Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q28243560

about

Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy A novel custom resequencing array for dilated cardiomyopathy Genetics and disease of ventricular muscle.Rare variant mutations identified in pediatric patients with dilated cardiomyopathy Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Common susceptibility variants examined for association with dilated cardiomyopathy.Human K(ATP) channelopathies: diseases of metabolic homeostasis.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments MLP (muscle LIM protein) as a stress sensor in the heart.Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.Drosophila melanogaster muscle LIM protein and alpha-actinin function together to stabilize muscle cytoarchitecture: a potential role for Mlp84B in actin-crosslinking.Identification of rare genetic variants in novel loci associated with Paget's disease of bone.Myo1c mutations associated with hearing loss cause defects in the interaction with nucleotide and actin.SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.Cardiac titin and heart disease.Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathy Characterization of a novel chicken muscle disorder through differential gene expression and pathway analysis using RNA-sequencing.Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy Impact of Mendelian inheritance in cardiovascular disease.Titin is a major human disease gene.Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.Role of Titin Missense Variants in Dilated Cardiomyopathy.Genetic testing for dilated cardiomyopathy in clinical practice.Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

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P2860

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

http://www.wikidata.org/entity/Q28243560

description

2008 nî lūn-bûn

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2008 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2008 թվականի մայիսին հրատարակված գիտական հոդված

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Coding sequence mutations iden ...... opathic dilated cardiomyopathy

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Coding sequence mutations iden ...... opathic dilated cardiomyopathy

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Coding sequence mutations iden ...... opathic dilated cardiomyopathy

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type

label

Coding sequence mutations iden ...... opathic dilated cardiomyopathy

@ast

Coding sequence mutations iden ...... opathic dilated cardiomyopathy

@en

Coding sequence mutations iden ...... opathic dilated cardiomyopathy

@nl

prefLabel

Coding sequence mutations iden ...... opathic dilated cardiomyopathy

@ast

Coding sequence mutations iden ...... opathic dilated cardiomyopathy

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Coding sequence mutations iden ...... opathic dilated cardiomyopathy

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J.1752-8062.2008.00017.X

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Clinical and Translational Science

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Coding sequence mutations iden ...... opathic dilated cardiomyopathy

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Deirdre Nauman

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Donna Burgess

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Duanxiang Li

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Jessica D Kushner

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Julie Partain

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Michael Litt

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Ray E Hershberger

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Sharie B Parks

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Susan Ludwigsen

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P2860

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

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

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

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

A simple salting out procedure for extracting DNA from human nucleated cells

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

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