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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.
Time Perspective: Cross-Sectional
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Fondation Ophtalmologique Adolphe de Rothschild
Published on BioPortfolio: 2016-09-12T18:38:22-0400
The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an inv...
The amendment to Clinical Protocol 86-D-0015, clinical study of Oral Endosseous Titanium Implants in Edentulous subjects, and patients with Ectodermal Dysplasia is to allow the Investigato...
Chronic intestinal inflammation produce dysplasia more frequently than the normal population. The therapies protect against these changes, but do not rule out dysplasia. It is not known th...
Developmental dysplasia of the hip (DDH), formerly known as congenital dislocation of the hip, comprises a spectrum of abnormalities that include abnormal acetabular shape (dysplasia) and ...
OBJECTIVES: I. Determine the mode of inheritance of nonsyndromal Mondini inner ear dysplasia, an inner ear malformation causing deafness, vestibular dysfunction, and recurrent meningitis...
Ectodermal dysplasia is a rare, hereditary, congenital disease that affects the normal development of certain tissues and structures of ectodermal origin. The disease is manifested to different degree...
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...
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 (HED) is a rare ectodermal disease with a systemic expression. Oral abnormalities are common and may include hypodontia and shape irregularities in the primary and pe...
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.
Anything that breaks the skin is a wound because when the skin is broken, there's a risk of germs getting into the body and causing an infection. Follow and track Wound Care News on BioPortfolio: Wound Car...
Ophthalmology is the branch of medicine that is devoted to the study and treatment of eye diseases. As well as mild visual defects correctable by lenses, ophthalmology is concerned with glaucoma, uveitis and other serious conditions affecting the eye, ...