Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
about
The T-box familyTranscription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndromeMutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathwaysA role for Tbx5 in proepicardial cell migration during cardiogenesisTBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repressionTranscription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected]Mutation in myosin heavy chain 6 causes atrial septal defectA WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndromeTbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiationEpicardial-myocardial signaling directing coronary vasculogenesisGATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5The Kruppel-like transcription factor KLF13 is a novel regulator of heart developmentMutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndromeA gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defectsMutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathyTBX10, a member of the Tbx1-subfamily of conserved developmental genes, is located at human chromosome 11q13 and proximal mouse chromosome 19TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeFunctional analysis of TBX5 missense mutations associated with Holt-Oram syndromeMutations in the human TBX4 gene cause small patella syndrome.The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.VACTERL/VATER AssociationTbx20 regulates a genetic program essential to adult mouse cardiomyocyte functionDifferent TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutationsCooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formationSox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal deathWhen to suspect a genetic syndromeEpigenetic mechanisms in cardiac development and diseaseGenetics of congenital heart disease: the glass half emptyInvestigating the transcriptional control of cardiovascular developmentOf mice and men: molecular genetics of congenital heart diseaseGene regulatory networks in cardiac conduction system developmentThe T-box gene family: emerging roles in development, stem cells and cancerReview of the molecular development of the thumb: digit primeraFrom cardiac tissue engineering to heart-on-a-chip: beating challengesKrüppel-like factor 2 is required for normal mouse cardiac developmentInherited bradyarrhythmia: A diverse genetic backgroundThe cardiac conduction systemIdentification and localization of TBX5 transcription factor during human cardiac morphogenesisThree novel TBX5 mutations in Chinese patients with Holt-Oram syndromeJUMONJI, a critical factor for cardiac development, functions as a transcriptional repressor
P2860
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P2860
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@ast
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@en
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@en-gb
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@nl
type
label
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@ast
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@en
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@en-gb
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@nl
prefLabel
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@ast
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@en
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@en-gb
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@nl
P2093
P921
P3181
P356
P1433
P1476
Mutations in human TBX5 [corre ...... ormation in Holt-Oram syndrome
@en
P2093
C E Seidman
C T Basson
D R Bachinsky
E Kroumpouzou
J A Elkins
J G Seidman
J Leblanc-Straceski
P2860
P2888
P3181
P356
10.1038/NG0197-30
P407
P577
1997-01-01T00:00:00Z
P5875
P6179
1000860960