Ricerca - p63 EEC SYNDROME

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PDF hosted at the Radboud Repository of the Radboud University Nijmegen – p63-Associated Disorders

TP63 Gene Mutations in Chinese P63 Syndrome Patients

Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal Dysplasia

Role of the newer p53 family proteins in malignancy

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

EEC Syndrome Type 3 With a Heterozygous Germline Mutation in the P63 Gene and B Cell Lymphoma

Genotype–Phenotype Correlations in Mapped Split Hand Foot Malformation (SHFM) Patients

Pattern of p63 Mutations and Their Phenotypes—Update

Further Phenotypic and Genetic Variation in ADULT Syndrome

A Newborn With Overlapping Features of AEC and EEC Syndromes

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia

Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp Hodgkin syndrome

Isoform-Specific Roles of Mutant p63 in Human Diseases

Regulation of the Cyclin-Dependent Kinase Inhibitor p57Kip2 Expression by p63

The Hay Wells Syndrome-Derived TAp63αQ540L Mutant has Impaired Transcriptional and Cell Growth Regulatory Activity

The retinal dehydrogenase/reductase retSDR1/DHRS3 gene is activated by p53 and p63 but not by mutants derived from tumors or EEC/ADULT malformation syndromes

Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity

DLX5, FGF8 and the Pin1 isomerase control DNp63a protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations

Mechanisms of transcriptional repression of cell-cycle G2/M promoters by p63

Transcriptional activation of the tumor suppressor and differentiation gene S100A2 by a novel p63-binding site

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63

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

Gain-of-function mutation in ADULT syndrome reveals the presence of second transactivation domain in p63

EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

Analysis and pharmacological modulation of senescence in human epithelial stem cells

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome

ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome

ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome

Amino-terminal residues of DNp63, mutated in ectodermal dysplasia, are required for its transcriptional activity

Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape

R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy

Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27)

A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism

Meibografía infrarroja y evaluación molecular de la mutación del gen p63 en un paciente mexicano con síndrome EEC

Limbal Stem Cell Deficiency and Ocular Phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Caused by p63 Mutations

A 19-year follow-up of a patient with type 3 ectrodactyly– ectodermal dysplasia– clefting syndrome who developed non-Hodgkin lymphoma

Differential altered stability and transcriptional activity of Np63 mutants in distinct ectodermal dysplasias

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split hand/foot malformation with hypodontia

p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly

Complex Transcriptional Effects of p63 Isoforms: Identification of Novel Activation and Repression Domains

TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotypephenotype correlation analyses of TP63‐related disorders

Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Development of an Allele-Specific Real-Time PCR Assay for Discrimination and Quantification of p63 R279H Mutation in EEC Syndrome

Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET

APR-246/PRIMA-1MET rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation

Sweating ability of patients with p63-associated syndromes

Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

A new mutation in TP63 is associated with age-related pathology

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

Special AT-rich Binding Protein-2 (SATB2) Differentially Affects Disease-causing p63 Mutant Proteins*