Ectodermal dysplasias: a new clinical-genetic classification - Wikidata - awgldk - TriplyDB

Ectodermal dysplasias: a new clinical-genetic classification

Ectodermal dysplasias: a new clinical-genetic classification

http://www.wikidata.org/entity/Q34090412

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Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia Dlx genes, p63, and ectodermal dysplasias.WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome Molecular basis of hypohidrotic ectodermal dysplasia: an update Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.Targeted skin overexpression of the mineralocorticoid receptor in mice causes epidermal atrophy, premature skin barrier formation, eye abnormalities, and alopecia.Orofacial features of hypohidrotic ectodermal dysplasia Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation.The homeoprotein DLX3 and tumor suppressor p53 co-regulate cell cycle progression and squamous tumor growth Ectodermal dysplasia with amastia: a case of one-step reconstruction.Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.Subretinal fibrosis and uveitis syndrome in a patient with ectodermal dysplasia.Ectodermal dysplasia - Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature.Mutation detection and prenatal diagnosis of XLHED pedigree.Conventional Complete Denture in Patients with Ectodermal Dysplasia.Oral rehabilitation of children with ectodermal dysplasia.An unusual ectodermal dysplasia with unique eye defects.ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.Clinical and histological characterization of hair coat and glandular tissue of Chinese crested dogs.Six-Year Survival of a Mini Dental Implant-Retained Overdenture in a Child with Ectodermal Dysplasia.Hypohidrotic ectodermal dysplasia: a multidisciplinary approach.Dentomaxillofacial characteristics of ectodermal dysplasia.Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia.Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.2008 International Conference on Ectodermal Dysplasias Classification: conference report.Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model

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P2860

Ectodermal dysplasias: a new clinical-genetic classification

http://www.wikidata.org/entity/Q34090412

description

2001 nî lūn-bûn

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2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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Ectodermal dysplasias: a new clinical-genetic classification

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Ectodermal dysplasias: a new clinical-genetic classification

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Journal of Medical Genetics

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Ectodermal dysplasias: a new clinical-genetic classification

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Laganà C

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions

Nectin/PRR: an immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with Afadin, a PDZ domain-containing protein

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

TAJ, a novel member of the tumor necrosis factor receptor family, activates the c-Jun N-terminal kinase pathway and mediates caspase-independent cell death

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

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

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1734928

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