Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects - Wikidata - awgldk - TriplyDB

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

http://www.wikidata.org/entity/Q28288720

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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects Genetic testing in congenital heart disease: A clinical approach Genetics of congenital heart disease: the glass half empty Of mice and men: molecular genetics of congenital heart disease Getting to the heart of the matter: long non-coding RNAs in cardiac development and disease A rare variant in MYH6 is associated with high risk of sick sinus syndrome An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects Exome analysis of a family with pleiotropic congenital heart disease.Master redox regulator Trx1 upregulates SMYD1 & modulates lysine methylation.Novel GATA4 mutations in patients with congenital ventricular septal defects.Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.Genomics in cardiovascular disease.Probing human cardiovascular congenital disease using transgenic mouse models.Heavy and light roles: myosin in the morphogenesis of the heart.Family-based studies to identify genetic variants that cause congenital heart defects.Heart failure in congenital heart disease: the role of genes and hemodynamics.The sarcomeric M-region: a molecular command center for diverse cellular processes.Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.Impact of MYH6 variants in hypoplastic left heart syndrome.Advances in molecular genetics for pulmonary atresia.Congenital heart disease: the crossroads of genetics, epigenetics and environment.Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart Parental occupational exposures to endocrine disruptors and the risk of simple isolated congenital heart defects.Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics.Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval Nanocomposite scaffolds for myogenesis revisited: Functionalization with carbon nanomaterials and spectroscopic analysis

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Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

http://www.wikidata.org/entity/Q28288720

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

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2010年論文

@zh-hk

2010年論文

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2010年論文

@zh-tw

2010年论文

@wuu

name

Alpha-cardiac myosin heavy cha ...... with congenital heart defects

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Alpha-cardiac myosin heavy cha ...... with congenital heart defects

@en

Alpha-cardiac myosin heavy cha ...... with congenital heart defects

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type

label

Alpha-cardiac myosin heavy cha ...... with congenital heart defects

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Alpha-cardiac myosin heavy cha ...... with congenital heart defects

@en

Alpha-cardiac myosin heavy cha ...... with congenital heart defects

@nl

prefLabel

Alpha-cardiac myosin heavy cha ...... with congenital heart defects

@ast

Alpha-cardiac myosin heavy cha ...... with congenital heart defects

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Alpha-cardiac myosin heavy cha ...... with congenital heart defects

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Human Molecular Genetics

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Alpha-cardiac myosin heavy cha ...... with congenital heart defects

@en

P2093

Christopher Thornborough

http://www.w3.org/2001/XMLSchema#string

Diane Fatkin

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Frances Bu'Lock

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J David Brook

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Jacqueline Eason

http://www.w3.org/2001/XMLSchema#string

Mark Pope

http://www.w3.org/2001/XMLSchema#string

Michael P Feneley

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Tushar K Ghosh

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P2860

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

Mutation in myosin heavy chain 6 causes atrial septal defect

Alpha-cardiac actin mutations produce atrial septal defects

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

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

Early myocardial function affects endocardial cushion development in zebrafish

Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head

Crystallographic findings on the internally uncoupled and near-rigor states of myosin: further insights into the mechanics of the motor.

A structural state of the myosin V motor without bound nucleotide

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4007-4016

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scholarly article

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10.1093/HMG/DDQ315

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20

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19

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Javier T Granados-Riveron

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John A.L. Armour

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45287688

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20656787

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