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ectodermal dysplasia/proline
Veza se sprema u međuspremnik
8 rezultati
Salivary gland function in persons with ectodermal dysplasias.
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Ectodermal dysplasias (EDs) constitute a group of conditions comprising developmental defects in two or more of the following tissues: hair, teeth, nails, and sweat glands. The aim of the present study was to contribute to a better understanding of salivary gland involvement in EDs. An ED group (n =
Salivary gland involvement in hypohidrotic ectodermal dysplasia.
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Ectodermal dysplasias (EDs) are a group of developmental disorders (more than 100) mainly affecting ectodermal tissues and organs. The X-linked hypohidrotic ED (HED) is the most common form of EDs, involving defects in teeth, sweat glands, and hair. In a few reports, HED has been associated with
[Mutation analysis of the eda-A1 gene for hypohidrotic ectodermal dysplasia and construction of recombined eukaryotic expression vector].
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OBJECTIVE
The purpose of this study was to clone and analyze mutation in the eda-A1 gene for hypohidrotic ectodermal dysplasia (HED), and to construct a new recombined eukaryotic expression vector (mutant M, wild W) as a basis for further study on the genetic function.
METHODS
After total mRNA was
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
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Pachyonychia congenita (PC) is a group of inherited ectodermal dysplasias, the characteristic phenotype being hypertrophic nail dystrophy. Two main clinical subtypes, PC-1 and PC-2, are inherited as autosomal dominant disorders, but other less well characterized clinical forms also exist. The PC-1
Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant.
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The E3 ubiquitin ligase Itch mediates the degradation of the p63 protein. Itch contains four WW domains which are pivotal for the substrate recognition process. Indeed, this domain is implicated in several signalling complexes crucially involved in human diseases including Muscular Dystrophy,
Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.
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BACKGROUND
AEC (ankyloblepharon-ectodermal defects-clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63. Clinically, the skin is dry and often fragile; other features can include partial eyelid fusion (ankyloblepharon),
Meibomian Gland Absence Related Dry Eye in Ectodysplasin A Mutant Mice.
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Meibomian gland dysfunction is the most frequent cause of evaporative dry eye, yet its underlying pathophysiology is unknown. To gain insight into this pathophysiology, we characterized the time-dependent tear film and ocular surface changes occurring in X-linked anhidrotic-hypohidrotic ectodermal
Sweating ability of patients with p63-associated syndromes.
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Sweating deficiency has been reported to represent a cardinal symptom of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome, two rare p63-associated disorders. According to online resources, hypohidrosis may lead to most
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