A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
about
Identification of de novo mutations and rare variants in hypoplastic left heart syndromeA multiparameter network reveals extensive divergence between C. elegans bHLH transcription factorsIdentification of dysfunctional modules and disease genes in congenital heart disease by a network-based approach.Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome.Evolution of p53 transactivation specificity through the lens of a yeast-based functional assayDifferences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects.Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.The emerging genetic landscape underlying cardiac conduction system function.Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.A bHLH code for cardiac morphogenesis.From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases.Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defectsTranscription factor pathways and congenital heart disease.Anesthetic considerations in infants with hypoplastic left heart syndrome.Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells.An induced pluripotent stem cell model of hypoplastic left heart syndrome (HLHS) reveals multiple expression and functional differences in HLHS-derived cardiac myocytes.Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.Advances in molecular genetics for pulmonary atresia.Human transcription factors in yeast: the fruitful examples of P53 and NF-кB.Hand factor ablation causes defective left ventricular chamber development and compromised adult cardiac function.Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective.The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Chromosome 5q33 deletions associated with congenital heart defects.
P2860
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P2860
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
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
A loss-of-function mutation in ...... hypoplasia of the human hearts
@ast
A loss-of-function mutation in ...... hypoplasia of the human hearts
@en
A loss-of-function mutation in ...... hypoplasia of the human hearts
@en-gb
A loss-of-function mutation in ...... hypoplasia of the human hearts
@nl
type
label
A loss-of-function mutation in ...... hypoplasia of the human hearts
@ast
A loss-of-function mutation in ...... hypoplasia of the human hearts
@en
A loss-of-function mutation in ...... hypoplasia of the human hearts
@en-gb
A loss-of-function mutation in ...... hypoplasia of the human hearts
@nl
prefLabel
A loss-of-function mutation in ...... hypoplasia of the human hearts
@ast
A loss-of-function mutation in ...... hypoplasia of the human hearts
@en
A loss-of-function mutation in ...... hypoplasia of the human hearts
@en-gb
A loss-of-function mutation in ...... hypoplasia of the human hearts
@nl
P2093
P3181
P356
P1476
A loss-of-function mutation in ...... hypoplasia of the human hearts
@en
P2093
Alberto Inga
Juergen Borlak
Stella Marie Reamon-Buettner
Yari Ciribilli
P304
P3181
P356
10.1093/HMG/DDN027
P407
P577
2008-05-15T00:00:00Z