Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy
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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden deathDominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical coresHomozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathyThe nucleotide exchange factors of Hsp70 molecular chaperonesGenetics of Human and Canine Dilated CardiomyopathyThe role of large pedigrees in an era of high-throughput sequencingExploring predisposition and treatment response--the promise of genomicsDisease gene identification strategies for exome sequencingKeep your heart in shape: molecular chaperone networks for treating heart diseaseGenome-wide association studies of late-onset cardiovascular diseaseBAG3: a new player in the heart failure paradigmIdentification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathyThe genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLNCardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 SignalingIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressRare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular HypertrophyPrioritizing causal disease genes using unbiased genomic featuresA BAG3 Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy.Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation.Exome sequencing in suspected monogenic dyslipidemias.Evidence for involvement of GNB1L in autism.Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeNovel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac DeathNext-generation sequencing: from understanding biology to personalized medicine.Advanced glycation end products promote the proliferation and migration of primary rat vascular smooth muscle cells via the upregulation of BAG3.Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics.The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.Flexible and robust methods for rare-variant testing of quantitative traits in trios and nuclear families.Genetics of human cardiovascular diseaseNew mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.The promise of whole-exome sequencing in medical genetics.A survey of tools for variant analysis of next-generation genome sequencing data.Comparison of similarity-based tests and pooling strategies for rare variantsGENETIC CAUSES OF DILATED CARDIOMYOPATHY.Combined genotype and haplotype tests for region-based association studies.Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathyWhole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.Whole-exome sequencing to identify a novel LMNA gene mutation associated with inherited cardiac conduction diseaseGenetic advances in sarcomeric cardiomyopathies: state of the art.
P2860
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P2860
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@ast
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@en
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@nl
type
label
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@ast
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@en
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@nl
prefLabel
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@ast
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@en
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@nl
P2093
P2860
P3181
P1476
Genome-wide studies of copy nu ...... ause of dilated cardiomyopathy
@en
P2093
Deborah A Nickerson
Duanxiang Li
Eden Martin
Evadnie Rampersaud
Jill D Siegfried
Jochen Reiser
Jorge Gonzalez-Quintana
Libin Wang
Mark J Rieder
Nadine Norton
P2860
P304
P3181
P356
10.1016/J.AJHG.2011.01.016
P407
P577
2011-03-11T00:00:00Z