Endothelin 3: The EDN3 gene provides instructions for making a protein called endothelin 3.
genes
References
Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, YanagisawaM. Interaction of endothelin-3 with endothelin-B receptor is essential fordevelopment of epidermal melanocytes and enteric neurons. Cell. 1994 Dec30;79(7):1277-85.
Duan XL, Zhang XS, Li GW. Clinical relationship between EDN-3 gene, EDNRB geneand Hirschsprung's disease. World J Gastroenterol. 2003 Dec;9(12):2839-42.
Gazquez E, Watanabe Y, Broders-Bondon F, Paul-Gilloteaux P, Heysch J, Baral V,Bondurand N, Dufour S. Endothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis. Sci Rep. 2016 Dec1;6:37877. doi: 10.1038/srep37877.
Heuckeroth RO. Finding your way to the end: a tale of GDNF and endothelin-3.Neuron. 2003 Dec 4;40(5):871-3. Review.
Kapur RP, Gershon MD, Milla PJ, Pachnis V. The influence of Hox genes andthree intercellular signalling pathways on enteric neuromuscular development.Neurogastroenterol Motil. 2004 Apr;16 Suppl 1:8-13. Review.
Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, JoukPS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations onneurocristopathy phenotypes? J Med Genet. 2001 Mar;38(3):205-9.
Shin MK, Levorse JM, Ingram RS, Tilghman SM. The temporal requirement forendothelin receptor-B signalling during neural crest development. Nature. 1999Dec 2;402(6761):496-501.
Svensson PJ, Von Tell D, Molander ML, Anvret M, Nordenskjöld A. A heterozygousframeshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung'sdisease. Pediatr Res. 1999 May;45(5 Pt 1):714-7.
Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. Newroles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med.2010 Jan;12(1):39-43. doi: 10.1097/GIM.0b013e3181c371b0.
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