Citations for
1ED12, ED3, EDA, EDAR, EDARADD, HEDAD, OODD, WNT10A
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
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, Bonnefont JP, Bodemer C, Smahi A.
Hum Mutat 32(1):70-2. 2011
2EDAR, EDARADD
A Missense Mutation in the Death Domain of EDAR Abolishes the Interaction with EDARADD and Underlies Hypohidrotic Ectodermal Dysplasia.
Masui Y, Farooq M, Sato N, Fujimoto A, Fujikawa H, Ito M, Shimomura Y.
Dermatology ermatology. 2011 Aug 29. [Epub ahead of print] 2011
3ED1, ED3, EDA, EDAR
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M.
Clin Genet 78(3):257-66. Epub 2010 Feb 24. 2010
4ED3, EDAR
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
Wasif N, Tariq M, Ali G, Hassan MJ, Ahmad W.
Pediatr Dermatol 27(1):106-8. 2010
5ED3, EDAR
Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.
Griggs BL, Ladd S, Decker A, DuPont BR, Asamoah A, Srivastava AK.
Eur J Hum Genet 17(1):30-6. Epub 2008 Oct 15. 2009
6EDAR
A common variation in EDAR is a genetic determinant of shovel-shaped incisors.
Kimura R, Yamaguchi T, Takeda M, Kondo O, Toma T, Haneji K, Hanihara T, Matsukusa H, Kawamura S, Maki K, Osawa M, Ishida H, Oota H.
Am J Hum Genet 85(4):528-35. 2009
7ED1, ED3, EDA, EDAR
Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
Shimomura Y, Wajid M, Weiser J, Kraemer L, Ishii Y, Lombillo V, Bale SJ, Christiano AM.
Clin Genet 75(6):582-4. Epub 2009 May 5. No abstract available. 2009
8ED1, ED3, EDA, EDAR, EDARADD
Molecular aspects of hypohidrotic ectodermal dysplasia.
Mikkola ML.
Am J Med Genet A 149A(9):2031-6. Review.PMID: 19681132 2009
9EDA, EDAR
Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction.
Zhang Y, Tomann P, Andl T, Gallant NM, Huelsken J, Jerchow B, Birchmeier W, Paus R, Piccolo S, Mikkola ML, Morrisey EE, Overbeek PA, Scheidereit C, Millar SE, Schmidt-Ullrich R.
Dev Cell 17(1):49-61.PMID: 19619491 2009
10EDAR
Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands.
Chang SH, Jobling S, Brennan K, Headon DJ.
PLoS One 4(10):e7591. 2009
11ED3, EDAR
A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.
Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, Kimura R, Tokunaga K.
Hum Genet 124(2):179-85. Epub 2008 Aug 13. 2008
12EDAR
A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.
Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L, Mustofa MS, Samakkarn U, Settheetham-Ishida W, Ishida T, Morishita Y, Furusawa T, Nakazawa M, Ohtsuka R, Tokunaga K.
Hum Mol Genet 17(6):835-43. Epub 2007 Dec 8. 2008
13ED3, EDAR
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.
Eur J Hum Genet 16(6):673-9. Epub 2008 Jan 30. 2008
14ED3, EDAR
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.
Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A.
Am J Med Genet A 146A(20):2657-62. 2008
15ED1, ED3, EDA, EDAR
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
RamaDevi AR, Reddy EC, Ranjan S, Bashyam MD.
Br J Dermatol 158(1):163-7. Epub 2007 Oct 26. No abstract available. PMID: 17970812 2008
16EDAR, TNFRSF19
Edar and Troy signalling pathways act redundantly to regulate initiation of hair follicle development.
Pispa J, Pummila M, Barker PA, Thesleff I, Mikkola ML.
Hum Mol Genet 17(21):3380-91. Epub 2008 Aug 9.PMID: 18689798 2008
17EDAR
A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia.
Tariq M, Wasif N, Ahmad W.
Br J Dermatol 157(1):207-9. Epub 2007 May 14. No abstract available. 2007
18EDAR, ED3
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC.
Hum Mutat 27(3):255-9. 2006
19EDAR, EDARADD, MAP3K7, TAB2, TRAF6
TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
Morlon A, Munnich A, Smahi A.
Hum Mol Genet 14(23):3751-7. Epub 2005 Oct 26. 2005
20EDAR, ED3
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
Naeem M, Muhammad D, Ahmad W.
Br J Dermatol 153(1):46-50. 2005
21ED1, EDAR, EDARADD
The ectodysplasin pathway in feather tract development.
Houghton L, Lindon C, Morgan BA.
Development 132(5):863-72. Epub 2005 Jan 26. 2005
22EDAR, ED3
A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.
Shimomura Y, Sato N, Miyashita A, Hashimoto T, Ito M, Kuwano R.
J Invest Dermatol 123(4):649-55. 2004
23EDAR, EDARADD, EDA2R
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A.
Hum Mol Genet 11(20):2371-5. 2002
24EDA, EDAR
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J.
Hum Mol Genet 10(9):953-62. 2001
25EDAR, EDARADD, HEDAD
Gene defect in ectodermal dysplasia implicates a death domain adapter in development.
Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA.
Nature 414(6866):913-6. 2001
26EDAR
The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM.
J Biol Chem 276(4):2668-77. 2001
27ED1, EDA, EDAR
TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis.
Laurikkala J, Mikkola M, Mustonen T, Aberg T, Koppinen P, Pispa J, Nieminen P, Galceran J, Grosschedl R, Thesleff I.
Dev Biol 229(2):443-55. 2001
28ED1, EDA, EDAR, EDA2R
Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.
Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM.
Science 290(5491):523-7. 2000
29ED3, EDAR
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
Monreal AW, et al.
Nat Genet 22(4):366-9. 1999
30ED3, EDAR
Involvement of a novel Tnf receptor homologue in hair follicle induction.
Headon DJ, et al.
Nat Genet 22(4):370-4. 1999