Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models

scientific article

Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1152/AJPHEART.00637.2013
P698PubMed publication ID25281569

P2093author name stringKenshi Hayashi
Takashi Fujita
Masakazu Yamagishi
Tetsuo Konno
Masa-Aki Kawashiri
Akihiko Hodatsu
Akira Funada
Noboru Fujino
Yoji Nagata
P2860cites workA cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heartQ24294587
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South AsiaQ24645034
A method and server for predicting damaging missense mutationsQ27860835
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patientsQ28182167
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategyQ28198707
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathyQ28236892
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunctionQ28237729
Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypesQ28248327
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiencyQ28250719
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathyQ28253215
Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among JapaneseQ28279418
Genetic dissection of neural circuits by Tol2 transposon-mediated Gal4 gene and enhancer trapping in zebrafishQ30481232
Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) AdultsQ34058337
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathyQ34062582
Hypertrophic cardiomyopathy: a systematic reviewQ34117625
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathyQ34120159
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder eventsQ34145917
Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathyQ34474908
Inactivation of Myosin binding protein C homolog in zebrafish as a model for human cardiac hypertrophy and diastolic dysfunctionQ37328713
A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutationsQ38106918
Current perspectives in genetic cardiovascular disorders: from basic to clinical aspectsQ38125941
The rapid detection of unknown mutations in nucleic acids.Q40786087
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathyQ41511752
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.Q41930866
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counsellingQ43073464
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathyQ47879338
Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutationsQ48031222
Antihypertensive therapy in hypertrophic cardiomyopathy.Q51836542
A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death.Q54641381
Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis.Q54706020
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the AmeriQ55055185
Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene MutationsQ57841015
Homozygotes for a R869G Mutation in the β -myosin Heavy Chain Gene have a Severe Form of Familial Hypertrophic CardiomyopathyQ57907353
P433issue11
P921main subjectDanio rerioQ169444
hypertrophic cardiomyopathyQ1364270
heterozygosityQ124059385
P304page(s)H1594-604
P577publication date2014-10-03
P1433published inAmerican Journal of Physiology Heart and Circulatory PhysiologyQ3193662
P1476titleCompound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models
P478volume307

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cites work (P2860)
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Q42515078Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
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Q98283589Personalized medicine for cardiovascular diseases
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