| 1 | EDAR
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| Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia
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| Williams R, Jobling S, Sims AH, Mou C, Wilkinson L, Collu GM, Streuli CH, Gilmore AP, Headon DJ, Brennan K.
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| Oncogene. Dec 16. doi: 10.1038/s41388-021-01902-6. Epub ahead of print. 2021
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| 2 | EDAR
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| Ectodysplasin A receptor (EDAR) promotes colorectal cancer cell proliferation via regulation of the Wnt/β-catenin signaling pathway.
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| Wang B, Liang Y, Chai X, Chen S, Ye Z, Li R, Li X, Kong G, Li Y, Zhang X, Che Z, You Y, Ye S, Li L, Lin B, Huang J, Huang M, Zhang X, Qiu X, Zeng J.
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| Exp Cell Res. Oct 1;395(1):112170. doi: 10.1016/j.yexcr.2020.112170. Epub 2020 Jul 17. 2020
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| 3 | EDA3, EDAR
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| Novel EDAR mutation in tooth agenesis and variable associated features.
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| Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S.
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| Eur J Med Genet. Sep;63(9):103926. doi: 10.1016/j.ejmg.2020.103926. Epub 2020 Apr 20. 2020
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| 4 | EDAR
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| The Ectodysplasin receptor EDAR acts as a tumor suppressor in melanoma by conditionally inducing cell death
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| Vial J, Royet A, Cassier P, Tortereau A, Dinvaut S, Maillet D, Gratadou-Hupon L, Creveaux M, Sadier A, Tondeur G, Léon S, Depaepe L, Pantalacci S, de la Fouchardière A, Micheau O, Dalle S, Laudet V, Mehlen P, Castets M.
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| Cell Death Differ. Mar;26(3):443-454. doi: 10.1038/s41418-018-0128-1. Epub 2018 May 31. 2019
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| 5 | EDAR, EDARADD
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| Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.
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| Okita T, Asano N, Yasuno S, Shimomura Y.
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| J Dermatol. Aug;46(8):710-715. doi: 10.1111/1346-8138.14983. Epub 2019 Jun 27 2019
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| 6 | EDA3, EDAR
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| EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
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| Kieri CF, Bergendal B, Lind LK, Schmitt-Egenolf M, Stecksén-Blicks C.
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| BMC Med Genet. May 16;15:57. doi: 10.1186/1471-2350-15-57. 2014
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| 7 | ED12, ED3, EDA, EDAR, EDARADD, HEDAD, OODD, WNT10A
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| Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
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| 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.
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| Hum Mutat 32(1):70-2. 2011
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| 8 | EDAR, EDARADD
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| A Missense Mutation in the Death Domain of EDAR Abolishes the Interaction with EDARADD and Underlies Hypohidrotic Ectodermal Dysplasia.
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| Masui Y, Farooq M, Sato N, Fujimoto A, Fujikawa H, Ito M, Shimomura Y.
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| Dermatology ermatology. 2011 Aug 29. [Epub ahead of print]
2011
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| 9 | ED1, ED3, EDA, EDAR
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| X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
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| 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.
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| Clin Genet 78(3):257-66. Epub 2010 Feb 24.
2010
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| 10 | ED3, EDAR
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| A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
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| Wasif N, Tariq M, Ali G, Hassan MJ, Ahmad W.
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| Pediatr Dermatol 27(1):106-8.
2010
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| 11 | ED3, EDAR
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| Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.
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| Griggs BL, Ladd S, Decker A, DuPont BR, Asamoah A, Srivastava AK.
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| Eur J Hum Genet 17(1):30-6. Epub 2008 Oct 15.
2009
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| 12 | EDAR
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| A common variation in EDAR is a genetic determinant of shovel-shaped incisors.
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| 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.
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| Am J Hum Genet 85(4):528-35.
2009
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| 13 | ED1, ED3, EDA, EDAR
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| Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
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| Shimomura Y, Wajid M, Weiser J, Kraemer L, Ishii Y, Lombillo V, Bale SJ, Christiano AM.
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| Clin Genet 75(6):582-4. Epub 2009 May 5. No abstract available.
2009
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| 14 | ED1, ED3, EDA, EDAR, EDARADD
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| Molecular aspects of hypohidrotic ectodermal dysplasia.
