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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn, Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P., Wood, Nicholas W.
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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Journal Article
A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia
Tu, Chaofeng, Meng, Lanlan, Nie, Hongchuan, Yuan, Shimin, Wang, Weili, Du, Juan, Lu, Guangxiu, Lin, Ge, Tan, Yue-Qiu
Published in Fertility and sterility (01.03.2020)
Published in Fertility and sterility (01.03.2020)
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Journal Article
Missense mutation in ATXN2 gene (c.2860C > T) in an amyotrophic lateral sclerosis patient with aggressive disease phenotype
Ghezzi, Andrea, Martinelli, Ilaria, Carra, Serena, Mediani, Laura, Zucchi, Elisabetta, Simonini, Cecilia, Gianferrari, Giulia, Fini, Nicola, Cereda, Cristina, Gellera, Cinzia, Pensato, Viviana, Mandrioli, Jessica
Published in Neurological sciences (01.10.2022)
Published in Neurological sciences (01.10.2022)
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Journal Article
Association of Missense Mutation in FOLH1 With Decreased NAAG Levels and Impaired Working Memory Circuitry and Cognition
Zink, Caroline F., Barker, Peter B., Sawa, Akira, Weinberger, Daniel R., Wang, Min, Quillian, Henry, Ulrich, William S., Chen, Qiang, Jaffe, Andrew E., Kleinman, Joel E., Hyde, Thomas M., Prettyman, Greer E., Giegerich, Mellissa, Carta, Kayla, van Ginkel, Marcus, Bigos, Kristin L.
Published in The American journal of psychiatry (01.12.2020)
Published in The American journal of psychiatry (01.12.2020)
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Journal Article
Aggregate analysis based on TCGA: TTN missense mutation correlates with favorable prognosis in lung squamous cell carcinoma
Cheng, Xingyu, Yin, Han, Fu, Juan, Chen, Chunya, An, Jianhong, Guan, Jiexia, Duan, Rong, Li, Hengming, Shen, Hong
Published in Journal of cancer research and clinical oncology (01.04.2019)
Published in Journal of cancer research and clinical oncology (01.04.2019)
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Journal Article
A disease‐associated missense mutation in CYP4F3 affects the metabolism of leukotriene B4 via disruption of electron transfer
Smeets, Elien, Huang, Shengyun, Lee, Xiao Yin, Van Nieuwenhove, Erika, Helsen, Christine, Handle, Florian, Moris, Lisa, El Kharraz, Sarah, Eerlings, Roy, Devlies, Wout, Willemsen, Mathijs, Bücken, Leoni, Prezzemolo, Teresa, Humblet‐Baron, Stephanie, Voet, Arnout, Rochtus, Anne, Van Schepdael, Ann, Zegher, Francis, Claessens, Frank
Published in Journal of cachexia, sarcopenia and muscle (01.08.2022)
Published in Journal of cachexia, sarcopenia and muscle (01.08.2022)
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Journal Article
A Missense Mutation in A Consanguineous Family
Mustafa, Saima, Hussain, Malik Fiaz, Latif, Muhammad, Ijaz, Maryam, Asif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Iqbal, Furhan
Published in Genes (01.11.2022)
Published in Genes (01.11.2022)
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Journal Article
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up
Serra, Gregorio, Antona, Vincenzo, Giuffré, Mario, Li Pomi, Federica, Lo Scalzo, Lucia, Piro, Ettore, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Published in Italian journal of pediatrics (28.09.2021)
Published in Italian journal of pediatrics (28.09.2021)
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Journal Article
Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene
Merner, Nancy D., Hodgkinson, Kathy A., Haywood, Annika F.M., Connors, Sean, French, Vanessa M., Drenckhahn, Jörg-Detlef, Kupprion, Christine, Ramadanova, Kalina, Thierfelder, Ludwig, McKenna, William, Gallagher, Barry, Morris-Larkin, Lynn, Bassett, Anne S., Parfrey, Patrick S., Young, Terry-Lynn
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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Journal Article
Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 ( CABP4 ) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy
Chen, Zhi-Hong, Wang, Chun, Zhuo, Mu-Qing, Zhai, Qiong-Xiang, Chen, Qian, Guo, Yu-Xiong, Zhang, Yu-Xin, Gui, Juan, Tang, Zhi-Hong, Zeng, Xiao-Lu
Published in Oncotarget (03.10.2017)
Published in Oncotarget (03.10.2017)
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Journal Article
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
Hu, Ying, Chen, I-Ping, de Almeida, Salome, Tiziani, Valdenize, Do Amaral, Cassio M. Raposo, Gowrishankar, Kalpana, Passos-Bueno, Maria Rita, Reichenberger, Ernst J.
