A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
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SEPTIN12 genetic variants confer susceptibility to teratozoospermiaAtrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanismsA new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South AsiaGenetic counselling for hypertrophic cardiomyopathy: are we ready for it?The ubiquitin-proteasome system and cardiovascular diseaseCompound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defectsHow do MYBPC3 mutations cause hypertrophic cardiomyopathy?The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathyAdrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in miceDefective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophyFounder mutations in hypertrophic cardiomyopathy patients in the NetherlandsRescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in miceMYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correctionIn the thick of it: HCM-causing mutations in myosin binding proteins of the thick filamentA cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Signaling and myosin-binding protein C.Cardiac myosin binding protein C insufficiency leads to early onset of mechanical dysfunction.Cardiac myosin binding protein-C: redefining its structure and function.Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.Appetite for destruction: E3 ubiquitin-ligase protection in cardiac disease.Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.In vivo definition of cardiac myosin-binding protein C's critical interactions with myosinThe development of familial hypertrophic cardiomyopathy: from mutation to bedside.How do mutations in contractile proteins cause the primary familial cardiomyopathies?Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.The genetic basis of hypertrophic cardiomyopathy in cats and humans.Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte FunctionProteasome dysfunction in cardiomyopathies.A One Health Approach to Hypertrophic Cardiomyopathy.Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.AT1 blockade abolishes left ventricular hypertrophy in heterozygous cMyBP-C null mice: role of FHL1.Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathyMicro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations
P2860
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P2860
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
description
2000 nî lūn-bûn
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2000 թուականի Մարտին հրատարակուած գիտական յօդուած
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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name
A newly created splice donor s ...... incomplete disease penetrance
@ast
A newly created splice donor s ...... incomplete disease penetrance
@en
A newly created splice donor s ...... incomplete disease penetrance
@nl
type
label
A newly created splice donor s ...... incomplete disease penetrance
@ast
A newly created splice donor s ...... incomplete disease penetrance
@en
A newly created splice donor s ...... incomplete disease penetrance
@nl
prefLabel
A newly created splice donor s ...... incomplete disease penetrance
@ast
A newly created splice donor s ...... incomplete disease penetrance
@en
A newly created splice donor s ...... incomplete disease penetrance
@nl
P2093
P1433
P1476
A newly created splice donor s ...... incomplete disease penetrance
@en
P2093
McKenna WJ
Moolman JA
Vosberg HP
P304
P356
10.1161/01.CIR.101.12.1396
P407
P577
2000-03-01T00:00:00Z