Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy
about
Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiationGenome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyA novel custom resequencing array for dilated cardiomyopathyGenetics and disease of ventricular muscle.Rare variant mutations identified in pediatric patients with dilated cardiomyopathyClinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathyCoding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathyThe genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLNProteomic analysis reveals new cardiac-specific dystrophin-associated proteinsGenotype-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 filamentsMLP (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 professionalsFunctional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathyCharacterization 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 cardiomyopathyImpact 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 cardiomyopathyTemporal 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.
P2860
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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
description
2008 nî lūn-bûn
@nan
2008 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Coding sequence mutations iden ...... opathic dilated cardiomyopathy
@ast
Coding sequence mutations iden ...... opathic dilated cardiomyopathy
@en
Coding sequence mutations iden ...... opathic dilated cardiomyopathy
@nl
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
@en
Coding sequence mutations iden ...... opathic dilated cardiomyopathy
@nl
P2093
P2860
P3181
P1476
Coding sequence mutations iden ...... opathic dilated cardiomyopathy
@en
P2093
Deirdre Nauman
Donna Burgess
Duanxiang Li
Jessica D Kushner
Julie Partain
Michael Litt
Petra Jakobs
Ray E Hershberger
Sharie B Parks
Susan Ludwigsen
P2860
P3181
P356
10.1111/J.1752-8062.2008.00017.X
P407
P577
2008-05-01T00:00:00Z