TFAP2A mutations result in branchio-oculo-facial syndrome
about
Genotype-phenotype analysis of the branchio-oculo-facial syndromeCleft lip and palate: understanding genetic and environmental influencesDisruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lipPalatogenesis and cutaneous repair: A two-headed coinThe AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans EmbryogenesisTooth agenesis and orofacial clefting: genetic brothers in arms?New insights into craniofacial malformationsA mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial cleftingAP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesisMutations in KCTD1 cause scalp-ear-nipple syndrome.A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate riskTFAP2A is a component of the ZEB1/2 network that regulates TGFB1-induced epithelial to mesenchymal transitionCleft lip and palate genetics and application in early embryological development.A Case of Branchio-oculo-facial Syndromep63 exerts spatio-temporal control of palatal epithelial cell fate to prevent cleft palate.Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.Analysis of early human neural crest development.Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage.Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsChromosome abnormalities and the genetics of congenital corneal opacification.KCTD1 suppresses canonical Wnt signaling pathway by enhancing β-catenin degradation.A conserved Pbx-Wnt-p63-Irf6 regulatory module controls face morphogenesis by promoting epithelial apoptosis.The visual system of zebrafish and its use to model human ocular diseases.Tfap2a and 2b act downstream of Ptf1a to promote amacrine cell differentiation during retinogenesis.Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a familyOculofaciocardiodental syndrome: a rare case and review of the literature.Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataractGenome-wide analysis of p63 binding sites identifies AP-2 factors as co-regulators of epidermal differentiationGenetics of nonsyndromic orofacial cleftsTranscriptional analysis of human cranial compartments with different embryonic origins.PhenoDigm: analyzing curated annotations to associate animal models with human diseases.Identification of microdeletions in candidate genes for cleft lip and/or palate.Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domainEpigenomic annotation of enhancers predicts transcriptional regulators of human neural crestCurrent concepts in genetics of nonsyndromic cleftsEpithelial-mesenchymal transitions: the importance of changing cell state in development and disease.Genetics of cleft lip and cleft palate.Mapping the p53 transcriptome universe using p53 natural polymorphs.Roles of AP-2 transcription factors in the regulation of cartilage and skeletal development.
P2860
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P2860
TFAP2A mutations result in branchio-oculo-facial syndrome
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
TFAP2A mutations result in branchio-oculo-facial syndrome
@ast
TFAP2A mutations result in branchio-oculo-facial syndrome
@en
TFAP2A mutations result in branchio-oculo-facial syndrome
@nl
type
label
TFAP2A mutations result in branchio-oculo-facial syndrome
@ast
TFAP2A mutations result in branchio-oculo-facial syndrome
@en
TFAP2A mutations result in branchio-oculo-facial syndrome
@nl
prefLabel
TFAP2A mutations result in branchio-oculo-facial syndrome
@ast
TFAP2A mutations result in branchio-oculo-facial syndrome
@en
TFAP2A mutations result in branchio-oculo-facial syndrome
@nl
P2093
P2860
P3181
P1476
TFAP2A mutations result in branchio-oculo-facial syndrome
@en
P2093
Amy E Roberts
Angela E Lin
Geping Zhao
Heather J Stalker
Jeff M Milunsky
John B Mulliken
Michele Clemens
Michelle N Burch
Roberto T Zori
Rosemarie Smith
P2860
P304
P3181
P356
10.1016/J.AJHG.2008.03.005
P407
P577
2008-05-01T00:00:00Z