"X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein."
Kere J. , Srivastava A.K. , Montonen O. , Zonana J. , Thomas N.S.T. , Ferguson B.M. , Munoz F. , Morgan D. , Clarke A. , Baybayan P. , Chen E.Y. , Ezer S. , Saarialho-Kere U. , la Chapelle A. , Schlessinger D.
Nat. Genet.13:409-416(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations."
Monreal A.W. , Zonana J. , Ferguson B.M.
Am. J. Hum. Genet.63:380-389(1998) [PubMed] [Europe PMC] [Abstract]

"The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats."
Bayes M. , Hartung A.J. , Ezer S. , Pispa J. , Thesleff I. , Srivastava A.K. , Kere J.
Hum. Mol. Genet.7:1661-1669(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Expression of a novel transcript isoform of the EDA gene in human umbilical cord."
Kobielak K. , Kobielak A. , Trzciak W.H.
Eur. J. Hum. Genet. Suppl.7:104-104(1999)

"Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors."
Yan M. , Wang L.-C. , Hymowitz S.G. , Schilbach S. , Lee J. , Goddard A. , de Vos A.M. , Gao W.-Q. , Dixit V.M.
Science290:523-527(2000) [PubMed] [Europe PMC] [Abstract]

"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.10:953-962(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia."
Chen Y. , Molloy S.S. , Thomas L. , Gambee J. , Baechinger H.P. , Ferguson B.M. , Zonana J. , Thomas G. , Morris N.P.
Proc. Natl. Acad. Sci. U.S.A.98:7218-7223(2001) [PubMed] [Europe PMC] [Abstract]

"The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity."
Hymowitz S.G. , Compaan D.M. , Yan M. , Wallweber H.J. , Dixit V.M. , Starovasnik M.A. , de Vos A.M.
Structure11:1513-1520(2003) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia."
Hertz J.M. , Noergaard Hansen K. , Juncker I. , Kjeldsen M. , Gregersen N.
Clin. Genet.53:205-209(1998) [PubMed] [Europe PMC] [Abstract]

"Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications."
Ferguson B.M. , Thomas N.S.T. , Munoz F. , Morgan D. , Clarke A. , Zonana J.
J. Med. Genet.35:112-115(1998) [PubMed] [Europe PMC] [Abstract]

"X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)."
Martinez F. , Millan J.M. , Orellana C. , Prieto F.
J. Invest. Dermatol.113:285-286(1999) [PubMed] [Europe PMC] [Abstract]

"A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia."
Aoki N. , Ito K. , Tachibana T. , Ito M.
J. Invest. Dermatol.115:329-330(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia."
Kobielak K. , Kobielak A. , Roszkiewicz J. , Wierzba J. , Limon J. , Trzeciak W.H.
Am. J. Med. Genet.100:191-197(2001) [PubMed] [Europe PMC] [Abstract]

"Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia."
Vincent M.-C. , Biancalana V. , Ginisty D. , Mandel J.-L. , Calvas P.
Eur. J. Hum. Genet.9:355-363(2001) [PubMed] [Europe PMC] [Abstract]

"The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia."
Paeaekkoenen K. , Cambiaghi S. , Novelli G. , Ouzts L.V. , Penttinen M. , Kere J. , Srivastava A.K.
Hum. Mutat.17:349-349(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A."
Schneider P. , Street S.L. , Gaide O. , Hertig S. , Tardivel A. , Tschopp J. , Runkel L. , Alevizopoulos K. , Ferguson B.M. , Zonana J.
J. Biol. Chem.276:18819-18827(2001) [PubMed] [Europe PMC] [Abstract]

"Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia."
Vincent M.-C. , Cossee M. , Vabres P. , Stewart F. , Bonneau D. , Calvas P.
Arch. Dermatol.138:1256-1258(2002) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules."
Hsu M.M.L. , Chao S.C. , Lu A.C.H.
Br. J. Dermatol.149:443-445(2003) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia."
Tao R. , Jin B. , Guo S.Z. , Qing W. , Feng G.Y. , Brooks D.G. , Liu L. , Xu J. , Li T. , Yan Y. , He L.
J. Hum. Genet.51:498-502(2006) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , Gazdar A.F. , Hartigan J. , Wu L. , Liu C. , Parmigiani G. , Park B.H. , Bachman K.E. , Papadopoulos N. , Vogelstein B. , Kinzler K.W. , Velculescu V.E. more...
Science314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia."
Tarpey P. , Pemberton T.J. , Stockton D.W. , Das P. , Ninis V. , Edkins S. , Andrew Futreal P. , Wooster R. , Kamath S. , Nayak R. , Stratton M.R. , Patel P.I.
Am. J. Med. Genet. A143:390-394(2007) [PubMed] [Europe PMC] [Abstract]

"Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia."
van der Hout A.H. , Oudesluijs G.G. , Venema A. , Verheij J.B.G.M. , Mol B.G.J. , Rump P. , Brunner H.G. , Vos Y.J. , van Essen A.J.
Eur. J. Hum. Genet.16:673-679(2008) [PubMed] [Europe PMC] [Abstract]

"Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis."
Han D. , Gong Y. , Wu H. , Zhang X. , Yan M. , Wang X. , Qu H. , Feng H. , Song S.
Eur. J. Med. Genet.51:536-546(2008) [PubMed] [Europe PMC] [Abstract]

"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 S.J. , Christiano A.M.
Clin. Genet.75:582-584(2009) [PubMed] [Europe PMC] [Abstract]

"EDA gene mutations underlie non-syndromic oligodontia."
Song S. , Han D. , Qu H. , Gong Y. , Wu H. , Zhang X. , Zhong N. , Feng H.
J. Dent. Res.88:126-131(2009) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia."
Gunadi X. , Miura K. , Ohta M. , Sugano A. , Lee M.J. , Sato Y. , Matsunaga A. , Hayashi K. , Horikawa T. , Miki K. , Wataya-Kaneda M. , Katayama I. , Nishigori C. , Matsuo M. , Takaoka Y. , Nishio H.
Pediatr. Res.65:453-457(2009) [PubMed] [Europe PMC] [Abstract]

"Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems."
Khabour O.F. , Mesmar F.S. , Al-Tamimi F. , Al-Batayneh O.B. , Owais A.I.
Genet. Mol. Res.9:941-948(2010) [PubMed] [Europe PMC] [Abstract]

"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 M.C. , Viot G. , Clauss F. , Maniere M.C. , Toupenay S. , Le Merrer M. , Lyonnet S. , Cormier-Daire V. , Amiel J. , Faivre L. , de Prost Y. , Munnich A. , Bonnefont J.P. , Bodemer C. , Smahi A. more...
Hum. Mutat.32:70-72(2011) [PubMed] [Europe PMC] [Abstract]

"Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family."
Liu Y. , Yu X. , Wang L. , Li C. , Archacki S. , Huang C. , Liu J.Y. , Wang Q. , Liu M. , Tang Z.
Gene491:246-250(2012) [PubMed] [Europe PMC] [Abstract]

"A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus."
Piccione M. , Serra G. , Sanfilippo C. , Andreucci E. , Sani I. , Corsello G.
Minerva Pediatr.64:59-64(2012) [PubMed] [Europe PMC] [Abstract]

"Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia."
Yang Y. , Luo L. , Xu J. , Zhu P. , Xue W. , Wang J. , Li W. , Wang M. , Cheng K. , Liu S. , Tang Z. , Ring B.Z. , Su L.
J. Dent. Res.92:500-506(2013) [PubMed] [Europe PMC] [Abstract]

"Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA)."
Nikopensius T. , Annilo T. , Jagomaegi T. , Gilissen C. , Kals M. , Krjutskov K. , Maegi R. , Eelmets M. , Gerst-Talas U. , Remm M. , Saag M. , Hoischen A. , Metspalu A.
J. Dent. Res.92:507-511(2013) [PubMed] [Europe PMC] [Abstract]

"Oligodontia and curly hair occur with ectodysplasin-a mutations."
Lee K.E. , Ko J. , Shin T.J. , Hyun H.K. , Lee S.H. , Kim J.W.
J. Dent. Res.93:371-375(2014) [PubMed] [Europe PMC] [Abstract]