| 1 | ED1, EDA
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| A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome.
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| Kinyó A, Vályi P, Farkas K, Nagy N, Gergely B, Tripolszki K, Török D, Bata-Csörgő Z, Kemény L, Széll M.
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| Arch Dermatol Res 306(1):97-100. doi: 10.1007/s00403-013-1408-8. Epub 2013 Aug 30.
2014
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| 2 | EDA, FOXI3
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| Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes.
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| Shirokova V, Jussila M, Hytönen MK, Perälä N, Drögemüller C, Leeb T, Lohi H, Sainio K, Thesleff I, Mikkola ML.
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| Dev Dyn 242(6):593-603. doi: 10.1002/dvdy.23952. Epub 2013 Apr 9.
2013
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| 3 | EDA
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| Ectodysplasin regulates hormone-independent mammary ductal morphogenesis via NF-κB.
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| Voutilainen M, Lindfors PH, Lefebvre S, Ahtiainen L, Fliniaux I, Rysti E, Murtoniemi M, Schneider P, Schmidt-Ullrich R, Mikkola ML.
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| Proc Natl Acad Sci U S A 109(15):5744-9. doi: 10.1073/pnas.1110627109. Epub 2012 Mar 26.
2012
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| 4 | 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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| 5 | EDA
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| Ectodysplasin and Wnt pathways are required for salivary gland branching morphogenesis.
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| Häärä O, Fujimori S, Schmidt-Ullrich R, Hartmann C, Thesleff I, Mikkola ML.
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| Development 138(13):2681-91. doi: 10.1242/dev.057711.
2011
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| 6 | EDA, HYDX
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| Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
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| Mues G, Tardivel A, Willen L, Kapadia H, Seaman R, Frazier-Bowers S, Schneider P, D'Souza RN.
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| Eur J Hum Genet 18(1):19-25. Epub .PMID: 19623212 2010
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| 7 | EDA, HMGA2, HOXB2, IGF2BP1, KCNJ2, MSRB3, RAD51B
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| Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
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| Pillas D, Hoggart CJ, Evans DM, O'Reilly PF, Sipilä K, Lähdesmäki R, Millwood IY, Kaakinen M, Netuveli G, Blane D, Charoen P, Sovio U, Pouta A, Freimer N, Hartikainen AL, Laitinen J, Vaara S, Glaser B, Crawford P, Timpson NJ, Ring SM, Deng G, Zhang W, McCarthy MI, Deloukas P, Peltonen L, Elliott P, Coin LJ, Smith GD, Jarvelin MR.
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| PLoS Genet 6(2):e1000856. 2010
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| 8 | ED1, EDA
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| Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.
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| Khabour OF, Mesmar FS, Al-Tamimi F, Al-Batayneh OB, Owais AI.
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| Genet Mol Res 9(2):941-8.PMID: 20486090 2010
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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 | 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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| 11 | ED1, EDA
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| Consequences of X-linked hypohidrotic ectodermal dysplasia for the human jaw bone.
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| Lesot H, Clauss F, Manière MC, Schmittbuhl M.
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| Front Oral Biol 13:93-9. Epub 2009 Sep 21.PMID: 19828977 2009
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| 12 | ED1, EDA
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| Gene therapy and protein therapy of ectodermal dysplasias: a perspective.
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| Gaide O.
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| Am J Med Genet A 149A(9):2042-4.PMID: 19681129 2009
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| 13 | 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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| 14 | EDA
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| Biological activity of ectodysplasin A is conditioned by its collagen and heparan sulfate proteoglycan-binding domains.
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| Swee LK, Ingold-Salamin K, Tardivel A, Willen L, Gaide O, Favre M, Demotz S, Mikkola M, Schneider P.
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| J Biol Chem 284(40):27567-76. Epub 2009 Aug 5.PMID: 19657145 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 | EDA
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| Analysis of the temporal requirement for eda in hair and sweat gland development.