Published in PloS one (12.08.2013)
Published in PloS one (12.08.2013)
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Journal Article
D3 dopamine receptors and a missense mutation of fatty acid amide hydrolase linked in mouse and men: implication for addiction
Mansouri, Esmaeil, Nobrega, José N., Hill, Matthew N., Tyndale, Rachel F., Lee, Francis S., Hendershot, Christian S., Best, Laura M., Di Ciano, Patricia, Balsevich, Georgia, Sloan, Mathew E., Kish, Stephen J., Tong, Junchao, Le Foll, Bernard, Boileau, Isabelle
Published in Neuropsychopharmacology (New York, N.Y.) (01.04.2020)
Published in Neuropsychopharmacology (New York, N.Y.) (01.04.2020)
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Journal Article
Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation
Fan, Peng, Zhang, Di, Yang, Kun-Qi, Zhang, Qiong-Yu, Luo, Fang, Lou, Ying, Liu, Ya-Xin, Zhang, Hui-Min, Song, Lei, Cai, Jun, Wu, Hai-Ying, Zhou, Xian-Liang
Published in American journal of hypertension (22.02.2020)
Published in American journal of hypertension (22.02.2020)
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Journal Article
Neuropathology and biochemistry of early onset familial Alzheimer’s disease caused by presenilin-1 missense mutation Thr116Asn
Sutovsky, Stanislav, Smolek, Tomas, Turcani, Peter, Petrovic, Robert, Brandoburova, Petra, Jadhav, Santosh, Novak, Petr, Attems, Johannes, Zilka, Norbert
Published in Journal of Neural Transmission (01.06.2018)
Published in Journal of Neural Transmission (01.06.2018)
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Journal Article
A novel TBX1 missense mutation in patients with syndromic congenital heart defects
Jaouadi, Amel, Tabebi, Mouna, Abdelhedi, Fatma, Abid, Dorra, Kamoun, Fatma, Chabchoub, Imen, Maatoug, Sirine, Doukali, Hajer, Belghuith, Neila, Ksentini, Mohamed Ali, Keskes, Leila Ammar, Triki, Chahnez, Hachicha, Mongia, Kamoun, Samir, Kamoun, Hassen
Published in Biochemical and biophysical research communications (15.05.2018)
Published in Biochemical and biophysical research communications (15.05.2018)
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Journal Article
Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family
Pan, Shuyao, Long, Shushu, Cai, Liangchun, Wen, Junping, Lin, Wei, Chen, Gang
Published in Endocrine (01.03.2025)
Published in Endocrine (01.03.2025)
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Journal Article
A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family
Guéguen, Paul, Rouault, Karen, Chen, Jian-Min, Raguénès, Odile, Fichou, Yann, Hardy, Elisabeth, Gobin, Eric, Pan-petesch, Brigitte, Kerbiriou, Mathieu, Trouvé, Pascal, Marcorelles, Pascale, Abgrall, Jean-francois, Le Maréchal, Cédric, Férec, Claude
Published in PloS one (17.09.2013)
Published in PloS one (17.09.2013)
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Journal Article
Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari‐Turkish patients
Rostamizadeh, Leila, Vahedi, Leila, Bahavarnia, Seied Rafi, Alipour, Shahriar, Abolhasani, Somayeh, Khabazi, Alireza, Sakhinia, Ebrahim
Published in Annals of human genetics (01.01.2020)
Published in Annals of human genetics (01.01.2020)
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Journal Article
Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in Prohormone Convertase 1/3
Farooqi, I. Sadaf, Volders, Karolien, Stanhope, Richard, Heuschkel, Robert, White, Anne, Lank, Emma, Keogh, Julia, O’Rahilly, Stephen, Creemers, John W. M.
Published in The journal of clinical endocrinology and metabolism (01.09.2007)
Published in The journal of clinical endocrinology and metabolism (01.09.2007)
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Journal Article
A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family
Mustafa, Saima, Hussain, Malik Fiaz, Latif, Muhammad, Ijaz, Maryam, Asif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Iqbal, Furhan
Published in Genes (11.11.2022)
Published in Genes (11.11.2022)
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Journal Article