(4772):77-80 16600389 - Trends Pharmacol Sci. 2006 May;27(5):260-6 18214746 - Curr Eye Res. 2008 Jan;33(1):91-9 20981092 - Nature. 2010 Oct 28;467(7319):1061-73 20850105 - Am J Hum Genet. 2010 Oct 8;87(4):523-31 25307992 - Prog Retin Eye Res. 2015 Mar;45:58-110 22325361 - Am J Hum Genet. 2012 Feb 10;90(2):321-30 1447215 - J Biol Chem. 1992 Dec 5;267(34):24776-81 19896113 - Am J Hum Genet. 2009 Nov;85(5):720-9 11062472 - Nat Genet. 2000 Nov;26(3):324-7 8113014 - Invest Ophthalmol Vis Sci. 1994 Feb;35(2):635-45 8723724 - Genome Res. 1996 Apr;6(4):314-26 22325362 - Am J Hum Genet. 2012 Feb 10;90(2):331-9 3488053 - Arch Ophthalmol. 1986 Jul;104(7):1013-20 19861548 - Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19174-8 23246293 - Am J Hum Genet. 2013 Jan 10;92(1):67-75 15212839 - Neurobiol Aging. 2004 Aug;25(7):853-9 18204463 - Nat Struct Mol Biol. 2008 Feb;15(2):155-62 22895717 - J Neurosci. 2012 Aug 15;32(33):11343-55 1438293 - Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10882-6 15781871 - Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9 8358437 - Nat Genet. 1993 Jul;4(3):280-3 12454992 - J Comp Neurol. 2003 Jan 1;455(1):1-10 16960802 - Am J Hum Genet. 2006 Oct;79(4):657-67 23714322 - Ophthalmology. 2013 Oct;120(10):2072-81 8090199 - Nature. 1994 Sep 22;371(6495):297-300 9131251 - Annu Rev Pharmacol Toxicol. 1997;37:167-203 19878917 - Am J Hum Genet. 2009 Nov;85(5):711-9 8909296 - Biochemistry. 1996 Nov 5;35(44):13985-94 9662399 - Nat Genet. 1998 Jul;19(3):260-3 23980137 - Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4 25158357 - Nat Rev Neurosci. 2014 Aug;15(8):507-19 11062471 - Nat Genet. 2000 Nov;26(3):319-23 8627412 - J Opt Soc Am A Opt Image Sci Vis. 1996 Mar;13(3):557-65 26111660 - Eur J Cell Biol. 2015 Jul-Sep;94(7-9):420-7 9743540 - Mol Vis. 1998 Sep 17;4:16 12077185 - J Neurosci. 2002 Jun 15;22(12):4878-84 19030905 - Doc Ophthalmol. 2009 Feb;118(1):69-77 20846719 - Cell Calcium. 2010 Aug-Sep;48(2-3):95-101 23516284 - J Neurosci. 2013 Mar 20;33(12):5182-94 7951329 - Nat Genet. 1994 Aug;7(4):551 25950237 - Nat Protoc. 2015 Jun;10(6):845-58 22190596 - Invest Ophthalmol Vis Sci. 2012 Mar;53(3):1353-61 8038126 - Vis Neurosci. 1994 May-Jun;11(3):519-32 9425898 - Nat Genet. 1998 Jan;18(1):45-8 17065478 - Invest Ophthalmol Vis Sci. 2006 Nov;47(11):4714-8 7721746 - J Biol Chem. 1995 Apr 14;270(15):8495-500 25008578 - Doc Ophthalmol. 2014 Oct;129(2):97-104 8552196 - Nature. 1996 Jan 25;379(6563):369-74 9662400 - Nat Genet. 1998 Jul;19(3):264-7 20538044 - Neuroscience. 2010 Sep 1;169(3):1376-91 18660533 - Genetics. 2008 Aug;179(4):1861-70 10884039 - Neuroreport. 2000 Jun 26;11(9):1893-7 8627419 - J Opt Soc Am A Opt Image Sci Vis. 1996 Mar;13(3):623-33 8673138 - Nat Genet. 1996 Jul;13(3):358-60 19896109 - Am J Hum Genet. 2009 Nov;85(5):730-6 14957416 - Ophthalmologica. 1952 Jun;123(6):396-413 7889569 - Cell. 1995 Mar 10;80(5):757-65 19720650 - Philos Trans R Soc Lond B Biol Sci. 2009 Oct 12;364(1531):2867-80 22543367 - Bioinformatics. 2012 Jun 15;28(12):1647-9 17033974 - Am J Hum Genet. 2006 Nov;79(5):973-7 26822852 - Clin Genet. 2016 Jun;89(6):690-9 25502644 - Doc Ophthalmol. 2015 Feb;130(1):1-12 10477144 - J Am Soc Nephrol. 1999 Sep;10(9):1921-30 25293953 - J Med Genet. 2014 Dec;51(12):797-805 20544736 - Bioessays. 2010 Jul;32(7):609-14 19966281 - Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):332-7 |
| References_xml | – volume: 19 start-page: 264 year: 1998 end-page: 267 ident: bib27 article-title: Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness publication-title: Nat. Genet. – volume: 90 start-page: 321 year: 2012 end-page: 330 ident: bib23 article-title: Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. – volume: 47 start-page: 4714 year: 2006 end-page: 4718 ident: bib65 article-title: Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens publication-title: Invest. Ophthalmol. Vis. Sci. – volume: 35 start-page: 13985 year: 1996 end-page: 13994 ident: bib59 article-title: Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit publication-title: Biochemistry – volume: 11 start-page: 519 year: 1994 end-page: 532 ident: bib7 article-title: Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave publication-title: Vis. Neurosci. – volume: 85 start-page: 711 year: 2009 end-page: 719 ident: bib20 article-title: Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans publication-title: Am. J. Hum. Genet. – volume: 4 start-page: 16 year: 1998 ident: bib66 article-title: Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease publication-title: Mol. Vis. – volume: 11 start-page: 1893 year: 2000 end-page: 1897 ident: bib68 article-title: Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment publication-title: Neuroreport – volume: 467 start-page: 1061 year: 2010 end-page: 1073 ident: bib33 article-title: A map of human genome variation from population-scale sequencing publication-title: Nature – volume: 27 start-page: 260 year: 2006 end-page: 266 ident: bib71 article-title: Genetic diseases associated with heterotrimeric G proteins publication-title: Trends Pharmacol. Sci. – volume: 118 start-page: 69 year: 2009 end-page: 77 ident: bib30 article-title: ISCEV Standard for full-field clinical electroretinography (2008 update) publication-title: Doc. Ophthalmol. – volume: 123 start-page: 396 year: 1952 end-page: 413 ident: bib9 article-title: Analysis of the human electroretinogram publication-title: Ophthalmologica – volume: 371 start-page: 297 year: 1994 end-page: 300 ident: bib38 article-title: The ancient