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| Cui CY, Kunisada M, Esibizione D, Douglass EG, Schlessinger D.
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| J Invest Dermatol 129(4):984-93. Epub 2008 Oct 16.PMID: 18923450 2009
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| 17 | ED1, EDA
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| X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
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| Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM.
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| Clin Genet 74(3):252-9. Epub 2008 May 28.
2008
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| 18 | EDA, HYDX
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| A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.
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| Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, Entesarian M, Dahl N, Baig SM.
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| J Hum Genet 53(10):894-8. Epub 2008 Aug 9.
2008
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| 19 | 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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| 20 | ED1, EDA
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| Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia.
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| Zhao J, Hua R, Zhao X, Meng Y, Ao Y, Liu Q, Shang D, Sun M, Lo WH, Zhang X.
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| Br J Dermatol 158(3):614-7. Epub 2007 Dec 11. No abstract available. PMID: 18076698 2008
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| 21 | EDA, HYDX
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| A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.
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| Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI.
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| Am J Med Genet A 143(4):390-4. No abstract available. 2007
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| 22 | CFNS, EFNB1, OPHN1, PJA1, EDA
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| Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
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| Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.
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| Clin Genet 72(6):506-16. Epub 2007 Oct 16. 2007
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| 23 | EDA, HYDX
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| A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.
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| Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, He L.
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| J Hum Genet 51(5):498-502. Epub 2006 Apr 1. 2006
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| 24 | EDA
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| The EDA gene is a target of, but does not regulate Wnt signaling.
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| Durmowicz MC, Cui CY, Schlessinger D.
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| Gene 285(1-2):203-11. 2002
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| 25 | ED1, EDA
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| Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
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| Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P.
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| Eur J Hum Genet 9(5):355-63. 2001
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| 26 | 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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| 27 | ED1, FURIN, EDA
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| Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
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| Chen Y, Molloy SS, Thomas L, Gambee J, Bachinger HP, Ferguson B, Zonana J, Thomas G, Morris NP.
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| Proc Natl Acad Sci U S A 98(13):7218-23. 2001
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| 28 | 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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| 29 | 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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| 30 | ED1, EDA
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| Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.
|
| Ezer S, et al.
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| Hum Mol Genet 8(11):2079-86 1999
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| 31 | EDA
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| Functional characterization of the promoter of the X-linked ectodermal dysplasia gene.
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| Pengue G, Srivastava AK, Kere J, Schlessinger D, Durmowicz MC.
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| J Biol Chem 274(37):26477-84 1999
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| 32 | ED1, EDA
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| Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
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| Monreal AW, Zonana J, Ferguson B.
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| Am J Hum Genet 63 : 380-389. 1998
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| 33 | ED1, EDA
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| The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
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| Bayes M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J.
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| Hum Mol Genet 7 : 1661-1669. 1998
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| 34 | EDA
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| The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
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| Bayés M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J.
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| Hum Mol Genet 7(11):1661-9.PMID: 9736768 1998
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| 35 | ED1, EDA
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| Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding.
|
| Ezer S, Schlessinger D, Srivastava A, Kere J.
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| Hum Mol Genet 6(9):1581-7. 1997
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| 36 | ED1, EDA
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| The tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.
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| Srivastava AK, Pispa J, Hartung AJ, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola ML, Ko MS, Thesleff I, Kere J, Schlessinger D.
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| Proc Natl Acad Sci U S A 94(24):13069-74. 1997
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| 37 | EDA
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| Fine mapping of the EDA gene : a translocation breakpoint is associated with a CpG Island that is transcribed.
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| Srivastava AK, Montonen O, Saarialho-Kere U, Chen E, Baybayan P, Pispa J, Limon J, Schlessinger D, Kere J.
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| Am J Hum Genet 58 : 126-132. 1996
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| 38 | ED1, EDA
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| X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
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| Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D.
