Diagnostic biomarker for ACTN1 macrothrombocytopenia
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| Published in | Blood Vol. 126; no. 22; pp. 2525 - 2526 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
26.11.2015
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0006-4971 1528-0020 1528-0020 |
| DOI | 10.1182/blood-2015-08-666180 |
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| Author | Kobayashi, Ryoji Yasutomi, Motoko Kitamura, Katsumasa Kunishima, Shinji |
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| Author_xml | – sequence: 1 givenname: Shinji surname: Kunishima fullname: Kunishima, Shinji email: kunishis@nnh.hosp.go.jp organization: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan – sequence: 2 givenname: Katsumasa surname: Kitamura fullname: Kitamura, Katsumasa organization: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan – sequence: 3 givenname: Motoko surname: Yasutomi fullname: Yasutomi, Motoko organization: Department of Pediatrics, University of Fukui, Fukui, Japan – sequence: 4 givenname: Ryoji surname: Kobayashi fullname: Kobayashi, Ryoji organization: Department of Pediatrics, Sapporo Hokuyu Hospital, Sapporo, Japan |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26472750$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.blre.2005.08.001 10.1006/jsbi.1998.4051 10.1111/bjh.13478 10.1016/j.ajhg.2013.01.015 10.1042/BJ20131511 10.1182/blood-2007-10-116194 10.1182/blood-2014-08-594531 10.1182/blood-2009-10-246751 10.1371/journal.pone.0074728 |
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| References | Bottega, Marconi, Faleschini (bib3) 2015; 125 Kunishima, Saito (bib1) 2006; 20 Kunishima, Okuno, Yoshida (bib5) 2013; 92 Tadokoro, Nakazawa, Kamae (bib7) 2011; 117 Guéguen, Rouault, Chen (bib4) 2013; 8 Foley, Young (bib6) 2014; 459 Kunishima, Hamaguchi, Saito (bib9) 2008; 111 Favier, Raslova (bib2) 2015; 170 Tanaka, Itoh (bib8) 1998; 124 Bottega (2019111902385376700_B3) 2015; 125 Favier (2019111902385376700_B2) 2015; 170 Kunishima (2019111902385376700_B9) 2008; 111 Tadokoro (2019111902385376700_B7) 2011; 117 Kunishima (2019111902385376700_B1) 2006; 20 Kunishima (2019111902385376700_B5) 2013; 92 Guéguen (2019111902385376700_B4) 2013; 8 Foley (2019111902385376700_B6) 2014; 459 Tanaka (2019111902385376700_B8) 1998; 124 |
| References_xml | – volume: 92 start-page: 431 year: 2013 end-page: 438 ident: bib5 article-title: ACTN1 mutations cause congenital macrothrombocytopenia publication-title: Am J Hum Genet – volume: 111 start-page: 3015 year: 2008 end-page: 3023 ident: bib9 article-title: Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders publication-title: Blood – volume: 459 start-page: 1 year: 2014 end-page: 13 ident: bib6 article-title: The non-muscle functions of actinins: an update publication-title: Biochem J – volume: 8 start-page: e74728 year: 2013 ident: bib4 article-title: A missense mutation in the α-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family publication-title: PLoS One – volume: 170 start-page: 626 year: 2015 end-page: 639 ident: bib2 article-title: Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias publication-title: Br J Haematol – volume: 117 start-page: 250 year: 2011 end-page: 258 ident: bib7 article-title: A potential role for α-actinin in inside-out αIIbβ3 signaling publication-title: Blood – volume: 124 start-page: 13 year: 1998 end-page: 41 ident: bib8 article-title: Reorganization of stress fiber-like structures in spreading platelets during surface activation publication-title: J Struct Biol – volume: 125 start-page: 869 year: 2015 end-page: 872 ident: bib3 article-title: ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization publication-title: Blood – volume: 20 start-page: 111 year: 2006 end-page: 121 ident: bib1 article-title: Congenital macrothrombocytopenias publication-title: Blood Rev – volume: 20 start-page: 111 issue: 2 year: 2006 ident: 2019111902385376700_B1 article-title: Congenital macrothrombocytopenias. publication-title: Blood Rev doi: 10.1016/j.blre.2005.08.001 – volume: 124 start-page: 13 issue: 1 year: 1998 ident: 2019111902385376700_B8 article-title: Reorganization of stress fiber-like structures in spreading platelets during surface activation. publication-title: J Struct Biol doi: 10.1006/jsbi.1998.4051 – volume: 170 start-page: 626 issue: 5 year: 2015 ident: 2019111902385376700_B2 article-title: Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias. publication-title: Br J Haematol doi: 10.1111/bjh.13478 – volume: 92 start-page: 431 issue: 3 year: 2013 ident: 2019111902385376700_B5 article-title: ACTN1 mutations cause congenital macrothrombocytopenia. publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.01.015 – volume: 459 start-page: 1 issue: 1 year: 2014 ident: 2019111902385376700_B6 article-title: The non-muscle functions of actinins: an update. publication-title: Biochem J doi: 10.1042/BJ20131511 – volume: 111 start-page: 3015 issue: 6 year: 2008 ident: 2019111902385376700_B9 article-title: Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. publication-title: Blood doi: 10.1182/blood-2007-10-116194 – volume: 125 start-page: 869 issue: 5 year: 2015 ident: 2019111902385376700_B3 article-title: ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. publication-title: Blood doi: 10.1182/blood-2014-08-594531 – volume: 117 start-page: 250 issue: 1 year: 2011 ident: 2019111902385376700_B7 article-title: A potential role for α-actinin in inside-out αIIbβ3 signaling. publication-title: Blood doi: 10.1182/blood-2009-10-246751 – volume: 8 start-page: e74728 issue: 9 year: 2013 ident: 2019111902385376700_B4 article-title: A missense mutation in the α-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. publication-title: PLoS One doi: 10.1371/journal.pone.0074728 |
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| SubjectTerms | Actinin - blood Actinin - genetics Biomarkers - blood Blood Platelets - metabolism Blood Platelets - pathology Female Genetic Diseases, Inborn - blood Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - pathology Humans Male Molecular Motor Proteins - blood Molecular Motor Proteins - genetics Mutation Myosin Heavy Chains - blood Myosin Heavy Chains - genetics Thrombocytopenia - blood Thrombocytopenia - genetics Thrombocytopenia - pathology |
| Title | Diagnostic biomarker for ACTN1 macrothrombocytopenia |
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