regulatory-protein family of WD-repeat proteins publication-title: Nature – volume: 37 start-page: 167 year: 1997 end-page: 203 ident: bib37 article-title: G protein beta gamma subunits publication-title: Annu. Rev. Pharmacol. Toxicol. – volume: 85 start-page: 730 year: 2009 end-page: 736 ident: bib21 article-title: Mutations in TRPM1 are a common cause of complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. – volume: 94 start-page: 420 year: 2015 end-page: 427 ident: bib50 article-title: Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells publication-title: Eur. J. Cell Biol. – volume: 10 start-page: 1921 year: 1999 end-page: 1930 ident: bib69 article-title: Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals publication-title: J. Am. Soc. Nephrol. – volume: 120 start-page: 2072 year: 2013 end-page: 2081 ident: bib43 article-title: Genotype and phenotype of 101 dutch patients with congenital stationary night blindness publication-title: Ophthalmology – volume: 25 start-page: 853 year: 2004 end-page: 859 ident: bib70 article-title: Polymorphism in genes involved in adrenergic signaling associated with Alzheimer’s publication-title: Neurobiol. Aging – volume: 13 start-page: 557 year: 1996 end-page: 565 ident: bib5 article-title: Inner retinal contributions to the primate photopic fast flicker electroretinogram publication-title: J. Opt. Soc. Am. A Opt. Image Sci. Vis. – volume: 379 start-page: 369 year: 1996 end-page: 374 ident: bib39 article-title: Crystal structure of a G-protein beta gamma dimer at 2.1A resolution publication-title: Nature – volume: 102 start-page: 4884 year: 2005 end-page: 4889 ident: bib19 article-title: Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 publication-title: Proc. Natl. Acad. Sci. USA – volume: 90 start-page: 331 year: 2012 end-page: 339 ident: bib24 article-title: GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. – volume: 364 start-page: 2867 year: 2009 end-page: 2880 ident: bib47 article-title: Evolution of vertebrate rod and cone phototransduction genes publication-title: Philos. Trans. R. Soc. Lond. B Biol. Sci. – volume: 38 start-page: 70 year: 1954 end-page: 78 ident: bib8 article-title: Electroretinography in cases of night blindness publication-title: Am. J. Ophthalmol. – volume: 48 start-page: 95 year: 2010 end-page: 101 ident: bib52 article-title: TRPM1: a vertebrate TRP channel responsible for retinal ON bipolar function publication-title: Cell Calcium – volume: 20 start-page: 9053 year: 2000 end-page: 9058 ident: bib53 article-title: The light response of ON bipolar neurons requires G[alpha]o publication-title: J. Neurosci. – volume: 32 start-page: 609 year: 2010 end-page: 614 ident: bib57 article-title: TRPM1: the endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells publication-title: BioEssays – year: 2016 ident: bib15 article-title: Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness (CSNB) publication-title: Clin. Genet. – volume: 87 start-page: 523 year: 2010 end-page: 531 ident: bib13 article-title: A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness publication-title: Am. J. Hum. Genet. – volume: 19 start-page: 260 year: 1998 end-page: 263 ident: bib26 article-title: An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness publication-title: Nat. Genet. – volume: 26 start-page: 324 year: 2000 end-page: 327 ident: bib18 article-title: The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein publication-title: Nat. Genet. – volume: 6 start-page: 314 year: 1996 end-page: 326 ident: bib36 article-title: A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13 publication-title: Genome Res. – volume: 85 start-page: 720 year: 2009 end-page: 729 ident: bib22 article-title: TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. – volume: 22 start-page: 4878 year: 2002 end-page: 4884 ident: bib54 article-title: Light response of retinal ON bipolar cells requires a specific splice variant of Galpha(o) publication-title: J. Neurosci. – volume: 104 start-page: 1013 year: 1986 end-page: 1020 ident: bib16 article-title: Congenital stationary night blindness with negative electroretinogram. A new classification publication-title: Arch. Ophthalmol. – volume: 129 start-page: 97 year: 2014 end-page: 104 ident: bib31 article-title: Changes in the ERG d-wave with vigabatrin treatment in a pediatric cohort publication-title: Doc. Ophthalmol. – volume: 29 start-page: 6088 year: 2009 end-page: 6093 ident: bib62 article-title: A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells publication-title: J. Neurosci. – volume: 455 start-page: 1 year: 2003 end-page: 10 ident: bib58 article-title: G protein subunit G gamma 13 is coexpressed with G alpha o, G beta 3, and G beta 4 in retinal ON bipolar cells publication-title: J. Comp. Neurol. – volume: 110 start-page: 14990 year: 2013 end-page: 14994 ident: bib72 article-title: Mouse model implicates GNB3 duplication in a childhood obesity syndrome publication-title: Proc. Natl. Acad. Sci. USA – start-page: 139 year: 2006 end-page: 185 ident: bib3 article-title: Origins of the Electroretinogram publication-title: Principles and Practice of Clinical Electrophysiology of Vision – volume: 15 start-page: 155 year: 2008 end-page: 162 ident: bib41 article-title: Crystal structure of the multifunctional Gbeta5-RGS9 complex publication-title: Nat. Struct. Mol. Biol. – volume: 33 start-page: 5182 year: 2013 end-page: 5194 ident: bib42 article-title: Cones respond to light in the absence of transducin β subunit publication-title: