Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy - Test2 - elhamkhani - TriplyDB

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

http://www.wikidata.org/entity/Q28275501

about

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy Genetics of Human and Canine Dilated Cardiomyopathy Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models Rare variant mutations identified in pediatric patients with dilated cardiomyopathy Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM)Linking Genes to Cardiovascular Diseases: Gene Action and Gene-Environment Interactions.Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Multiple genetic variant association testing by collapsing and kernel methods with pedigree or population structured data Adaptive combination of P-values for family-based association testing with sequence data Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest Comprehensive approach to analyzing rare genetic variants Genotype-specific pathogenic effects in human dilated cardiomyopathy.Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.Identification of rare genetic variants in novel loci associated with Paget's disease of bone.SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.Signaling and myosin-binding protein C.Association of brain-type natriuretic protein and cardiac troponin I with incipient cardiovascular disease in chimpanzees (Pan troglodytes)Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Common variant rs7597774 in ADD2 is associated with dilated cardiomyopathy in Chinese Han population Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathy Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.Cardiomyopathy-Related Mutations in Cardiac Troponin C, L29Q and G159D, Have Divergent Effects on Rat Cardiac Myofiber Contractile Dynamics.Dissociation of structural and functional phenotypes in cardiac myosin-binding protein C conditional knockout mice.Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.Rescue of neonatal cardiac dysfunction in mice by administration of cardiac progenitor cells in utero.Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy Testing genetic association with rare variants in admixed populations.

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P2860

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

http://www.wikidata.org/entity/Q28275501

description

2010 nî lūn-bûn

@nan

2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@ast

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@en

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@nl

type

label

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@ast

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@en

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@nl

prefLabel

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@ast

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@en

Coding sequence rare variants ...... opathic dilated cardiomyopathy

@nl

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CIRCGENETICS.109.912345

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Circulation: Cardiovascular Genetics

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Coding sequence rare variants ...... opathic dilated cardiomyopathy

@en

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Ana Morales

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Duanxiang Li

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Jill D Siegfried

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Jorge Gonzalez-Quintana

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Nadine Norton

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Ray E Hershberger

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P2860

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy

Shared genetic causes of cardiac hypertrophy in children and adults

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

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