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| Mikkola ML.
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| Am J Med Genet A 149A(9):2031-6. Review.PMID: 19681132 2009
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| 15 | EDA, EDAR
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| Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction.
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| 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.
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| Dev Cell 17(1):49-61.PMID: 19619491 2009
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| 16 | EDAR
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| Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands.
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| Chang SH, Jobling S, Brennan K, Headon DJ.
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| PLoS One 4(10):e7591.
2009
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| 17 | ED3, EDAR
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| A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.
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| Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, Kimura R, Tokunaga K.
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| Hum Genet 124(2):179-85. Epub 2008 Aug 13.
2008
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| 18 | EDAR
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| A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.
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| 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.
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| Hum Mol Genet 17(6):835-43. Epub 2007 Dec 8. 2008
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| 19 | ED3, EDAR
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| Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
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| van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.
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| Eur J Hum Genet 16(6):673-9. Epub 2008 Jan 30. 2008
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| 20 | ED3, EDAR
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| Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.
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| Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A.
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| Am J Med Genet A 146A(20):2657-62. 2008
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| 21 | ED1, ED3, EDA, EDAR
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| Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
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| RamaDevi AR, Reddy EC, Ranjan S, Bashyam MD.
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| Br J Dermatol 158(1):163-7. Epub 2007 Oct 26. No abstract available. PMID: 17970812 2008
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| 22 | EDAR, TNFRSF19
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| Edar and Troy signalling pathways act redundantly to regulate initiation of hair follicle development.
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| Pispa J, Pummila M, Barker PA, Thesleff I, Mikkola ML.
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| Hum Mol Genet 17(21):3380-91. Epub 2008 Aug 9.PMID: 18689798 2008
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| 23 | EDAR
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| A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia.
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| Tariq M, Wasif N, Ahmad W.
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| Br J Dermatol 157(1):207-9. Epub 2007 May 14. No abstract available. 2007
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| 24 | EDAR, ED3
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| Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
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| Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC.
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| Hum Mutat 27(3):255-9. 2006
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| 25 | EDAR, EDARADD, MAP3K7, TAB2, TRAF6
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| TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
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| Morlon A, Munnich A, Smahi A.
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| Hum Mol Genet 14(23):3751-7. Epub 2005 Oct 26. 2005
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| 26 | EDAR, ED3
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| Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
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| Naeem M, Muhammad D, Ahmad W.
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| Br J Dermatol 153(1):46-50. 2005
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| 27 | ED1, EDAR, EDARADD
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| The ectodysplasin pathway in feather tract development.
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| Houghton L, Lindon C, Morgan BA.
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| Development 132(5):863-72. Epub 2005 Jan 26.
2005
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| 28 | EDAR, ED3
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| A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.
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| Shimomura Y, Sato N, Miyashita A, Hashimoto T, Ito M, Kuwano R.
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| J Invest Dermatol 123(4):649-55. 2004
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| 29 | EDAR, EDARADD, EDA2R
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| The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
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| Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A.
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| Hum Mol Genet 11(20):2371-5. 2002
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| 30 | EDA, EDAR
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| Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
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| Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J.
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| Hum Mol Genet 10(9):953-62. 2001
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| 31 | EDAR, EDARADD, HEDAD
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| Gene defect in ectodermal dysplasia implicates a death domain adapter in development.
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| Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA.
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| Nature 414(6866):913-6. 2001
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| 32 | EDAR
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| The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
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| Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM.
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| J Biol Chem 276(4):2668-77. 2001
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| 33 | ED1, EDA, EDAR
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| 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.
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| Laurikkala J, Mikkola M, Mustonen T, Aberg T, Koppinen P, Pispa J, Nieminen P, Galceran J, Grosschedl R, Thesleff I.
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| Dev Biol 229(2):443-55. 2001
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| 34 | ED1, EDA, EDAR, EDA2R
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| Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.
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| Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM.
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| Science 290(5491):523-7. 2000
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| 35 | ED3, EDAR
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| Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
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| Monreal AW, et al.
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| Nat Genet 22(4):366-9. 1999
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| 36 | ED3, EDAR
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| Involvement of a novel Tnf receptor homologue in hair follicle induction.
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| Headon DJ, et al.
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| Nat Genet 22(4):370-4. 1999
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