These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

172 related items for PubMed ID: 12915470

  • 21. Disturbances of colonic motility in mouse models of Hirschsprung's disease.
    Roberts RR, Bornstein JC, Bergner AJ, Young HM.
    Am J Physiol Gastrointest Liver Physiol; 2008 Apr; 294(4):G996-G1008. PubMed ID: 18276829
    [Abstract] [Full Text] [Related]

  • 22. Enhanced binding to the molecular chaperone BiP slows thyroglobulin export from the endoplasmic reticulum.
    Muresan Z, Arvan P.
    Mol Endocrinol; 1998 Mar; 12(3):458-67. PubMed ID: 9514162
    [Abstract] [Full Text] [Related]

  • 23. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.
    Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A.
    Genomics; 1998 Mar 15; 48(3):354-62. PubMed ID: 9545641
    [Abstract] [Full Text] [Related]

  • 24. Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.
    Hyndman BD, Gujral TS, Krieger JR, Cockburn JG, Mulligan LM.
    Hum Mutat; 2013 Jan 15; 34(1):132-42. PubMed ID: 22837065
    [Abstract] [Full Text] [Related]

  • 25. The soluble ectodomain of RetC634Y inhibits both the wild-type and the constitutively active Ret.
    Cerchia L, Libri D, Carlomagno MS, de Franciscis V.
    Biochem J; 2003 Jun 15; 372(Pt 3):897-903. PubMed ID: 12630912
    [Abstract] [Full Text] [Related]

  • 26. Mice expressing a dominant-negative Ret mutation phenocopy human Hirschsprung disease and delineate a direct role of Ret in spermatogenesis.
    Jain S, Naughton CK, Yang M, Strickland A, Vij K, Encinas M, Golden J, Gupta A, Heuckeroth R, Johnson EM, Milbrandt J.
    Development; 2004 Nov 15; 131(21):5503-13. PubMed ID: 15469971
    [Abstract] [Full Text] [Related]

  • 27. [Molecular basis of Hirschsprung disease].
    Inoue M, Okada A.
    Nihon Rinsho; 1998 Jan 15; 56(1):249-57. PubMed ID: 9465697
    [Abstract] [Full Text] [Related]

  • 28. The RET receptor: function in development and dysfunction in congenital malformation.
    Manié S, Santoro M, Fusco A, Billaud M.
    Trends Genet; 2001 Oct 15; 17(10):580-9. PubMed ID: 11585664
    [Abstract] [Full Text] [Related]

  • 29. Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).
    Svensson PJ, Anvret M, Molander ML, Nordenskjöld A.
    Hum Genet; 1998 Aug 15; 103(2):145-8. PubMed ID: 9760196
    [Abstract] [Full Text] [Related]

  • 30. GDNF deficit in Hirschsprung's disease.
    Martucciello G, Thompson H, Mazzola C, Morando A, Bertagnon M, Negri F, Brizzolara A, Rocchetti L, Gambini C, Jasonni V.
    J Pediatr Surg; 1998 Jan 15; 33(1):99-102. PubMed ID: 9473110
    [Abstract] [Full Text] [Related]

  • 31. Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism.
    Cosma MP, Cardone M, Carlomagno F, Colantuoni V.
    Mol Cell Biol; 1998 Jun 15; 18(6):3321-9. PubMed ID: 9584172
    [Abstract] [Full Text] [Related]

  • 32. Defects in the calcium-binding region drastically affect the cadherin-like domains of RET tyrosine kinase.
    Gao C, Grøtli M, Eriksson LA.
    Phys Chem Chem Phys; 2016 Mar 28; 18(12):8673-81. PubMed ID: 26950000
    [Abstract] [Full Text] [Related]

  • 33. 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 28; 36(3):217-20. PubMed ID: 10204848
    [Abstract] [Full Text] [Related]

  • 34. In vivo expression of mammalian BiP ATPase mutants causes disruption of the endoplasmic reticulum.
    Hendershot LM, Wei JY, Gaut JR, Lawson B, Freiden PJ, Murti KG.
    Mol Biol Cell; 1995 Mar 28; 6(3):283-96. PubMed ID: 7612964
    [Abstract] [Full Text] [Related]

  • 35. Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.
    Kashuk CS, Stone EA, Grice EA, Portnoy ME, Green ED, Sidow A, Chakravarti A, McCallion AS.
    Proc Natl Acad Sci U S A; 2005 Jun 21; 102(25):8949-54. PubMed ID: 15956201
    [Abstract] [Full Text] [Related]

  • 36. Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations.
    Kjaer S, Hanrahan S, Totty N, McDonald NQ.
    Nat Struct Mol Biol; 2010 Jun 21; 17(6):726-31. PubMed ID: 20473317
    [Abstract] [Full Text] [Related]

  • 37. Hirschsprung disease is linked to defects in neural crest stem cell function.
    Iwashita T, Kruger GM, Pardal R, Kiel MJ, Morrison SJ.
    Science; 2003 Aug 15; 301(5635):972-6. PubMed ID: 12920301
    [Abstract] [Full Text] [Related]

  • 38. BiP and immunoglobulin light chain cooperate to control the folding of heavy chain and ensure the fidelity of immunoglobulin assembly.
    Lee YK, Brewer JW, Hellman R, Hendershot LM.
    Mol Biol Cell; 1999 Jul 15; 10(7):2209-19. PubMed ID: 10397760
    [Abstract] [Full Text] [Related]

  • 39. RET receptor tyrosine kinase gene mutations: molecular biological, physiological and clinical aspects.
    Höppener JW, Lips CJ.
    Eur J Clin Invest; 1996 Aug 15; 26(8):613-24. PubMed ID: 8872055
    [No Abstract] [Full Text] [Related]

  • 40. Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease.
    Lui VC, Leon TY, Garcia-Barceló MM, Ganster RW, Chen BL, Hutson JM, Tam PK.
    Clin Chem; 2005 Aug 15; 51(8):1552-4. PubMed ID: 16040858
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 9.