Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
about
Cardiomyopathy classification: ongoing debate in the genomics eraFamilial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylationA cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart.MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasisMolecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathyNovel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and proteinAn X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Myosin binding protein C: implications for signal-transductionStructure and function of palladin's actin binding domain.Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy PhenotypeClinical and Mechanistic Insights Into theĀ Genetics of CardiomyopathyHypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-CVertebrate isoforms of actin capping protein beta have distinct functions In vivoA new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophyMutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathyHow do MYBPC3 mutations cause hypertrophic cardiomyopathy?Targeting the sarcomere to correct muscle functionShared genetic causes of cardiac hypertrophy in children and adultsAltered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathyMolecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin CGenotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethoninFour and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assemblyMutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humansMYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correctionIn the thick of it: HCM-causing mutations in myosin binding proteins of the thick filamentDilated cardiomyopathy in homozygous myosin-binding protein-C mutant miceCardiac myosin-binding protein-C phosphorylation and cardiac functionC0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation.The alternative heart: impact of alternative splicing in heart disease.Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice.Identification of Nd1, a novel murine kelch family protein, involved in stabilization of actin filaments.Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death.Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic CardiomyopathyMyosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation.Trinucleotide insertions, deletions, and point mutations in glucose transporters confer K+ uptake in Saccharomyces cerevisiaeThe molecular genetic basis for hypertrophic cardiomyopathy.Hypertrophic cardiomyopathy: from genetics to treatmentMolecular genetics and pathogenesis of hypertrophic cardiomyopathy.
P2860
Q21284968-1AB4A489-F09E-4BF9-B7FC-F83EAA604B6AQ24290577-E6980165-3C53-4475-9752-B2F0FE502B1AQ24294587-A1DD8D27-08FE-4E24-877E-32CD58E96CCCQ24297454-0C3D306A-7730-4D2F-A563-152C9924F790Q24517948-4F98929B-12BB-4B49-93F4-D77C42F36AB9Q24517949-E4998384-5187-4EEB-A500-6BE103BD77FAQ24561566-1B4C2C86-C8B7-4CB9-BEEF-DBA0859814FCQ24642919-CF0BEC72-A9D8-47AE-B0C1-3742B5C27C57Q26865973-1EAF6E69-8412-414F-A0AE-2AC8851D3B67Q27678831-CCA2F18B-B150-4307-AB36-AAABCBB122C1Q28066435-C98A8899-7F0C-460C-9295-E6F99CEDC523Q28075470-6062AE7F-2B8C-4D65-AC6C-C4F60B894CDAQ28138779-63756053-47B5-4531-A0BA-0823066700DEQ28140605-7DD6FEA7-F244-490C-8C4C-01A3D480EED7Q28145972-68CEC346-3230-4C4A-AAC0-06C3A0B60AF1Q28244969-6F0227AE-0562-464E-BD6F-8A82F8C17758Q28252351-F1FB22E8-5B59-4546-8B85-BBC75C99D48FQ28260629-4003879C-5D52-4DF0-A247-A460A35B6289Q28276100-7BF4D615-8D50-4873-9D48-7679B925B185Q28283047-C3F0D05F-463A-4715-BA64-6D3E3654BC68Q28284750-AFA62A3B-2E67-468B-910C-D0570B5A0BFAQ28286640-421D7226-6FDC-4EF3-8C50-885E500E64E4Q28291221-ECE04D5E-7A5A-4E55-ADAE-A3AC90D7086CQ28302847-D97FB345-2F54-49FF-9589-80B1CB1C4623Q28304022-7BBFD277-CD88-417B-BD58-5E07CDBAF7F7Q28307598-E0AF515D-138D-4186-840E-C351696FD664Q28505121-3376CAB5-239C-406A-A44A-42F36F6F8A68Q28584863-D155AE07-D102-49EC-9AC4-90AD441A1992Q30357191-369C9D8E-8A9F-428C-B19E-B590B9A0D2F0Q30432053-FB424586-B058-49FC-913A-1B50B42E411FQ30500669-470EDBA5-A63E-46CE-8C73-DE94821E77E0Q31108300-651F4A9A-42B8-47EA-A0EA-69186EED2F6FQ33175046-EF0BEABB-AD12-4E76-B33F-037A6413FF42Q33569089-6C773BC1-3976-4FE3-B58B-D98CD3FDD57EQ33727470-0CB9E67B-491F-4197-8005-2409CB745508Q33740842-DB5A34F6-431E-4F07-BF03-801DE38C4579Q33771418-F6650244-A2A0-4492-B1E0-3B9F31D2A4A2Q33939892-3CC4650C-A22F-4F64-BB82-B1DBF1753FBBQ33992358-72BA8C62-9771-423C-B55B-C8C220E30DE9Q34021080-AA2D6705-3F7E-4EE3-8C1F-C119B24664F9
P2860
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
description
1995 nĆ® lÅ«n-bĆ»n
@nan
1995 Õ©ÕøÖÕ”ÕÆÕ”Õ¶Õ« Ō“Õ„ÕÆÕæÕ„Õ“Õ¢Õ„ÖÕ«Õ¶ Õ°ÖÕ”ÕæÕ”ÖÕ”ÕÆÕøÖÕ”Õ® Õ£Õ«ÕæÕ”ÕÆÕ”Õ¶ ÕµÖ
Õ¤ÕøÖÕ”Õ®
@hyw
1995 Õ©Õ¾Õ”ÕÆÕ”Õ¶Õ« Õ¤Õ„ÕÆÕæÕ„Õ“Õ¢Õ„ÖÕ«Õ¶ Õ°ÖÕ”ÕæÕ”ÖÕ”ÕÆÕ¾Õ”Õ® Õ£Õ«ÕæÕ”ÕÆÕ”Õ¶ Õ°ÕøÕ¤Õ¾Õ”Õ®
@hy
1995幓ć®č«ę
@ja
1995幓č«ę
@yue
1995幓č«ę
@zh-hant
1995幓č«ę
@zh-hk
1995幓č«ę
@zh-mo
1995幓č«ę
@zh-tw
1995幓č®ŗę
@wuu
name
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@ast
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@en
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@nl
type
label
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@ast
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@en
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@nl
prefLabel
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@ast
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@en
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in the cardiac myosi ...... al hypertrophic cardiomyopathy
@en
P2093
C E Seidman
J A Jarcho
J G Seidman
L Thierfelder
W J McKenna
P2860
P2888
P3181
P356
10.1038/NG1295-434
P407
P577
1995-12-01T00:00:00Z
P6179
1005216916