The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2011.10620.x/fullpdf
Reference10 articles.
1. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases;Cluzeau;Hum Mutat,2011
2. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors;Yan;Science,2000
3. Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression;Pummila;Development,2007
4. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form;Mou;Hum Mutat,2008
5. Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation;Bryk;PLoS ONE,2008
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1. Molecular basis and genetics of hypohidrotic ectodermal dysplasias;Vavilov Journal of Genetics and Breeding;2023-11-02
2. Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency;Children;2023-02-10
3. No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia;Orphanet Journal of Rare Diseases;2021-02-23
4. Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia;European Journal of Human Genetics;2020-06-04
5. Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study;Orphanet Journal of Rare Diseases;2020-01-10
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