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Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63

2016-09-12 18:38:22 | BioPortfolio

Summary

Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate (EEC) and Ankyloblepharon, Ectodermal dysplasia, cleft lip and palate (AEC). Apart from symptomatic treatment, no cure is available. To understand the molecular defects associated with this disease and to identify therapeutic tools, a research team modelized the disease by reprograming EEC and AEC patient fibroblasts in pluripotent stem cells (iPSC), then induced iPSC differentiation in patients and controls epidermal (skin) and limbic (cornea) cells and demonstrated that the mutated cells can reproduce in vitro the abnormalities observed in patients.

P63 gene belongs to the family of p53 gene. The functions of the two proteins are very similar. Data suggest that molecule Prima could reactivate the p63 protein mutated in patients and thus alleviate skin defect healing and limbic regeneration.

Study Design

Time Perspective: Cross-Sectional

Conditions

Ectodermal Dysplasia

Status

Not yet recruiting

Source

Fondation Ophtalmologique Adolphe de Rothschild

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-09-12T18:38:22-0400

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PubMed Articles [391 Associated PubMed Articles listed on BioPortfolio]

Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia. A systematic review.

Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterized by hypo-/anhidrosis, hypotrichosis and hypo-/oligo-/anodontia.

Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia.

Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is an inherited disorder and generally characterized by the diminution or absence of eccrine sweat glands, oligodontia, peg shaped teeth, and spars...

An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.

Pure hair and nail ectodermal dysplasia (PHNED; MIM 602032, 614929, and 614931) is an autosomal recessive ED that is characterized by hypotrichosis and nail dystrophy only, without further ectodermal ...

Hypohidrotic ectodermal dysplasia with strabismus.

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to ...

Medical and Biotech [MESH] Definitions

An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.

An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.

A ectodysplasin receptor subtype that is specific for ECTODYSPLASIN A1. It signals via the specific signaling adaptor EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. Loss of function of the edar receptor is associated with AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA and ECTODERMAL DYSPLASIA 3, ANHIDROTIC.

Members of the TNF receptor family that are specific for ECTODYSPLASIN. At least two subtypes of the ectodysplasin receptor exist, each being specific for a ectodysplasin isoform. Signaling through ectodysplasin receptors plays an essential role in the normal ectodermal development. Genetic defects that result in loss of ectodysplasin receptor function results ECTODERMAL DYSPLASIA.

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