J. Neurosci. – volume: 89 start-page: 10882 year: 1992 end-page: 10886 ident: bib45 article-title: Retinal rods and cones have distinct G protein beta and gamma subunits publication-title: Proc. Natl. Acad. Sci. USA – volume: 79 start-page: 973 year: 2006 end-page: 977 ident: bib29 article-title: Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy publication-title: Am. J. Hum. Genet. – volume: 107 start-page: 332 year: 2010 end-page: 337 ident: bib56 article-title: TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade publication-title: Proc. Natl. Acad. Sci. USA – volume: 106 start-page: 19174 year: 2009 end-page: 19178 ident: bib61 article-title: TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells publication-title: Proc. Natl. Acad. Sci. USA – volume: 13 start-page: 623 year: 1996 end-page: 633 ident: bib6 article-title: Beta wave of the scotopic (rod) electroretinogram as a measure of the activity of human on-bipolar cells publication-title: J. Opt. Soc. Am. A Opt. Image Sci. Vis. – volume: 53 start-page: 1353 year: 2012 end-page: 1361 ident: bib14 article-title: GNAT1 associated with autosomal recessive congenital stationary night blindness publication-title: Invest. Ophthalmol. Vis. Sci. – volume: 270 start-page: 8495 year: 1995 end-page: 8500 ident: bib49 article-title: Molecular cloning and characterization of the G protein gamma subunit of cone photoreceptors publication-title: J. Biol. Chem. – volume: 32 start-page: 11343 year: 2012 end-page: 11355 ident: bib35 article-title: Gβ3 is required for normal light ON responses and synaptic maintenance publication-title: J. Neurosci. – volume: 179 start-page: 1861 year: 2008 end-page: 1870 ident: bib60 article-title: Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus) publication-title: Genetics – volume: 130 start-page: 1 year: 2015 end-page: 12 ident: bib2 article-title: ISCEV Standard for full-field clinical electroretinography (2015 update) publication-title: Doc. Ophthalmol. – volume: 234 start-page: 77 year: 1986 end-page: 80 ident: bib48 article-title: Identification of specific transducin alpha subunits in retinal rod and cone photoreceptors publication-title: Science – volume: 4 start-page: 280 year: 1993 end-page: 283 ident: bib10 article-title: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness publication-title: Nat. Genet. – volume: 80 start-page: 757 year: 1995 end-page: 765 ident: bib63 article-title: Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene publication-title: Cell – volume: 35 start-page: 635 year: 1994 end-page: 645 ident: bib4 article-title: A proximal retinal component in the primate photopic ERG a-wave publication-title: Invest. Ophthalmol. Vis. Sci. – volume: 51 start-page: 797 year: 2014 end-page: 805 ident: bib32 article-title: OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium publication-title: J. Med. Genet. – volume: 267 start-page: 24776 year: 1992 end-page: 24781 ident: bib46 article-title: A third form of the G protein beta subunit. 1. Immunochemical identification and localization to cone photoreceptors publication-title: J. Biol. Chem. – volume: 33 start-page: 91 year: 2008 end-page: 99 ident: bib64 article-title: Photopic electroretinograms of mGluR6-deficient mice publication-title: Curr. Eye Res. – volume: 92 start-page: 67 year: 2013 end-page: 75 ident: bib25 article-title: Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. – volume: 18 start-page: 45 year: 1998 end-page: 48 ident: bib67 article-title: Association of a human G-protein beta3 subunit variant with hypertension publication-title: Nat. Genet. – volume: 26 start-page: 319 year: 2000 end-page: 323 ident: bib17 article-title: Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness publication-title: Nat. Genet. – volume: 79 start-page: 657 year: 2006 end-page: 667 ident: bib28 article-title: Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness publication-title: Am. J. Hum. Genet. – volume: 169 start-page: 1376 year: 2010 end-page: 1391 ident: bib44 article-title: The pattern of expression of guanine nucleotide-binding protein beta3 in the retina is conserved across vertebrate species publication-title: Neuroscience – volume: 136 start-page: 443 year: 2010 end-page: 454 ident: bib55 article-title: Coordinated control of sensitivity by two splice variants of Gα(o) in retinal ON bipolar cells publication-title: J. Gen. Physiol. – volume: 7 start-page: 551 year: 1994 ident: bib11 article-title: Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness publication-title: Nat. Genet. – volume: 45 start-page: 58 year: 2015 end-page: 110 ident: bib1 article-title: Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms publication-title: Prog. Retin. Eye Res. – volume: 13 start-page: 358 year: 1996 end-page: 360 ident: bib12 article-title: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness publication-title: Nat. Genet. – volume: 28 start-page: 1647 year: 2012 end-page: 1649 ident: bib34 article-title: Geneious Basic: an integrated and extendable desktop software platform for the organization and analysis of sequence data publication-title: Bioinformatics – volume: 10 start-page: 845 year: 2015 end-page: 858 ident: bib40 article-title: The Phyre2 web portal for protein modeling, prediction and analysis publication-title: Nat. Protoc. – volume: 15 start-page: 507 year: 2014 end-page: 519 ident: bib51 article-title: Retinal bipolar cells: elementary building blocks of vision publication-title: Nat. Rev. Neurosci. – volume: 371 start-page: 297 year: 1994 ident: 