The p63 gene in EEC and other syndromes - Wikidata - awgldk - TriplyDB

The p63 gene in EEC and other syndromes

The p63 gene in EEC and other syndromes

http://www.wikidata.org/entity/Q24679311

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Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype Tooth agenesis and orofacial clefting: genetic brothers in arms?P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63 GPX2, a direct target of p63, inhibits oxidative stress-induced apoptosis in a p53-dependent manner Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination Differentially Expressed Genes in EEC and LMS Syndromes Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.Impaired repair of cyclobutane pyrimidine dimers in human keratinocytes deficient in p53 and p63 DNA-binding and transactivation activities are essential for TAp63 protein degradation.The role of p53 gene family in reproduction.Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.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.p73 Is Required for Multiciliogenesis and Regulates the Foxj1-Associated Gene Network.Regulation of Fertility by the p53 Family Members.The midregion, nuclear localization sequence, and C terminus of PTHrP regulate skeletal development, hematopoiesis, and survival in mice.Towards a new classification of ectodermal dysplasias.Chromosomal rearrangements and copy number abnormalities of TP63 correlate with p63 protein expression in lung adenocarcinoma.Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins.Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.The functional domains in p53 family proteins exhibit both common and distinct properties.Repression of Wnt/β-catenin response elements by p63 (TP63)A new mutation in TP63 is associated with age-related pathology.DeltaNp63 antagonizes p53 to regulate mesoderm induction in Xenopus laevis.A symphony of regulations centered on p63 to control development of ectoderm-derived structures.Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.Transcriptional activation of the tumor suppressor and differentiation gene S100A2 by a novel p63-binding site.Two case reports with literature review of the EEC syndrome: Clinical presentation and management.Comprehensive mutational analysis and mRNA isoform quantification of TP63 in normal and neoplastic human prostate cells Cellular networks of human thymic medullary stromas coordinated by p53-related transcription factors.The unique NH2-terminally deleted (DeltaN) residues, the PXXP motif, and the PPXY motif are required for the transcriptional activity of the DeltaN variant of p63.Delineating Molecular Mechanisms of Squamous Tissue Homeostasis and Neoplasia: Focus on p63.Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome.Two interesting cases of EEC syndrome.ΔNp63α is an oncogene that targets chromatin remodeler Lsh to drive skin stem cell proliferation and tumorigenesis.Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.Expression of p63 and p73 in ameloblastomas.Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome

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P2860

The p63 gene in EEC and other syndromes

http://www.wikidata.org/entity/Q24679311

description

2002 nî lūn-bûn

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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2002 թվականի հունիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

The p63 gene in EEC and other syndromes

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The p63 gene in EEC and other syndromes

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The p63 gene in EEC and other syndromes

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type

label

The p63 gene in EEC and other syndromes

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The p63 gene in EEC and other syndromes

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The p63 gene in EEC and other syndromes

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prefLabel

The p63 gene in EEC and other syndromes

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The p63 gene in EEC and other syndromes

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The p63 gene in EEC and other syndromes

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P1433

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Journal of Medical Genetics

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The p63 gene in EEC and other syndromes

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P2093

B C J Hamel

http://www.w3.org/2001/XMLSchema#string

H G Brunner

http://www.w3.org/2001/XMLSchema#string

H Van Bokhoven

http://www.w3.org/2001/XMLSchema#string

P2860

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

Popliteal pterygium syndrome.

Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs

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377-81

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scholarly article

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3173588

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10.1136/JMG.39.6.377

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6

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39

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11304943

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12070241

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1735150

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