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7. A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia. Cañueto J; Zafra-Cobo MI; Ciria S; Unamuno P; González-Sarmiento R Actas Dermosifiliogr; 2011 Nov; 102(9):722-5. PubMed ID: 21696697 [TBL] [Abstract][Full Text] [Related]
8. A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. Drögemüller C; Peters M; Pohlenz J; Distl O; Leeb T J Mol Med (Berl); 2002 May; 80(5):319-23. PubMed ID: 12021844 [TBL] [Abstract][Full Text] [Related]
9. Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). Nikopensius T; Annilo T; Jagomägi T; Gilissen C; Kals M; Krjutškov K; Mägi R; Eelmets M; Gerst-Talas U; Remm M; Saag M; Hoischen A; Metspalu A J Dent Res; 2013 Jun; 92(6):507-11. PubMed ID: 23603338 [TBL] [Abstract][Full Text] [Related]
10. A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. Waluk DP; Zur G; Kaufmann R; Welle MM; Jagannathan V; Drögemüller C; Müller EJ; Leeb T; Galichet A G3 (Bethesda); 2016 Sep; 6(9):2949-54. PubMed ID: 27449516 [TBL] [Abstract][Full Text] [Related]
11. A Missense Mutation in the Collagen Triple Helix of Reinartz S; Weiß C; Heppelmann M; Hewicker-Trautwein M; Hellige M; Willen L; Feige K; Schneider P; Distl O Genes (Basel); 2023 Dec; 15(1):. PubMed ID: 38275590 [TBL] [Abstract][Full Text] [Related]
12. Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. Karlskov-Mortensen P; Cirera S; Nielsen OL; Arnbjerg J; Reibel J; Fredholm M; Agerholm JS Anim Genet; 2011 Dec; 42(6):578-84. PubMed ID: 22034998 [TBL] [Abstract][Full Text] [Related]
13. A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia. Capuzzello G; Jacinto JGP; Häfliger IM; Chapman GE; Martin SS; Viora L; Jonsson NN; Drögemüller C Acta Vet Scand; 2022 Sep; 64(1):23. PubMed ID: 36068608 [TBL] [Abstract][Full Text] [Related]
14. X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. Visinoni AF; de Souza RL; Freire-Maia N; Gollop TR; Chautard-Freire-Maia EA Am J Med Genet A; 2003 Sep; 122A(1):51-5. PubMed ID: 12949972 [TBL] [Abstract][Full Text] [Related]
15. 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 WH Am J Med Genet; 2001 May; 100(3):191-7. PubMed ID: 11343303 [TBL] [Abstract][Full Text] [Related]
17. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Casal ML; Lewis JR; Mauldin EA; Tardivel A; Ingold K; Favre M; Paradies F; Demotz S; Gaide O; Schneider P Am J Hum Genet; 2007 Nov; 81(5):1050-6. PubMed ID: 17924345 [TBL] [Abstract][Full Text] [Related]
18. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Cui CY; Hashimoto T; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D Proc Natl Acad Sci U S A; 2006 Jun; 103(24):9142-7. PubMed ID: 16738056 [TBL] [Abstract][Full Text] [Related]
19. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Pääkkönen K; Cambiaghi S; Novelli G; Ouzts LV; Penttinen M; Kere J; Srivastava AK Hum Mutat; 2001 Apr; 17(4):349. PubMed ID: 11295832 [TBL] [Abstract][Full Text] [Related]
20. Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants. Yu K; Huang C; Wan F; Jiang C; Chen J; Li X; Wang F; Wu J; Lei M; Wu Y Nat Commun; 2023 Feb; 14(1):767. PubMed ID: 36765055 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]