The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
about
The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparinRole of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptorRegulation of dental enamel shape and hardnessMutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasiaEDA signaling and skin appendage developmentMolecular basis of hypohidrotic ectodermal dysplasia: an updateFunctional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth AgenesisThe ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin ATissue expression, protease specificity, and Kunitz domain functions of hepatocyte growth factor activator inhibitor-1B (HAI-1B), a new splice variant of HAI-1Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasiaTwo novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A)Zebrafish eda and edar mutants reveal conserved and ancestral roles of ectodysplasin signaling in vertebrates.Ectodermal dysplasias: not only 'skin' deep.Death receptor signaling giving life to ectodermal organs.Type XIII collagen and some other transmembrane collagens contain two separate coiled-coil motifs, which may function as independent oligomerization domains.A common founder mutation in the EDA-A1 gene in X-linked hypodontia.To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat BreedPartial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle.Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese populationGenetic architecture of skeletal evolution in European lake and stream stickleback.Involvement of the Edar signaling in the control of hair follicle involution (catagen).Mutation identification in a canine model of X-linked ectodermal dysplasiaClinical and genetic aspects of X-linked ectodermal dysplasia in the dog -- a review including three new spontaneous cases.Human glucocorticoid-induced TNF receptor ligand regulates its signaling activity through multiple oligomerization states.Developmental biology and genetics of dental malformations.Ectodysplasin A Pathway Contributes to Human and Murine Skin Repair.Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesisImpact of next generation sequencing on diagnostics in a genetic skin disease clinic.Adenoviral-mediated gene transfer of ectodysplasin-A2 results in induction of apoptosis and cell-cycle arrest in osteosarcoma cell lines.A short sequence in the N-terminal region is required for the trimerization of type XIII collagen and is conserved in other collagenous transmembrane proteins.Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.Functional characterization of the promoter of the X-linked ectodermal dysplasia gene.Effect of an EDA-A1 gene mutant on the proliferation and cell cycle distribution of cultured human umbilical vein endothelial cells.Type XIII collagen forms homotrimers with three triple helical collagenous domains and its association into disulfide-bonded trimers is enhanced by prolyl 4-hydroxylase.Craniofacial tissues including tooth buds in fetal hypohidrotic ectodermal dysplasia.Characterization of the impact of alternative splicing on protein dynamics: the cases of glutathione S-transferase and ectodysplasin-A isoforms.A novel mutation in the ED1 gene in a patient with X-linked hypohidrotic ectodermal dysplasia.A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia.
P2860
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P2860
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
description
1998 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1998
@ast
im Oktober 1998 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1998/10/01)
@sk
vědecký článek publikovaný v roce 1998
@cs
wetenschappelijk artikel (gepubliceerd op 1998/10/01)
@nl
наукова стаття, опублікована в жовтні 1998
@uk
مقالة علمية (نشرت في أكتوبر 1998)
@ar
name
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@ast
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@en
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@nl
type
label
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@ast
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@en
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@nl
prefLabel
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@ast
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@en
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@nl
P2093
P2860
P3181
P356
P1476
The anhidrotic ectodermal dysp ...... tations in collagenous repeats
@en
P2093
A. J. Hartung
A. K. Srivastava
I. Thesleff
P2860
P304
P3181
P356
10.1093/HMG/7.11.1661
P407
P50
P577
1998-10-01T00:00:00Z