Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
about
The T-box familyA homeobox gene, vax2, controls the patterning of the eye dorsoventral axisTranscription 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]Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutationMutation in myosin heavy chain 6 causes atrial septal defectAlpha-cardiac actin mutations produce atrial septal defectsA WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndromeEpicardial-myocardial signaling directing coronary vasculogenesisGATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndromeMutations 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 syndromeThe spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked regionComprehensive molecular portraits of human breast tumoursTbx20 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 deathAdult rat bones maintain distinct regionalized expression of markers associated with their developmentEpigenetic mechanisms in cardiac development and diseaseCongenital heart disease: emerging themes linking genetics and developmentInvestigating the transcriptional control of cardiovascular developmentOf mice and men: molecular genetics of congenital heart diseaseThe gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytesIdentification and localization of TBX5 transcription factor during human cardiac morphogenesisThree novel TBX5 mutations in Chinese patients with Holt-Oram syndromeAbsence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndromeTbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in miceThe T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiatorDifferential expression and function of Tbx5 and Tbx20 in cardiac developmentConnexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum.Tbx5-hedgehog molecular networks are essential in the second heart field for atrial septationHistone deacetylase 3 modulates Tbx5 activity to regulate early cardiogenesis
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P2860
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
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
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@ast
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@en
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@en-gb
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@nl
type
label
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@ast
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@en
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@en-gb
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@nl
prefLabel
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@ast
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@en
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@en-gb
Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@nl
P2093
P2860
P921
P3181
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Holt-Oram syndrome is caused b ...... the Brachyury (T) gene family
@en
P2093
A J Buckler
A R Curtis
D I Wilson
J A Raeburn
J A Terrett
P2860
P2888
P3181
P356
10.1038/NG0197-21
P407
P577
1997-01-01T00:00:00Z
P6179
1040161535