10.1016/j.ajhg.2016.03.021_bib38 article-title: The ancient regulatory-protein family of WD-repeat proteins publication-title: Nature doi: 10.1038/371297a0 – volume: 234 start-page: 77 year: 1986 ident: 10.1016/j.ajhg.2016.03.021_bib48 article-title: Identification of specific transducin alpha subunits in retinal rod and cone photoreceptors publication-title: Science doi: 10.1126/science.3529395 – volume: 38 start-page: 70 year: 1954 ident: 10.1016/j.ajhg.2016.03.021_bib8 article-title: Electroretinography in cases of night blindness publication-title: Am. J. Ophthalmol. doi: 10.1016/0002-9394(54)90011-2 – volume: 22 start-page: 4878 year: 2002 ident: 10.1016/j.ajhg.2016.03.021_bib54 article-title: Light response of retinal ON bipolar cells requires a specific splice variant of Galpha(o) publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.22-12-04878.2002 – volume: 79 start-page: 973 year: 2006 ident: 10.1016/j.ajhg.2016.03.021_bib29 article-title: Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy publication-title: Am. J. Hum. Genet. doi: 10.1086/508944 – year: 2016 ident: 10.1016/j.ajhg.2016.03.021_bib15 article-title: Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness (CSNB) publication-title: Clin. Genet. doi: 10.1111/cge.12746 – volume: 94 start-page: 420 year: 2015 ident: 10.1016/j.ajhg.2016.03.021_bib50 article-title: Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells publication-title: Eur. J. Cell Biol. doi: 10.1016/j.ejcb.2015.06.005 – volume: 48 start-page: 95 year: 2010 ident: 10.1016/j.ajhg.2016.03.021_bib52 article-title: TRPM1: a vertebrate TRP channel responsible for retinal ON bipolar function publication-title: Cell Calcium doi: 10.1016/j.ceca.2010.08.004 – volume: 118 start-page: 69 year: 2009 ident: 10.1016/j.ajhg.2016.03.021_bib30 article-title: ISCEV Standard for full-field clinical electroretinography (2008 update) publication-title: Doc. Ophthalmol. doi: 10.1007/s10633-008-9155-4 – volume: 27 start-page: 260 year: 2006 ident: 10.1016/j.ajhg.2016.03.021_bib71 article-title: Genetic diseases associated with heterotrimeric G proteins publication-title: Trends Pharmacol. Sci. doi: 10.1016/j.tips.2006.03.005 – volume: 13 start-page: 557 year: 1996 ident: 10.1016/j.ajhg.2016.03.021_bib5 article-title: Inner retinal contributions to the primate photopic fast flicker electroretinogram publication-title: J. Opt. Soc. Am. A Opt. Image Sci. Vis. doi: 10.1364/JOSAA.13.000557 – volume: 92 start-page: 67 year: 2013 ident: 10.1016/j.ajhg.2016.03.021_bib25 article-title: Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2012.10.023 – volume: 11 start-page: 1893 year: 2000 ident: 10.1016/j.ajhg.2016.03.021_bib68 article-title: Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment publication-title: Neuroreport doi: 10.1097/00001756-200006260-00018 – volume: 37 start-page: 167 year: 1997 ident: 10.1016/j.ajhg.2016.03.021_bib37 article-title: G protein beta gamma subunits publication-title: Annu. Rev. Pharmacol. Toxicol. doi: 10.1146/annurev.pharmtox.37.1.167 – volume: 455 start-page: 1 year: 2003 ident: 10.1016/j.ajhg.2016.03.021_bib58 article-title: G protein subunit G gamma 13 is coexpressed with G alpha o, G beta 3, and G beta 4 in retinal ON bipolar cells publication-title: J. Comp. Neurol. doi: 10.1002/cne.10396 – volume: 47 start-page: 4714 year: 2006 ident: 10.1016/j.ajhg.2016.03.021_bib65 article-title: Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens publication-title: Invest. Ophthalmol. Vis. Sci. doi: 10.1167/iovs.06-0292 – volume: 379 start-page: 369 year: 1996 ident: 10.1016/j.ajhg.2016.03.021_bib39 article-title: Crystal structure of a G-protein beta gamma dimer at 2.1A resolution publication-title: Nature doi: 10.1038/379369a0 – volume: 179 start-page: 1861 year: 2008 ident: 10.1016/j.ajhg.2016.03.021_bib60 article-title: Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus) publication-title: Genetics doi: 10.1534/genetics.108.088807 – volume: 270 start-page: 8495 year: 1995 ident: 10.1016/j.ajhg.2016.03.021_bib49 article-title: Molecular cloning and characterization of the G protein gamma subunit of cone photoreceptors publication-title: J. Biol. Chem. doi: 10.1074/jbc.270.15.8495 – volume: 51 start-page: 797 year: 2014 ident: 10.1016/j.ajhg.2016.03.021_bib32 article-title: OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium publication-title: J. Med. Genet. doi: 10.1136/jmedgenet-2014-102620 – volume: 467 start-page: 1061 year: 2010 ident: 10.1016/j.ajhg.2016.03.021_bib33 article-title: A map of human genome variation from population-scale sequencing publication-title: Nature doi: 10.1038/nature09534 – volume: 15 start-page: 155 year: 2008 ident: 10.1016/j.ajhg.2016.03.021_bib41 article-title: Crystal structure of the multifunctional Gbeta5-RGS9 complex publication-title: Nat. Struct. Mol. Biol. doi: 10.1038/nsmb.1377 – volume: 267 start-page: 24776 year: 1992 ident: 10.1016/j.ajhg.2016.03.021_bib46 article-title: A third form of the G protein beta subunit. 