Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
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EDA signaling and skin appendage developmentFurin at the cutting edge: from protein traffic to embryogenesis and diseaseHistorical perspectives on tumor necrosis factor and its superfamily: 25 years later, a golden journeyDimerization of LT R by LT 1 2 is necessary and sufficient for signal transductionFunctional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth AgenesisMutation 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)Full-length, membrane-anchored TWEAK can function as a juxtacrine signaling molecule and activate the NF-kappaB pathwayDeath receptor signaling giving life to ectodermal organs.A common founder mutation in the EDA-A1 gene in X-linked hypodontia.Collagenous transmembrane proteins: recent insights into biology and pathology.Two adjacent trimeric Fas ligands are required for Fas signaling and formation of a death-inducing signaling complexShedding of collagen XXIII is mediated by furin and depends on the plasma membrane microenvironment.Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese populationMolecular and therapeutic characterization of anti-ectodysplasin A receptor (EDAR) agonist monoclonal antibodiesEDA gene mutations underlie non-syndromic oligodontia.Mutation identification in a canine model of X-linked ectodermal dysplasiaHypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.Myodegeneration in EDA-A2 transgenic mice is prevented by XEDAR deficiency.Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.Enforced covalent trimerisation of soluble feline CD134 (OX40)-ligand generates a functional antagonist of feline immunodeficiency virus.The Edar subfamily in feather placode formation.Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.Biological activity of ectodysplasin A is conditioned by its collagen and heparan sulfate proteoglycan-binding domains.Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesisGeneration and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.Mutation of the BAFF furin cleavage site impairs B-cell homeostasis and antibody responses.Genetic Disorders of Dental Development: Tales from the Bony Crypt.Finding NEMO: genetic disorders of NF-[kappa]B activation.Mutation detection and prenatal diagnosis of XLHED pedigree.Conserved features and evolutionary shifts of the EDA signaling pathway involved in vertebrate skin appendage development.Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.A novel mutation in the ED1 gene in a patient with X-linked hypohidrotic ectodermal dysplasia.Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.
P2860
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P2860
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
Mutations leading to X-linked ...... family member ectodysplasin-A.
@en
type
label
Mutations leading to X-linked ...... family member ectodysplasin-A.
@en
prefLabel
Mutations leading to X-linked ...... family member ectodysplasin-A.
@en
P2093
P2860
P356
P1476
Mutations leading to X-linked ...... family member ectodysplasin-A.
@en
P2093
Alevizopoulos K
Ferguson BM
Tardivel A
P2860
P304
18819-18827
P356
10.1074/JBC.M101280200
P407
P577
2001-03-14T00:00:00Z