EDNRB Gene

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Li, V. EDNRB Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5273 (accessed on 21 September 2026).

Li V. EDNRB Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5273. Accessed September 21, 2026.

Li, Vivi. "EDNRB Gene" Encyclopedia, https://encyclopedia.pub/entry/5273 (accessed September 21, 2026).

Li, V. (2020, December 24). EDNRB Gene. In Encyclopedia. https://encyclopedia.pub/entry/5273

Li, Vivi. "EDNRB Gene." Encyclopedia. Web. 24 December, 2020.

EDNRB Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/ednrb

Endothelin receptor type B: The EDNRB gene provides instructions for making a protein called endothelin receptor type B.

genes

References

Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, SimeoniJ, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Heterozygous endothelinreceptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet.1996 Mar;5(3):355-7.
Barlow A, de Graaff E, Pachnis V. Enteric nervous system progenitors arecoordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron. 2003 Dec 4;40(5):905-16.
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.
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.
Pla P, Larue L. Involvement of endothelin receptors in normal and pathologicaldevelopment of neural crest cells. Int J Dev Biol. 2003 Jun;47(5):315-25. Review.
Soufir N, Meziani R, Lacapère JJ, Bertrand G, Fumeron F, Bourillon A, GérardB, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Lebbe C, Basset-Seguin N,Saiag P, Grandchamp B; Investigators of the Melan-Cohort. Association betweenendothelin receptor B nonsynonymous variants and melanoma risk. J Natl CancerInst. 2005 Sep 7;97(17):1297-301.
Spica T, Fargnoli MC, Hetet G, Bertrand G, Formicone F, Descamps V,Wolkenstein P, Dupin N, Lebbe C, Basset-Seguin N, Saiag P, Cambien F, Grandchamp B, Peris K, Soufir N. EDNRB gene variants and melanoma risk in two southernEuropean populations. Clin Exp Dermatol. 2011 Oct;36(7):782-7. doi:10.1111/j.1365-2230.2011.04062.x.
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.
Thirumaran RK, Thoelke A, Ugurel S, Hemminki K, Schadendorf D, Kumar R. Re:Association between endothelin receptor B nonsynonymous variants and melanomarisk. J Natl Cancer Inst. 2006 Sep 6;98(17):1252-3; author reply 1253.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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