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EDARADD was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. De plus, nous expédions EDARADD Anticorps (7) et EDARADD Kits (4) et beaucoup plus de produits pour cette protéine.
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Mouse models with HED also carry Eda, Edar or Edaradd mutations and have defects that map to the same structures.We report that otitis media, rhinitis and nasopharyngitis occur at high frequency in Eda and Edar mutant mice and explore the pathogenic mechanisms related to glandular function, microbial and immune parameters in these lines
crinkled binds EDAR through a homotypic death domain interaction and mediates engagement of the NF-kappaB pathway, possibly by recruiting TRAF2 to the receptor-signaling complex.
level of activation of Edar thus determines cusp number and tooth number during tooth development
detected a novel missense mutation c.367G>A (p.Asp123Asn) in the death domain of the gene EDARADD, which co-segregated with hypohidrotic ectodermal dysplasia in the affected family. This mutation led to an impaired ability of EDARADD to activate NF-kappaB signaling.
The study data demonstrate an association between SNP rs3916983 of the EDARADD gene and non-syndromic hypodontia in Chinese Han individuals.
The phenotypes associated with EDA1, EDAR, and EDARADD mutations were indistinguishable
a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia, mutations were identified in the EDARADD), AXIN2, MSX1, and PAX9 genes
Results demonstrate that EDARADD mutations are not a frequent cause of hypohidrotic ectodermal dysplasia, while mutations in TRAF6, TAB2 and TAK1 may not be implicated in this disease.
interacts with the death domain of Edar and links the receptor to downstream signalling pathways
crinkled binds EDAR through a homotypic death domain interaction and mediates engagement of the NF-kappaB pathway, possibly by recruiting TRAF2 to the receptor-signaling complex
This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.
EDAR-associated death domain protein
, ectodysplasin-A receptor-associated adapter protein
, crinkled homolog
, ectodysplasia A receptor associated death domain
, ectodysplasin A receptor associated adapter protein