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References

These sources were used to develop the Genetics Home Reference gene summary on the EDNRB gene.

Abe Y, Sakurai T, Yamada T, Nakamura T, Yanagisawa M, Goto K. Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients. Biochem Biophys Res Commun. 2000 Aug 28;275(2):524-31. PubMed citation
Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):355-7. PubMed citation
Barlow A, de Graaff E, Pachnis V. Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron. 2003 Dec 4;40(5):905-16. PubMed citation
Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994 Dec 30;79(7):1277-85. PubMed citation
Duan XL, Zhang XS, Li GW. Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease. World J Gastroenterol. 2003 Dec;9(12):2839-42. PubMed citation
Entrez Gene
Heuckeroth RO. Finding your way to the end: a tale of GDNF and endothelin-3. Neuron. 2003 Dec 4;40(5):871-3. Review. PubMed citation
Kapur RP, Gershon MD, Milla PJ, Pachnis V. The influence of Hox genes and three intercellular signalling pathways on enteric neuromuscular development. Neurogastroenterol Motil. 2004 Apr;16 Suppl 1:8-13. Review. PubMed citation
Kruger GM, Mosher JT, Tsai YH, Yeager KJ, Iwashita T, Gariepy CE, Morrison SJ. Temporally distinct requirements for endothelin receptor B in the generation and migration of gut neural crest stem cells. Neuron. 2003 Dec 4;40(5):917-29. PubMed citation
Lahav R, Suvà ML, Rimoldi D, Patterson PH, Stamenkovic I. Endothelin receptor B inhibition triggers apoptosis and enhances angiogenesis in melanomas. Cancer Res. 2004 Dec 15;64(24):8945-53. PubMed citation
OMIM: ENDOTHELIN RECEPTOR, TYPE B
Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? J Med Genet. 2001 Mar;38(3):205-9. PubMed citation
Pla P, Larue L. Involvement of endothelin receptors in normal and pathological development of neural crest cells. Int J Dev Biol. 2003 Jun;47(5):315-25. Review. PubMed citation
Soufir N, Meziani R, Lacapère JJ, Bertrand G, Fumeron F, Bourillon A, Gérard B, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Lebbe C, Basset-Seguin N, Saiag P, Grandchamp B; Investigators of the Melan-Cohort. Association between endothelin receptor B nonsynonymous variants and melanoma risk. J Natl Cancer Inst. 2005 Sep 7;97(17):1297-301. PubMed citation