p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
about
Identification of signaling pathways in early mammary gland development by mouse geneticsTbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiationA C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism.Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domainsDlx genes, p63, and ectodermal dysplasias.Splitting p63DeltaNp63 knockdown mice: A mouse model for AEC syndromeAnalysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial cleftsThe p63 gene in EEC and other syndromesModeling AEC-New approaches to study rare genetic disordersStructural basis of p63α SAM domain mutants involved in AEC syndromeDominant-negative retinoic acid receptors elicit epidermal defects through a non-canonical pathwayForward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cellsEctrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare CombinationAcro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.OTX2 regulates the expression of TAp63 leading to macular and cochlear neuroepithelium development.Role of p63 and the Notch pathway in cochlea development and sensorineural deafnessDlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformationRegulation of p63 protein stability via ubiquitin-proteasome pathway.DNA damage induces expression of WWP1 to target ΔNp63α to degradationPhenotypic characterization of miR-92a-/- mice reveals an important function of miR-92a in skeletal development.The origins and evolution of the p53 family of genes.The role of p53 gene family in reproduction.p63 expression in adamantinoma.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.Epidermal stem cells: the cradle of epidermal determination, differentiation and wound healingP63 gene mutations and human developmental syndromes.Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta.Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Molecular-pathogenetic classification of genetic disorders of the skeleton.Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHGene/environment causes of cleft lip and/or palate.Marker succession during the development of keratinocytes from cultured human embryonic stem cells.Chronic ulcerative stomatitis.Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).The carboxy-terminus of p63 links cell cycle control and the proliferative potential of epidermal progenitor cells.
P2860
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P2860
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
p63 Gene mutations in eec synd ...... enotype-phenotype correlation.
@en
p63 Gene mutations in eec synd ...... enotype-phenotype correlation.
@nl
type
label
p63 Gene mutations in eec synd ...... enotype-phenotype correlation.
@en
p63 Gene mutations in eec synd ...... enotype-phenotype correlation.
@nl
prefLabel
p63 Gene mutations in eec synd ...... enotype-phenotype correlation.
@en
p63 Gene mutations in eec synd ...... enotype-phenotype correlation.
@nl
P2093
P2860
P50
P356
P1476
p63 Gene mutations in eec synd ...... genotype-phenotype correlation
@en
P2093
Brunner HG
Chitayat D
Crisponi G
Kayserili H
Majewski F
P2860
P304
P356
10.1086/323123
P407
P577
2001-07-17T00:00:00Z