A functional genetic study identifies HAND1 mutations in septation defects of the human heart
about
Identification of de novo mutations and rare variants in hypoplastic left heart syndromePhosphorylation of the Twist1-family basic helix-loop-helix transcription factors is involved in pathological cardiac remodelingp53 transactivation and the impact of mutations, cofactors and small molecules using a simplified yeast-based screening systemThe molecular genetics of congenital heart disease: a review of recent developments.Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot.Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.Transcriptomics of maternal and fetal membranes can discriminate between gestational-age matched preterm neonates with and without cognitive impairment diagnosed at 18-24 months.Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects.Gene replacement strategies to test the functional redundancy of basic helix-loop-helix transcription factor.A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.The emerging genetic landscape underlying cardiac conduction system function.From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases.Transcription factor pathways and congenital heart disease.The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.Editor's Highlight: Development of Novel Neural Embryonic Stem CellTests for High-Throughput Screening of Embryotoxic Chemicals.HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Chromosome 5q33 deletions associated with congenital heart defects.
P2860
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P2860
A functional genetic study identifies HAND1 mutations in septation defects of the human heart
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A functional genetic study ide ...... ion defects of the human heart
@ast
A functional genetic study ide ...... ion defects of the human heart
@en
A functional genetic study ide ...... ion defects of the human heart
@en-gb
A functional genetic study ide ...... ion defects of the human heart
@nl
type
label
A functional genetic study ide ...... ion defects of the human heart
@ast
A functional genetic study ide ...... ion defects of the human heart
@en
A functional genetic study ide ...... ion defects of the human heart
@en-gb
A functional genetic study ide ...... ion defects of the human heart
@nl
prefLabel
A functional genetic study ide ...... ion defects of the human heart
@ast
A functional genetic study ide ...... ion defects of the human heart
@en
A functional genetic study ide ...... ion defects of the human heart
@en-gb
A functional genetic study ide ...... ion defects of the human heart
@nl
P2093
P356
P1476
A functional genetic study ide ...... ion defects of the human heart
@en
P2093
Alberto Inga
Beate Kuhls
Ilaria Traverso
Juergen Borlak
Stella Marie Reamon-Buettner
P304
P356
10.1093/HMG/DDP305
P407
P577
2009-10-01T00:00:00Z