1. Immunochemical identification and localization to cone photoreceptors publication-title: J. Biol. Chem. doi: 10.1016/S0021-9258(18)35831-9 – volume: 90 start-page: 321 year: 2012 ident: 10.1016/j.ajhg.2016.03.021_bib23 article-title: Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2011.12.007 – volume: 120 start-page: 2072 year: 2013 ident: 10.1016/j.ajhg.2016.03.021_bib43 article-title: Genotype and phenotype of 101 dutch patients with congenital stationary night blindness publication-title: Ophthalmology doi: 10.1016/j.ophtha.2013.03.002 – volume: 7 start-page: 551 year: 1994 ident: 10.1016/j.ajhg.2016.03.021_bib11 article-title: Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness publication-title: Nat. Genet. doi: 10.1038/ng0894-551c – volume: 130 start-page: 1 year: 2015 ident: 10.1016/j.ajhg.2016.03.021_bib2 article-title: ISCEV Standard for full-field clinical electroretinography (2015 update) publication-title: Doc. Ophthalmol. doi: 10.1007/s10633-014-9473-7 – volume: 33 start-page: 91 year: 2008 ident: 10.1016/j.ajhg.2016.03.021_bib64 article-title: Photopic electroretinograms of mGluR6-deficient mice publication-title: Curr. Eye Res. doi: 10.1080/02713680701823232 – volume: 18 start-page: 45 year: 1998 ident: 10.1016/j.ajhg.2016.03.021_bib67 article-title: Association of a human G-protein beta3 subunit variant with hypertension publication-title: Nat. Genet. doi: 10.1038/ng0198-45 – volume: 13 start-page: 358 year: 1996 ident: 10.1016/j.ajhg.2016.03.021_bib12 article-title: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness publication-title: Nat. Genet. doi: 10.1038/ng0796-358 – volume: 35 start-page: 13985 year: 1996 ident: 10.1016/j.ajhg.2016.03.021_bib59 article-title: Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit publication-title: Biochemistry doi: 10.1021/bi9612879 – volume: 11 start-page: 519 year: 1994 ident: 10.1016/j.ajhg.2016.03.021_bib7 article-title: Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave publication-title: Vis. Neurosci. doi: 10.1017/S0952523800002431 – volume: 10 start-page: 1921 year: 1999 ident: 10.1016/j.ajhg.2016.03.021_bib69 article-title: Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals publication-title: J. Am. Soc. Nephrol. doi: 10.1681/ASN.V1091921 – volume: 19 start-page: 260 year: 1998 ident: 10.1016/j.ajhg.2016.03.021_bib26 article-title: An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness publication-title: Nat. Genet. doi: 10.1038/940 – volume: 169 start-page: 1376 year: 2010 ident: 10.1016/j.ajhg.2016.03.021_bib44 article-title: The pattern of expression of guanine nucleotide-binding protein beta3 in the retina is conserved across vertebrate species publication-title: Neuroscience doi: 10.1016/j.neuroscience.2010.05.081 – volume: 29 start-page: 6088 year: 2009 ident: 10.1016/j.ajhg.2016.03.021_bib62 article-title: A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.0132-09.2009 – volume: 123 start-page: 396 year: 1952 ident: 10.1016/j.ajhg.2016.03.021_bib9 article-title: Analysis of the human electroretinogram publication-title: Ophthalmologica doi: 10.1159/000301211 – volume: 102 start-page: 4884 year: 2005 ident: 10.1016/j.ajhg.2016.03.021_bib19 article-title: Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.0501233102 – volume: 53 start-page: 1353 year: 2012 ident: 10.1016/j.ajhg.2016.03.021_bib14 article-title: GNAT1 associated with autosomal recessive congenital stationary night blindness publication-title: Invest. Ophthalmol. Vis. Sci. doi: 10.1167/iovs.11-8026 – volume: 32 start-page: 11343 year: 2012 ident: 10.1016/j.ajhg.2016.03.021_bib35 article-title: Gβ3 is required for normal light ON responses and synaptic maintenance publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.1436-12.2012 – volume: 33 start-page: 5182 year: 2013 ident: 10.1016/j.ajhg.2016.03.021_bib42 article-title: Cones respond to light in the absence of transducin β subunit publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.5204-12.2013 – volume: 90 start-page: 331 year: 2012 ident: 10.1016/j.ajhg.2016.03.021_bib24 article-title: GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2011.12.006 – volume: 364 start-page: 2867 year: 2009 ident: 10.1016/j.ajhg.2016.03.021_bib47 article-title: Evolution of vertebrate rod and cone phototransduction genes publication-title: Philos. Trans. R. Soc. Lond. B Biol. Sci. doi: 10.1098/rstb.2009.0077 – volume: 35 start-page: 635 year: 1994 ident: 10.1016/j.ajhg.2016.03.021_bib4 article-title: A proximal retinal component in the primate photopic ERG a-wave publication-title: Invest. Ophthalmol. Vis. Sci. – volume: 32 start-page: 609 year: 2010 ident: 10.1016/j.ajhg.2016.03.021_bib57 article-title: TRPM1: the endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells publication-title: BioEssays doi: 10.1002/bies.200900198 – volume: 26 start-page: 319 year: 2000 ident: 10.1016/j.ajhg.2016.03.021_bib17 article-title: Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness publication-title: Nat. Genet. doi: 10.1038/81619 – volume: 20 start-page: 9053 year: 2000 ident: 10.1016/j.ajhg.2016.03.021_bib53 article-title: The light response of ON bipolar neurons requires G[alpha]o publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.20-24-09053.2000 – volume: 80 start-page: 757 year: 1995 ident: 10.1016/j.ajhg.2016.03.021_bib63 article-title: Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene publication-title: Cell doi: 10.1016/0092-8674(95)90354-2 – volume: 45 start-page: 58 year: 2015 ident: 10.1016/j.ajhg.2016.03.021_bib1 article-title: Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms publication-title: Prog. Retin. Eye Res. doi: 10.1016/j.preteyeres.2014.09.001 – volume: 136 start-page: 443 year: 2010 ident: 10.1016/j.ajhg.2016.03.021_bib55 article-title: Coordinated control of sensitivity by two splice variants of Gα(o) in retinal ON bipolar cells publication-title: J. Gen. Physiol. doi: 10.1085/jgp.201010477 – volume: 19 start-page: 264 year: 1998 ident: 10.1016/j.ajhg.2016.03.021_bib27 article-title: Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness