Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
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Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiationComplex transcriptional effects of p63 isoforms: identification of novel activation and repression domainsSSRP1 functions as a co-activator of the transcriptional activator p63Dlx genes, p63, and ectodermal dysplasias.Splitting p63DeltaNp63 knockdown mice: A mouse model for AEC syndromeSorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeThe Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal developmentAnalysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial cleftsThe p63 gene in EEC and other syndromesExome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.Structural basis of p63α SAM domain mutants involved in AEC syndromeGenomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63The SCF ubiquitin ligase: insights into a molecular machineForward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cellsSp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb developmentAltered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisSolution structure and binding specificity of the p63 DNA binding domainDlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.p53CP is p51/p63, the third member of the p53 gene family: partial purification and characterization.RNPC1, an RNA-binding protein and a target of the p53 family, regulates p63 expression through mRNA stability.Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.p63 in skin development and ectodermal dysplasias.P63 gene mutations and human developmental syndromes.Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.Bmp2, Bmp4 and Bmp7 are co-required in the mouse AER for normal digit patterning but not limb outgrowth.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Distal limb malformations: underlying mechanisms and clinical associations.17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).Pathway Regulation of p63, a Director of Epithelial Cell FateGenomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.Candidate pathway based analysis for cleft lip with or without cleft palate.p63 threonine phosphorylation signals the interaction with the WW domain of the E3 ligase ItchGene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndromeA new mutation in TP63 is associated with age-related pathology.IκB kinase β (IKKβ) inhibits p63 isoform γ (TAp63γ) transcriptional activity.The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.Split-hand/foot malformation - molecular cause and implications in genetic counseling.A symphony of regulations centered on p63 to control development of ectoderm-derived structures.
P2860
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P2860
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
description
2000 nî lūn-bûn
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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունիսին հրատարակված գիտական հոդված
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2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@ast
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@en
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@nl
type
label
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@ast
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@en
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@nl
prefLabel
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@ast
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@en
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@nl
P2093
P2860
P356
P1476
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
@en
P2093
Beighton P
Ianakiev P
Kilpatrick MW
Toudjarska I
Tsipouras P
P2860
P356
10.1086/302972
P407
P577
2000-06-05T00:00:00Z