Ectodysplasin A receptor: The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor.
genes
References
Arte S, Parmanen S, Pirinen S, Alaluusua S, Nieminen P. Candidate geneanalysis of tooth agenesis identifies novel mutations in six genes and suggestssignificant role for WNT and EDA signaling and allele combinations. PLoS One.2013 Aug 22;8(8):e73705. doi: 10.1371/journal.pone.0073705.
Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M,Basit S, Ahmad W. Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidroticectodermal dysplasia. Arch Dermatol Res. 2009 Sep;301(8):625-9. doi:10.1007/s00403-009-0975-1.
Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, DeviAR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R,Kumar R, Hariharan SV. A founder ectodysplasin A receptor (EDAR) mutation resultsin a high frequency of the autosomal recessive form of hypohidrotic ectodermaldysplasia in India. Br J Dermatol. 2012 Apr;166(4):819-29. doi:10.1111/j.1365-2133.2011.10707.x.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E,Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M,Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, BonnefontJP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) accountfor 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011Jan;32(1):70-2. doi: 10.1002/humu.21384.
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J.Mutations in the human homologue of mouse dl cause autosomal recessive anddominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999 Aug;22(4):366-9.
Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in twoPakistani consanguineous families with autosomal recessive hypohidroticectodermal dysplasia. Br J Dermatol. 2005 Jul;153(1):46-50.
Wiśniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances inunderstanding of the molecular basis of anhidrotic ectodermal dysplasia:discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet.2002;43(1):97-107. Review.
Wohlfart S, Hammersen J, Schneider H. Mutational spectrum in 101 patients withhypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. J Hum Genet. 2016 Oct;61(10):891-897. doi:10.1038/jhg.2016.75.
Wright JT, Grange DK, Fete M. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28[updated 2017 Jun 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1112/
Wu S, Tan J, Yang Y, Peng Q, Zhang M, Li J, Lu D, Liu Y, Lou H, Feng Q, Lu Y, Guan Y, Zhang Z, Jiao Y, Sabeti P, Krutmann J, Tang K, Jin L, Xu S, Wang S.Genome-wide scans reveal variants at EDAR predominantly affecting hairstraightness in Han Chinese and Uyghur populations. Hum Genet. 2016Nov;135(11):1279-1286.
Zeng B, Zhao Q, Li S, Lu H, Lu J, Ma L, Zhao W, Yu D. Novel EDA or EDARMutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. Genes (Basel). 2017 Oct 5;8(10). pii: E259. doi:10.3390/genes8100259.
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