| 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 | 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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| 3 | 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, Maničre MC, Schmittbuhl M.
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| Clin Genet 78(3):257-66. Epub 2010 Feb 24.
2010
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| 4 | 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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| 5 | 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, Maničre MC, Schmittbuhl M.
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| Front Oral Biol 13:93-9. Epub 2009 Sep 21.PMID: 19828977 2009
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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | ED1, EDA
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| Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding.
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| Ezer S, Schlessinger D, Srivastava A, Kere J.
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| Hum Mol Genet 6(9):1581-7. 1997
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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | 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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| 24 | 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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| 25 | 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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| 26 | ED1, EDA
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| Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.
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| Plougastel B, et al.
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| Genomics 14 : 523-525. 1992
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| 27 | 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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| 28 | 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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| 29 | 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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| 30 | 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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| 31 | 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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| 32 | 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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| 33 | 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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| 34 | 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
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| 35 | 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
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| 36 | ED1, EDA
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| Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).
|
| MacDermot KD, Winter RM, Malcolm S.
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| Hum Genet 74 : 172-173. 1986
|