Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11 - Wikidata - awgldk - TriplyDB

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

http://www.wikidata.org/entity/Q28261884

about

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3 Mapping a gene for Noonan syndrome to the long arm of chromosome 12 MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction Genetic investigation and counselling of families with hypertrophic cardiomyopathy The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene Familial dilated cardiomyopathy.Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.Genetics of human cardiovascular disease Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy Signaling and myosin-binding protein C.Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history Molecular diagnosis of myocardial disease.Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.Transcription of Drosophila troponin I gene is regulated by two conserved, functionally identical, synergistic elements Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.Myofilaments: Movers and Rulers of the Sarcomere.The devil's in the details: progress in familial hypertrophic cardiomyopathy.The genetic basis of paediatric heart disease.Molecular and clinical aspects of inherited cardiomyopathies.Molecular basis of hypertrophic and dilated cardiomyopathy Multiple disease genes cause hypertrophic cardiomyopathy.Doppler echocardiography in familial hypertrophic cardiomyopathy: the French Cooperative Study.Molecular genetic basis of hypertrophic cardiomyopathy: genetic markers for sudden cardiac death.The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy Skeletal myosin binding protein-C isoforms regulate thin filament activity in a Ca2+-dependent manner.Human leukocyte antigens in hypertrophic cardiomyopathy patients in South India.Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.

P2860

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P2860

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

http://www.wikidata.org/entity/Q28261884

description

1993 nî lūn-bûn

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1993 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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1993 թվականի հուլիսին հրատարակված գիտական հոդված

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1993年の論文

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1993年学术文章

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1993年学术文章

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1993年学术文章

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1993年学术文章

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1993年学术文章

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1993年學術文章

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name

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@ast

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@en

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@nl

type

label

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@ast

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@en

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@nl

prefLabel

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@ast

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@en

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@nl

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P1433

Nature Genetics

P1476

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

@en

P2093

Bercovici J

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Berebbi-Bertrand I

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Carrier L

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Dausse E

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Dufour C

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Hengstenberg C

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Pulvenis D

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Wisnewsky C

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P2860

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

A molecular basis for familial hypertrophic cardiomyopathy: An αβ cardiac myosin heavy chain hybrid gene

Prognostic determinants in hypertrophic cardiomyopathy. Prospective evaluation of a therapeutic strategy based on clinical, Holter, hemodynamic, and electrophysiological findings.

Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

A second-generation linkage map of the human genome.

Ultrastructural features of hypertrophied human ventricular myocardium.

Regular physical exercise and low-fat diet. Effects on progression of coronary artery disease.

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population.

Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography.

P2888

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311-313

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scholarly article

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10.1038/NG0793-311

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3

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4

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Pascale Guicheney

Jacques S. Beckmann

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1993-07-01T00:00:00Z

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14841743

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8358441

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