publication-title: Nat. Genet. doi: 10.1038/947 – volume: 85 start-page: 711 year: 2009 ident: 10.1016/j.ajhg.2016.03.021_bib20 article-title: Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.10.003 – volume: 79 start-page: 657 year: 2006 ident: 10.1016/j.ajhg.2016.03.021_bib28 article-title: Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness publication-title: Am. J. Hum. Genet. doi: 10.1086/508067 – volume: 6 start-page: 314 year: 1996 ident: 10.1016/j.ajhg.2016.03.021_bib36 article-title: A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13 publication-title: Genome Res. doi: 10.1101/gr.6.4.314 – volume: 4 start-page: 280 year: 1993 ident: 10.1016/j.ajhg.2016.03.021_bib10 article-title: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness publication-title: Nat. Genet. doi: 10.1038/ng0793-280 – volume: 110 start-page: 14990 year: 2013 ident: 10.1016/j.ajhg.2016.03.021_bib72 article-title: Mouse model implicates GNB3 duplication in a childhood obesity syndrome publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.1305999110 – volume: 89 start-page: 10882 year: 1992 ident: 10.1016/j.ajhg.2016.03.021_bib45 article-title: Retinal rods and cones have distinct G protein beta and gamma subunits publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.89.22.10882 – volume: 107 start-page: 332 year: 2010 ident: 10.1016/j.ajhg.2016.03.021_bib56 article-title: TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.0912730107 – volume: 106 start-page: 19174 year: 2009 ident: 10.1016/j.ajhg.2016.03.021_bib61 article-title: TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.0908711106 – volume: 28 start-page: 1647 year: 2012 ident: 10.1016/j.ajhg.2016.03.021_bib34 article-title: Geneious Basic: an integrated and extendable desktop software platform for the organization and analysis of sequence data publication-title: Bioinformatics doi: 10.1093/bioinformatics/bts199 – volume: 26 start-page: 324 year: 2000 ident: 10.1016/j.ajhg.2016.03.021_bib18 article-title: The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein publication-title: Nat. Genet. doi: 10.1038/81627 – volume: 87 start-page: 523 year: 2010 ident: 10.1016/j.ajhg.2016.03.021_bib13 article-title: A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2010.08.013 – start-page: 139 year: 2006 ident: 10.1016/j.ajhg.2016.03.021_bib3 article-title: Origins of the Electroretinogram – volume: 129 start-page: 97 year: 2014 ident: 10.1016/j.ajhg.2016.03.021_bib31 article-title: Changes in the ERG d-wave with vigabatrin treatment in a pediatric cohort publication-title: Doc. Ophthalmol. doi: 10.1007/s10633-014-9453-y – volume: 13 start-page: 623 year: 1996 ident: 10.1016/j.ajhg.2016.03.021_bib6 article-title: Beta wave of the scotopic (rod) electroretinogram as a measure of the activity of human on-bipolar cells publication-title: J. Opt. Soc. Am. A Opt. Image Sci. Vis. doi: 10.1364/JOSAA.13.000623 – volume: 104 start-page: 1013 year: 1986 ident: 10.1016/j.ajhg.2016.03.021_bib16 article-title: Congenital stationary night blindness with negative electroretinogram. A new classification publication-title: Arch. Ophthalmol. doi: 10.1001/archopht.1986.01050190071042 – volume: 10 start-page: 845 year: 2015 ident: 10.1016/j.ajhg.2016.03.021_bib40 article-title: The Phyre2 web portal for protein modeling, prediction and analysis publication-title: Nat. Protoc. doi: 10.1038/nprot.2015.053 – volume: 85 start-page: 730 year: 2009 ident: 10.1016/j.ajhg.2016.03.021_bib21 article-title: Mutations in TRPM1 are a common cause of complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.10.012 – volume: 15 start-page: 507 year: 2014 ident: 10.1016/j.ajhg.2016.03.021_bib51 article-title: Retinal bipolar cells: elementary building blocks of vision publication-title: Nat. Rev. Neurosci. doi: 10.1038/nrn3783 – volume: 25 start-page: 853 year: 2004 ident: 10.1016/j.ajhg.2016.03.021_bib70 article-title: Polymorphism in genes involved in adrenergic signaling associated with Alzheimer’s publication-title: Neurobiol. Aging doi: 10.1016/j.neurobiolaging.2003.10.006 – volume: 4 start-page: 16 year: 1998 ident: 10.1016/j.ajhg.2016.03.021_bib66 article-title: Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease publication-title: Mol. Vis. – volume: 85 start-page: 720 year: 2009 ident: 10.1016/j.ajhg.2016.03.021_bib22 article-title: TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.10.013 – reference: 8113014 - Invest Ophthalmol Vis Sci. 1994 Feb;35(2):635-45 – reference: 16960802 - Am J Hum Genet. 2006 Oct;79(4):657-67 – reference: 20538044 - Neuroscience. 2010 Sep 1;169(3):1376-91 – reference: 19966281 - Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):332-7 – reference: 19030905 - Doc Ophthalmol. 2009 Feb;118(1):69-77 – reference: 23246293 - Am J Hum Genet. 2013 Jan 10;92(1):67-75 – reference: 23516284 - J Neurosci. 2013 Mar 20;33(12):5182-94 – reference: 19861548 - Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19174-8 – reference: 22543367 - Bioinformatics. 2012 Jun 15;28(12):1647-9 – reference: 23980137 - Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4 – reference: 26111660 - Eur J Cell Biol. 2015 Jul-Sep;94(7-9):420-7 – reference: 25950237 - Nat Protoc. 2015 Jun;10(6):845-58 – reference: 11124982 - J Neurosci. 2000 Dec 15;20(24):9053-8 – reference: 15781871 - Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9 – reference: 25502644 - Doc Ophthalmol. 2015 Feb;130(1):1-12 – reference: 26822852 - Clin Genet. 2016 Jun;89(6):690-9 – reference: 15212839 - Neurobiol Aging. 