Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
about
TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repressionA WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndromeIdentification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndromeCooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heartDifferential expression and function of Tbx5 and Tbx20 in cardiac developmentAnalysis of the signals and mechanisms mediating nuclear trafficking of GATA-4. Loss of DNA binding is associated with localization in intranuclear specklesTBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotypeA de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotypeSynergistic activation of cardiac genes by myocardin and Tbx5.T-box 3 negatively regulates osteoblast differentiation by inhibiting expression of osterix and runx2Holt Oram syndrome: a registry-based study in Europe.Identification of functional mutations in GATA4 in patients with congenital heart diseaseTranscription factor MEF2A mutations in patients with coronary artery disease.Molecular Basis of Gene-Gene Interaction: Cyclic Cross-Regulation of Gene Expression and Post-GWAS Gene-Gene Interaction Involved in Atrial Fibrillation.Myosin phosphatase modulates the cardiac cell fate by regulating the subcellular localization of Nkx2.5 in a Wnt/Rho-associated protein kinase-dependent pathway.Genetic basis of hindlimb loss in a naturally occurring vertebrate model.T-box factors determine cardiac design.The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac SeptationHox5 interacts with Plzf to restrict Shh expression in the developing forelimb.Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function.Molecular mechanisms by which T-bet regulates T-helper cell commitment.Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.Distinct expression and function of alternatively spliced Tbx5 isoforms in cell growth and differentiation.Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis.Cloning and characterization of the human SH3BP2 promoter.Jmjd3 and UTX play a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expressionFunctional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.TBX3 and its splice variant TBX3 + exon 2a are functionally similar.Microarray analysis of Tbx5-induced genes expressed in the developing heart.Genome-Wide Association Identifies TBX5 as Candidate Gene for Osteochondrosis Providing a Functional Link to Cartilage Perfusion as Initial Factor.A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population.Transactivation in Drosophila of human enhancers by human transcription factors involved in congenital heart diseases.Expression pattern of the Brachyury and Tbx2 homologues from the sponge Suberites domuncula.Targeting AGGF1 (angiogenic factor with G patch and FHA domains 1) for Blocking Neointimal Formation After Vascular Injury.Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.Anti-apoptotic effects of IGF-I on mortality and dysmorphogenesis in tbx5-deficient zebrafish embryos.
P2860
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P2860
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@ast
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@en
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@en-gb
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@nl
type
label
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@ast
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@en
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@en-gb
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@nl
prefLabel
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@ast
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@en
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@en-gb
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@nl
P2093
P2860
P921
P356
P1476
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
@en
P2093
P2860
P304
P356
10.1074/JBC.M208120200
P407
P577
2003-03-07T00:00:00Z