Genotype-phenotype analysis of the branchio-oculo-facial syndrome
about
The AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans EmbryogenesisTfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage.Whole exome sequence analysis of Peters anomaly.Tfap2a and 2b act downstream of Ptf1a to promote amacrine cell differentiation during retinogenesis.TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.Overlapping expression patterns and redundant roles for AP-2 transcription factors in the developing mammalian retina.Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domainModeling craniofacial and skeletal congenital birth defects to advance therapies.Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population.Aberrant CpG methylation of the TFAP2A gene constitutes a mechanism for loss of TFAP2A expression in human metastatic melanomaMllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial developmentA clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.Genome-wide Chromatin Mapping Defines AP2α in the Etiology of Craniofacial Disorders.A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.The atypical mitogen-activated protein kinase ERK3 is essential for establishment of epithelial architecture.Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study
P2860
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P2860
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@ast
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@en
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@en-gb
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@nl
type
label
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@ast
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@en
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@en-gb
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@nl
prefLabel
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@ast
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@en
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@en-gb
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@nl
P2093
P2860
P50
P3181
P356
P1476
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
@en
P2093
Amy Roberts
Andre Megarbane
Angela E Lin
Angharad Roberts
Audrey Karlea
Augusta M Lachmeijer
C Renai Ray
David Chitayat
Geping Zhao
Heather J Stalker
P2860
P3181
P356
10.1002/AJMG.A.33783
P407
P577
2011-01-01T00:00:00Z