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| Nat Genet 13 : 409-416. 1996
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| 39 | EDA, MSX1
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| Two genes for missing teeth.
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| Thesleff I.
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| Nat Genet 13 : 379-380. 1996
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| 40 | ED1, EDA
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| Detection of De novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
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| Zonana J, Jones M, Clarke A, Gault J, Muller B, Thomas NS.
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| J Med Genet 31 : 287-292. 1994
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| 41 | ED1, EDA
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| Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes.
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| Kere J, Grzeschik KH, Limon J, Gremaud M, Schlessinger D, de la Chapelle A.
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| Genomics 16 : 305-310. 1993
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| 42 | ED1, EDA
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| Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).
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| Thomas NS, Chelly J, Zonana J, Davies KJ, Morgan S, Gault J, Rack KA, Buckle VJ, Brockdorff N, Clarke A, et al.
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| Hum Mol Genet 2 : 1679-1685. 1993
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| 43 | ED1, EDA
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| Isolation of a candidate gene for the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.
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| Gault J, et al.
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| Am J Hum Genet 51 : A21. 1992
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| 44 | ED1, EDA
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| Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.
|
| Plougastel B, et al.
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| Genomics 14 : 523-525. 1992
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| 45 | ED1, EDA
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| High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.
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| Zonana J, Jones M, Browne D, Litt M, Kramer P, Becker HW, Brockdorff N, Rastan S, Davies KP, Clarke A, et al.
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| Am J Hum Genet 51 : 1036-1046. 1992
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| 46 | ED1, EDA
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| X-linked anhidrotic ectodermal dysplasia and de novo t(X.1) in a female.
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| Limon J, Filipiuk J, Nedoszytko B, Mrozek K, Castren M, Larramendy M, Roszkiewicz J.
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| Hum Genet 87 : 338-340. 1991
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| 47 | ED1, EDA
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| Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.
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| MacDermot KD, Hulten M.
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| Hum Genet 84 : 577-579. 1990
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| 48 | ED1, EDA
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| Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.
|
| Goodship J, et al.
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| J Med Genet 27 : 422-425. 1990
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| 49 | ED1, EDA
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| X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.
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| Turleau C, Niaudet P, Cabanis MO, Plessis G, Cau D, de Grouchy J.
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| Clin Genet 35 : 462-466. 1989
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| 50 | ED1, DXS159, EDA
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| Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.
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| Hanauer A, Alembik Y, Arveiler B, Formiga L, Gilgenkrantz S, Mandel JL.
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| Hum Genet 80 : 177-180. 1988
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| 51 | ED1, EDA
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| Recognition and reanalysis of a cell line from a manisfesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation.
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| Zonana J, Roberts SH, Thomas NS, Harper PS.
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| J Med Genet 25 : 383-386. 1988
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| 52 | ED1, DXYS2X, DXYS2Y, DXS72, EDA
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| X-linked hypohidrotic ectodermal dysplasia : localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis.
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| Zonana J, Clarke A, Sarfarazi M, Thomas NS, Roberts K, Marymee K, Harper PS.
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| Am J Hum Genet 43 : 75-85. 1988
|
| 53 | EDA
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| X-linked anhidrotic ectodermal dysplasia (EDA). Two point and multipointlinkage analysis using 7 polymorphic DNA markers.
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| MacDermot KD, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 653. 1987
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| 54 | ED1, EDA
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| Regional localization of X-linked hypohidrotic ectodermal dysplasia (EDA).
|
| Clarke A, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 594. 1987
|
| 55 | EDA, DXS146
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| Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.
|
| Kolvraa S, Kruse TA, Jensen PK, Linde KH, Vestergaard SR, Bolund L.
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| Hum Genet 74 : 284-287. 1986
|
| 56 | ED1, EDA
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| Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).
|
| MacDermot KD, Winter RM, Malcolm S.
|
| Hum Genet 74 : 172-173. 1986
|