Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis

scientific article published on October 2003

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/HEART.89.10.1179
P932PMC publication ID1767874
P698PubMed publication ID12975413
P5875ResearchGate publication ID10567172

P2093author name stringParker TG
Zeller M
Liew CC
Rakowski H
Sole MJ
Liew JC
Wigle ED
Woo A
Zhao MS
P2860cites workMapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1Q69792543
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Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathyQ73288500
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutationsQ73566746
Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutationsQ74353552
Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and marfan syndrome : A statement for healthcare professionals from theQ77369184
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderlyQ24292234
Characterization of human cardiac myosin heavy chain genesQ24615031
Three-dimensional structure of myosin subfragment-1: a molecular motorQ27731679
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathyQ28141697
The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigmsQ28203734
Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathyQ28216997
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathyQ28236892
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathyQ28268916
The Genetic Basis for CardiomyopathyQ29300961
Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathyQ30884033
Sudden death in hypertrophic cardiomyopathy: identification of high risk patients.Q33145986
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 mutationQ33153444
Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutationsQ33174333
Age and body surface area related normal upper and lower limits of M mode echocardiographic measurements and left ventricular volume and mass from infancy to early adulthoodQ33614115
Properties of mutant contractile proteins that cause hypertrophic cardiomyopathyQ33806181
The molecular genetic basis for hypertrophic cardiomyopathyQ33939892
Tissue Doppler imaging consistently detects myocardial contraction and relaxation abnormalities, irrespective of cardiac hypertrophy, in a transgenic rabbit model of human hypertrophic cardiomyopathyQ34008230
Hypertrophic cardiomyopathy: a systematic reviewQ34117625
The molecular genetics of hypertrophic cardiomyopathy: prognostic implicationsQ34166230
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathyQ34386835
New concepts in hypertrophic cardiomyopathies, part I.Q34416641
Cardiomyopathy: The diagnosis of hypertrophic cardiomyopathyQ34441506
Complete sequence and organization of the human cardiac beta-myosin heavy chain geneQ35846655
Echocardiographic and Doppler assessment of hypertrophic cardiomyopathyQ39490561
Hypertrophic cardiomyopathy. The importance of the site and the extent of hypertrophy. A reviewQ39614414
Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected familiesQ41342233
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathyQ44319774
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspectiveQ47886356
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population.Q50944752
The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.Q52906642
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.Q52962652
Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathyQ57907368
Efficacy of Implantable Cardioverter–Defibrillators for the Prevention of Sudden Death in Patients with Hypertrophic CardiomyopathyQ58819293
A point-score system for the ECG diagnosis of left ventricular hypertrophyQ68411478
P433issue10
P407language of work or nameEnglishQ1860
P921main subjecthypertrophic cardiomyopathyQ1364270
P304page(s)1179-1185
P577publication date2003-10-01
P1433published inHeartQ856338
P1476titleMutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis
P478volume89

Reverse relations

cites work (P2860)
Q91359304A novel MYBPC3 c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy
Q46128365A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Q37191627Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations
Q41936884Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity
Q27712437Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution
Q43014048From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy
Q38125765Genetic biomarkers in hypertrophic cardiomyopathy.
Q36712985Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
Q34999606Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy
Q41993268Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein
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Q34359106Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch
Q30388756Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation
Q34474908Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy
Q33312381Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene
Q35792948Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
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Q35436364Survival and clinical behavior of hypertrophic cardiomyopathy in a latin american cohort in contrast to cohorts from the developed world
Q37130043Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics
Q58565497The genetics of hypertrophic cardiomyopathy
Q36056126The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.
Q46888862Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy
Q81000083Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy
Q47877602Yield of genetic testing in hypertrophic cardiomyopathy
Q33864019β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations

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