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Items: 19


Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line.

Chen B, Ouyang HL, Wang WH, Yin YH, Yan LN, Yang B, Xue ZF.

Exp Anim. 2016 Jul 29;65(3):245-51. doi: 10.1538/expanim.15-0110. Epub 2016 Feb 29.


Endothelin signalling in iridophore development and stripe pattern formation of zebrafish.

Krauss J, Frohnhöfer HG, Walderich B, Maischein HM, Weiler C, Irion U, Nüsslein-Volhard C.

Biol Open. 2014 May 23;3(6):503-9. doi: 10.1242/bio.20148441.


Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

Cui L, Wong EH, Cheng G, Firmato de Almeida M, So MT, Sham PC, Cherny SS, Tam PK, Garcia-Barceló MM.

PLoS One. 2013 Jun 26;8(6):e66631. doi: 10.1371/journal.pone.0066631. Print 2013.


QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.

Dang R, Torigoe D, Sasaki N, Agui T.

PLoS One. 2011;6(11):e27902. doi: 10.1371/journal.pone.0027902. Epub 2011 Nov 22.


Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.

Dang R, Torigoe D, Suzuki S, Kikkawa Y, Moritoh K, Sasaki N, Agui T.

PLoS One. 2011;6(9):e24086. doi: 10.1371/journal.pone.0024086. Epub 2011 Sep 7. Erratum in: PLoS One. 2011;6(10). doi:10.1371/annotation/2ffb2981-5f3f-45b5-a6e1-ae32d92b4993.


Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.

Walters LC, Cantrell VA, Weller KP, Mosher JT, Southard-Smith EM.

Hum Mol Genet. 2010 Nov 15;19(22):4353-72. doi: 10.1093/hmg/ddq357. Epub 2010 Aug 25.


Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion disease.

Clarke CM, Plata C, Cole B, Tsuchiya K, La Spada AR, Kapur RP.

Gastroenterology. 2007 Dec;133(6):1971-8. Epub 2007 Aug 21.


Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia.

Tou JF, Li MJ, Guan T, Li JC, Zhu XK, Feng ZG.

World J Gastroenterol. 2006 Feb 21;12(7):1136-9.


Biphasic expression of two paracrine melanogenic cytokines, stem cell factor and endothelin-1, in ultraviolet B-induced human melanogenesis.

Hachiya A, Kobayashi A, Yoshida Y, Kitahara T, Takema Y, Imokawa G.

Am J Pathol. 2004 Dec;165(6):2099-109.


Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.

McCallion AS, Stames E, Conlon RA, Chakravarti A.

Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1826-31. Epub 2003 Feb 6.


A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C.

Am J Hum Genet. 2003 Jan;72(1):88-100. Epub 2002 Dec 9.


Hirschsprung disease, associated syndromes, and genetics: a review.

Amiel J, Lyonnet S.

J Med Genet. 2001 Nov;38(11):729-39. Review.


SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.

Sham MH, Lui VC, Fu M, Chen B, Tam PK.

Gut. 2001 Aug;49(2):220-6.


RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C.

J Med Genet. 2000 Aug;37(8):572-8.


Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

Myers SM, Salomon R, Goessling A, Pelet A, Eng C, von Deimling A, Lyonnet S, Mulligan LM.

J Med Genet. 1999 Mar;36(3):217-20.


Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease.

Gariepy CE, Williams SC, Richardson JA, Hammer RE, Yanagisawa M.

J Clin Invest. 1998 Sep 15;102(6):1092-101.


Molecular characterization of four induced alleles at the Ednrb locus.

Shin MK, Russell LB, Tilghman SM.

Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13105-10.


Waardenburg syndrome.

Read AP, Newton VE.

J Med Genet. 1997 Aug;34(8):656-65. Review.

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