2004 Aug;25(7):853-9 – reference: 9743540 - Mol Vis. 1998 Sep 17;4:16 – reference: 20850105 - Am J Hum Genet. 2010 Oct 8;87(4):523-31 – reference: 20837674 - J Gen Physiol. 2010 Oct;136(4):443-54 – reference: 8723724 - Genome Res. 1996 Apr;6(4):314-26 – reference: 1438293 - Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10882-6 – reference: 7889569 - Cell. 1995 Mar 10;80(5):757-65 – reference: 1447215 - J Biol Chem. 1992 Dec 5;267(34):24776-81 – reference: 8090199 - Nature. 1994 Sep 22;371(6495):297-300 – reference: 9662399 - Nat Genet. 1998 Jul;19(3):260-3 – reference: 19896109 - Am J Hum Genet. 2009 Nov;85(5):730-6 – reference: 19896113 - Am J Hum Genet. 2009 Nov;85(5):720-9 – reference: 25008578 - Doc Ophthalmol. 2014 Oct;129(2):97-104 – reference: 17065478 - Invest Ophthalmol Vis Sci. 2006 Nov;47(11):4714-8 – reference: 7951329 - Nat Genet. 1994 Aug;7(4):551 – reference: 10884039 - Neuroreport. 2000 Jun 26;11(9):1893-7 – reference: 8038126 - Vis Neurosci. 1994 May-Jun;11(3):519-32 – reference: 25307992 - Prog Retin Eye Res. 2015 Mar;45:58-110 – reference: 11062471 - Nat Genet. 2000 Nov;26(3):319-23 – reference: 3529395 - Science. 1986 Oct 3;234(4772):77-80 – reference: 9131251 - Annu Rev Pharmacol Toxicol. 1997;37:167-203 – reference: 19439586 - J Neurosci. 2009 May 13;29(19):6088-93 – reference: 7721746 - J Biol Chem. 1995 Apr 14;270(15):8495-500 – reference: 10477144 - J Am Soc Nephrol. 1999 Sep;10(9):1921-30 – reference: 19720650 - Philos Trans R Soc Lond B Biol Sci. 2009 Oct 12;364(1531):2867-80 – reference: 9425898 - Nat Genet. 1998 Jan;18(1):45-8 – reference: 18214746 - Curr Eye Res. 2008 Jan;33(1):91-9 – reference: 3488053 - Arch Ophthalmol. 1986 Jul;104(7):1013-20 – reference: 22325361 - Am J Hum Genet. 2012 Feb 10;90(2):321-30 – reference: 25293953 - J Med Genet. 2014 Dec;51(12):797-805 – reference: 18660533 - Genetics. 2008 Aug;179(4):1861-70 – reference: 22190596 - Invest Ophthalmol Vis Sci. 2012 Mar;53(3):1353-61 – reference: 25158357 - Nat Rev Neurosci. 2014 Aug;15(8):507-19 – reference: 18204463 - Nat Struct Mol Biol. 2008 Feb;15(2):155-62 – reference: 19878917 - Am J Hum Genet. 2009 Nov;85(5):711-9 – reference: 12077185 - J Neurosci. 2002 Jun 15;22(12):4878-84 – reference: 8627419 - J Opt Soc Am A Opt Image Sci Vis. 1996 Mar;13(3):623-33 – reference: 23714322 - Ophthalmology. 2013 Oct;120(10):2072-81 – reference: 8627412 - J Opt Soc Am A Opt Image Sci Vis. 1996 Mar;13(3):557-65 – reference: 8552196 - Nature. 1996 Jan 25;379(6563):369-74 – reference: 8673138 - Nat Genet. 1996 Jul;13(3):358-60 – reference: 13180620 - Am J Ophthalmol. 1954 Jul;38(1:2):70-8 – reference: 9662400 - Nat Genet. 1998 Jul;19(3):264-7 – reference: 8909296 - Biochemistry. 1996 Nov 5;35(44):13985-94 – reference: 12454992 - J Comp Neurol. 2003 Jan 1;455(1):1-10 – reference: 20544736 - Bioessays. 2010 Jul;32(7):609-14 – reference: 22895717 - J Neurosci. 2012 Aug 15;32(33):11343-55 – reference: 17033974 - Am J Hum Genet. 2006 Nov;79(5):973-7 – reference: 11062472 - Nat Genet. 2000 Nov;26(3):324-7 – reference: 20846719 - Cell Calcium. 2010 Aug-Sep;48(2-3):95-101 – reference: 16600389 - Trends Pharmacol Sci. 2006 May;27(5):260-6 – reference: 22325362 - Am J Hum Genet. 2012 Feb 10;90(2):331-9 – reference: 8358437 - Nat Genet. 1993 Jul;4(3):280-3 – reference: 14957416 - Ophthalmologica. 1952 Jun;123(6):396-413 – reference: 20981092 - Nature. 2010 Oct 28;467(7319):1061-73 |
| SSID | ssj0011803 |
| Score | 2.393393 |
| Snippet | Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram... |
| SourceID | unpaywall pubmedcentral hal proquest pubmed crossref elsevier |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 1011 |
| SubjectTerms | Alleles Amino Acid Sequence Animals Blindness Case-Control Studies congenital stationary Electroretinography exome Eye Diseases, Hereditary - etiology Eye Diseases, Hereditary - pathology Female G-protein beta 3 subunit Genes Genes, Recessive - genetics Genetic Diseases, X-Linked - etiology Genetic Diseases, X-Linked - pathology Genetic disorders Genetics Genotype Heterotrimeric GTP-Binding Proteins - chemistry Heterotrimeric GTP-Binding Proteins - genetics Homozygote Human genetics human GNB3 Humans Life Sciences light signal transduction Male Mice Middle Aged Mutation Mutation - genetics Myopia - etiology Myopia - pathology night blindness Night Blindness - etiology Night Blindness - pathology Pedigree Phenotype Protein Conformation Retina retinal dystrophies Sequence Homology, Amino Acid Visual Acuity - genetics |
| SummonAdditionalLinks | – databaseName: Unpaywall dbid: UNPAY link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1Zj9MwELZ2u0LsC_dRWJBBvEGWpLZzPLYVpUJQIaDS8mQ5jk27G5Jqmywqv56ZXKKqqJbHNpOjnvHM5_TzN4S8ioSJuGDKgeLEHK4D40R6oByoDXFkvcQLVcW2mPnTOf9wJs4OSNu4EFmV-Ma6ytHN2OFuXncAZRygPYqr--HbVWIPyZEvAH73yNF89nn4vYW5aFdrpAaOD1i92ShTc7rU-eIH0rn8Sth04P2rGB0ukBW5Czl3mZM3y2ylNr9Umv5Vlia3yZd2c0_NRrk4LYv4VP_e1Xq8_i--Q241IJUOa7u75MBk98iNum3l5j5JR0vswJIuNf1U1n_lr-kyo-9nI0bHqlwbqui8UoalE8DENLd0WBb5Ov-pUgeAKlJvrwwd57ixC7uW0K_1ZdTlhs7wdQEdAfxNMA0_IPPJu2_jqdN0bXA0rHYKB_AVLIKUDrUfh9wmxkJSgbzh2phZExmAbK4GXOh7MRcacjFAQiGsQVUZyyOPPSS9LM_MY0LBwRomccJiJrhWYaQTHlkWm9AmjCm3T7zWfVI3kubYWSOVLXftXKLLJbpcukyCy_vkdXfOqhb02Gst2qiQDSSpoYaEirP3vJcQQt0NUMN7Ovwo8Tvsggg4i12B0UkbYbLJHGuJimk84i4P-uRFdxjmPAaJykxeok2IbQ8CT-yxCWGxipUMRulRHbTd4wwCVFoTcIdgK5y3nnf7SLZcVNrjlUAjXvNNF_jXGMYn_2f-lBzjp4pXKk5Ir7gszTPAfkX8vJntfwBrzlI0 priority: 102 providerName: Unpaywall |
| Title | Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness |
