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175 related items for PubMed ID: 26923755

  • 1. 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. PubMed ID: 26923755
    [Abstract] [Full Text] [Related]

  • 2. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
    Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH.
    Nat Genet; 1996 Apr 29; 12(4):445-7. PubMed ID: 8630503
    [Abstract] [Full Text] [Related]

  • 3. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.
    Cantrell VA, Owens SE, Chandler RL, Airey DC, Bradley KM, Smith JR, Southard-Smith EM.
    Hum Mol Genet; 2004 Oct 01; 13(19):2289-301. PubMed ID: 15294878
    [Abstract] [Full Text] [Related]

  • 4. B-lymphocyte-intrinsic and -extrinsic defects in secretory immunoglobulin A production in the neural crest-conditional deletion of endothelin receptor B model of Hirschsprung-associated enterocolitis.
    Medrano G, Cailleux F, Guan P, Kuruvilla K, Barlow-Anacker AJ, Gosain A.
    FASEB J; 2019 Jun 01; 33(6):7615-7624. PubMed ID: 30908942
    [Abstract] [Full Text] [Related]

  • 5. A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats.
    Kunieda T, Kumagai T, Tsuji T, Ozaki T, Karaki H, Ikadai H.
    DNA Res; 1996 Apr 30; 3(2):101-5. PubMed ID: 8804863
    [Abstract] [Full Text] [Related]

  • 6. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice.
    Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, Giaid A, Yanagisawa M.
    Cell; 1994 Dec 30; 79(7):1267-76. PubMed ID: 8001159
    [Abstract] [Full Text] [Related]

  • 7. 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 Dec 30; 6(11):e27902. PubMed ID: 22132166
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.
    Kusafuka T, Wang Y, Puri P.
    Hum Mol Genet; 1996 Mar 30; 5(3):347-9. PubMed ID: 8852658
    [Abstract] [Full Text] [Related]

  • 9. A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.
    Chen WC, Chang SS, Sy ED, Tsai MC.
    J Formos Med Assoc; 2006 Apr 30; 105(4):349-54. PubMed ID: 16618617
    [Abstract] [Full Text] [Related]

  • 10. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
    Matsushima Y, Shinkai Y, Kobayashi Y, Sakamoto M, Kunieda T, Tachibana M.
    Mamm Genome; 2002 Jan 30; 13(1):30-5. PubMed ID: 11773966
    [Abstract] [Full Text] [Related]

  • 11. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease.
    Metallinos DL, Bowling AT, Rine J.
    Mamm Genome; 1998 Jun 30; 9(6):426-31. PubMed ID: 9585428
    [Abstract] [Full Text] [Related]

  • 12. Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
    Lin YC, Lai HS, Hsu WM, Lee PI, Chen HL, Chang MH.
    J Pediatr Gastroenterol Nutr; 2008 Jan 30; 46(1):36-40. PubMed ID: 18162831
    [Abstract] [Full Text] [Related]

  • 13. Gli family zinc finger 1 is associated with endothelin receptor type B in Hirschsprung disease.
    Liu W, Pan J, Gao J, Shuai X, Tang S, Wang G, Tao K, Wu C.
    Mol Med Rep; 2018 Apr 30; 17(4):5844-5850. PubMed ID: 29484400
    [Abstract] [Full Text] [Related]

  • 14. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.
    Auricchio A, Casari G, Staiano A, Ballabio A.
    Hum Mol Genet; 1996 Mar 30; 5(3):351-4. PubMed ID: 8852659
    [Abstract] [Full Text] [Related]

  • 15. Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease.
    Pingault V, Puliti A, Préhu MO, Samadi A, Bondurand N, Goossens M.
    Genomics; 1997 Jan 01; 39(1):86-9. PubMed ID: 9027489
    [Abstract] [Full Text] [Related]

  • 16. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
    Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A.
    Cell; 1994 Dec 30; 79(7):1257-66. PubMed ID: 8001158
    [Abstract] [Full Text] [Related]

  • 17. Identification of genetic loci affecting the severity of symptoms of Hirschsprung disease in rats carrying Ednrbsl mutations by quantitative trait locus analysis.
    Huang J, Dang R, Torigoe D, Lei C, Lan X, Chen H, Sasaki N, Wang J, Agui T.
    PLoS One; 2015 Dec 30; 10(3):e0122068. PubMed ID: 25790447
    [Abstract] [Full Text] [Related]

  • 18. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
    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.
    Hum Mol Genet; 1996 Mar 30; 5(3):355-7. PubMed ID: 8852660
    [Abstract] [Full Text] [Related]

  • 19. Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.
    Gariepy CE, Cass DT, Yanagisawa M.
    Proc Natl Acad Sci U S A; 1996 Jan 23; 93(2):867-72. PubMed ID: 8570650
    [Abstract] [Full Text] [Related]

  • 20. Enterocolitis causes profound lymphoid depletion in endothelin receptor B- and endothelin 3-null mouse models of Hirschsprung-associated enterocolitis.
    Frykman PK, Cheng Z, Wang X, Dhall D.
    Eur J Immunol; 2015 Mar 23; 45(3):807-17. PubMed ID: 25487064
    [Abstract] [Full Text] [Related]

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