| URI | https://dx.doi.org/10.1016/j.ajhg.2016.03.021 https://www.ncbi.nlm.nih.gov/pubmed/27063057 https://www.proquest.com/docview/1790494047 https://www.proquest.com/docview/1787478715 https://www.proquest.com/docview/1808691110 https://hal.science/hal-01872153 https://pubmed.ncbi.nlm.nih.gov/PMC4867910 http://www.cell.com/article/S0002929716300568/pdf |
| UnpaywallVersion | publishedVersion |
| Volume | 98 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVAFT databaseName: Open Access Digital Library customDbUrl: eissn: 1537-6605 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0011803 issn: 1537-6605 databaseCode: KQ8 dateStart: 20050101 isFulltext: true titleUrlDefault: http://grweb.coalliance.org/oadl/oadl.html providerName: Colorado Alliance of Research Libraries – providerCode: PRVESC databaseName: ScienceDirect Free and Delayed Access Journal customDbUrl: eissn: 1537-6605 dateEnd: 20250502 omitProxy: true ssIdentifier: ssj0011803 issn: 1537-6605 databaseCode: IXB dateStart: 19970101 isFulltext: true titleUrlDefault: https://www.sciencedirect.com providerName: Elsevier – providerCode: PRVBFR databaseName: Free Medical Journals customDbUrl: eissn: 1537-6605 dateEnd: 20250502 omitProxy: true ssIdentifier: ssj0011803 issn: 1537-6605 databaseCode: DIK dateStart: 19490101 isFulltext: true titleUrlDefault: http://www.freemedicaljournals.com providerName: Flying Publisher – providerCode: PRVFQY databaseName: GFMER Free Medical Journals customDbUrl: eissn: 1537-6605 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0011803 issn: 1537-6605 databaseCode: GX1 dateStart: 0 isFulltext: true titleUrlDefault: http://www.gfmer.ch/Medical_journals/Free_medical.php providerName: Geneva Foundation for Medical Education and Research – providerCode: PRVLSH databaseName: Elsevier Journals customDbUrl: mediaType: online eissn: 1537-6605 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0011803 issn: 1537-6605 databaseCode: AKRWK dateStart: 19970601 isFulltext: true providerName: Library Specific Holdings – providerCode: PRVAQN databaseName: PubMed Central customDbUrl: eissn: 1537-6605 dateEnd: 20250502 omitProxy: true ssIdentifier: ssj0011803 issn: 1537-6605 databaseCode: RPM dateStart: 19490101 isFulltext: true titleUrlDefault: https://www.ncbi.nlm.nih.gov/pmc/ providerName: National Library of Medicine |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lj9MwELaWRQguiDeFpTKIG0Sb1HYSH9uKUhBUSFCpnCzHsWlWIam2zaL-e2byEtWKCnFsMnl0ZjzzOR5_Q8hrKazkgmkPkhPzuImsJ81Ie5AbEumCNIh1XW2xCOdL_nElVidk2u2FwbLKNvY3Mb2O1u2R81ab55sswz2-_giSOwB-pFwPccMv4zG2b_iwmvQrCUHssw4Co3S7caap8dIX6x9Y3hXWRKej4G_J6cYaqySvQ9DrlZS3q2Kj9790nv-Rpmb3yN0WX9Jx8xfukxNbPCC3mo6T-4ckn2TYPCXPDP1cNavwW5oV9P1iwuhUV1tLNV3WpK50BnCWlo6Oq125LX_q3AOMiVWzV5ZOS9yThQ1H6NfmNvpyTxc406cTQK4pRtBHZDl7920699qGC56BicrOA2gE8xdtYhMmMXepdRAPYMj7LmHOSgtoyzcA6cIg4cJAGAU0J4SzSAjjuAzYY3JalIV9SmgopIHxl7KECW50LE3KpWOJjV3KmPYHJOg0rUzLRo5NMXLVlZ1dKLSOQusonymwzoC86a_ZNFwcR6VFZ0B14FEKksXR616BtfsHIP32fPxJ4TFsYAgQiV2B0FnnDKod9FuFZGdccp9HA_KyPw3DFddgdGHLCmVi7FgQBeKITAzzTExCoKUnjX_1rzOKkCRNwBOiA887eN_DM0W2rmnDa25FvOfb3kf_QY3P_lONz8kd_FXXhoozcrq7rOwLwG-7ZFgP0GH9YW1Ibi4XX8bffwO2REMu |
| linkProvider | Elsevier |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lj9MwELZ2F6HlgnhTWMAgbhBtUttpfGwrSoFuL2yl3izHsWlWIam2zaL-e2byEtWKCnGNJy_P67M8_oaQ91JYyQXTHiQn5nEzsJ40fe1BboilC5Ig0lW1xTycLvjXpVgekXF7FgbLKpvYX8f0Klo3V86b2Txfpyme8fX7kNwB8CPlehgdkztcADrBU3zLUbeVEEQ-azEwijcnZ-oiL321-oH1XWHFdNoP_padjldYJnkbg94upTwt87Xe_dJZ9keemjwg9xuASYf1PzwkRzZ_RO7WLSd3j0k2SrF7SpYaelHW2_Abmub083zE6FiXG0s1XVSsrnQCeJYWjg7LbbEpfurMA5CJZbM3lo4LPJSFHUfo9_ox-npH57jUpyOArgmG0CdkMfl0OZ56TccFz8BKZesBNoIFjDaRCeOIu8Q6CAjg876LmbPSAtzyDWC6MIi5MBBHAc4J4SwywjguA_aUnORFbp8TGgppwAETFjPBjY6kSbh0LLaRSxjTfo8E7Uwr09CRY1eMTLV1Z1cKtaNQO8pnCrTTIx-6e9Y1GcdBadEqUO2ZlIJscfC-d6Dt7gXIvz0dzhReww6GgJHYDQidtcagGq_fKGQ745L7fNAjb7th8FfchNG5LUqUibBlwSAQB2QiWGhiFoJZelbbV_c5_QGypAl4w2DP8va-d38kT1cVb3hFrojP_NjZ6D9M44v_nMY35HR6eTFTsy_zby_JPRypCkXFGTnZXpf2FYC5bfy6ctbfRtBDlA |
| linkToUnpaywall | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1Zj9MwELZ2u0LsC_dRWJBBvEGWpLZzPLYVpUJQIaDS8mQ5jk27G5Jqmywqv56ZXKKqqJbHNpOjnvHM5_TzN4S8ioSJuGDKgeLEHK4D40R6oByoDXFkvcQLVcW2mPnTOf9wJs4OSNu4EFmV-Ma6ytHN2OFuXncAZRygPYqr--HbVWIPyZEvAH73yNF89nn4vYW5aFdrpAaOD1i92ShTc7rU-eIH0rn8Sth04P2rGB0ukBW5Czl3mZM3y2ylNr9Umv5Vlia3yZd2c0_NRrk4LYv4VP_e1Xq8_i--Q241IJUOa7u75MBk98iNum3l5j5JR0vswJIuNf1U1n_lr-kyo-9nI0bHqlwbqui8UoalE8DENLd0WBb5Ov-pUgeAKlJvrwwd57ixC7uW0K_1ZdTlhs7wdQEdAfxNMA0_IPPJu2_jqdN0bXA0rHYKB_AVLIKUDrUfh9wmxkJSgbzh2phZExmAbK4GXOh7MRcacjFAQiGsQVUZyyOPPSS9LM_MY0LBwRomccJiJrhWYaQTHlkWm9AmjCm3T7zWfVI3kubYWSOVLXftXKLLJbpcukyCy_vkdXfOqhb02Gst2qiQDSSpoYaEirP3vJcQQt0NUMN7Ovwo8Tvsggg4i12B0UkbYbLJHGuJimk84i4P-uRFdxjmPAaJykxeok2IbQ8CT-yxCWGxipUMRulRHbTd4wwCVFoTcIdgK5y3nnf7SLZcVNrjlUAjXvNNF_jXGMYn_2f-lBzjp4pXKk5Ir7gszTPAfkX8vJntfwBrzlI0 |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Biallelic+Mutations+in+GNB3+Cause+a+Unique+Form+of+Autosomal-Recessive+Congenital+Stationary+Night+Blindness&rft.jtitle=American+journal+of+human+genetics&rft.au=Vincent%2C+Ajoy&rft.au=Audo%2C+Isabelle&rft.au=Tavares%2C+Erika&rft.au=Maynes%2C+Jason%C2%A0T.&rft.date=2016-05-05&rft.pub=Elsevier+Inc&rft.issn=0002-9297&rft.eissn=1537-6605&rft.volume=98&rft.issue=5&rft.spage=1011&rft.epage=1019&rft_id=info:doi/10.1016%2Fj.ajhg.2016.03.021&rft.externalDocID=S0002929716300568 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0002-9297&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0002-9297&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0002-9297&client=summon |