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Hirschsprung Disease

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Disease relevance of Hirschsprung Disease


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Biological context of Hirschsprung Disease


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Gene context of Hirschsprung Disease


Analytical, diagnostic and therapeutic context of Hirschsprung Disease


  1. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. Eng, C. N. Engl. J. Med. (1996) [Pubmed]
  2. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Pingault, V., Bondurand, N., Kuhlbrodt, K., Goerich, D.E., Préhu, M.O., Puliti, A., Herbarth, B., Hermans-Borgmeyer, I., Legius, E., Matthijs, G., Amiel, J., Lyonnet, S., Ceccherini, I., Romeo, G., Smith, J.C., Read, A.P., Wegner, M., Goossens, M. Nat. Genet. (1998) [Pubmed]
  3. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Herbarth, B., Pingault, V., Bondurand, N., Kuhlbrodt, K., Hermans-Borgmeyer, I., Puliti, A., Lemort, N., Goossens, M., Wegner, M. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  4. Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism. Cosma, M.P., Cardone, M., Carlomagno, F., Colantuoni, V. Mol. Cell. Biol. (1998) [Pubmed]
  5. Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Maris, J.M., Kyemba, S.M., Rebbeck, T.R., White, P.S., Sulman, E.P., Jensen, S.J., Allen, C., Biegel, J.A., Yanofsky, R.A., Feldman, G.L., Brodeur, G.M. Cancer Res. (1996) [Pubmed]
  6. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). Brooks, A.S., Breuning, M.H., Osinga, J., vd Smagt, J.J., Catsman, C.E., Buys, C.H., Meijers, C., Hofstra, R.M. J. Med. Genet. (1999) [Pubmed]
  7. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Carrasquillo, M.M., McCallion, A.S., Puffenberger, E.G., Kashuk, C.S., Nouri, N., Chakravarti, A. Nat. Genet. (2002) [Pubmed]
  8. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Wakamatsu, N., Yamada, Y., Yamada, K., Ono, T., Nomura, N., Taniguchi, H., Kitoh, H., Mutoh, N., Yamanaka, T., Mushiake, K., Kato, K., Sonta , S., Nagaya, M. Nat. Genet. (2001) [Pubmed]
  9. Vitamin A controls epithelial/mesenchymal interactions through Ret expression. Batourina, E., Gim, S., Bello, N., Shy, M., Clagett-Dame, M., Srinivas, S., Costantini, F., Mendelsohn, C. Nat. Genet. (2001) [Pubmed]
  10. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Hofstra, R.M., Osinga, J., Tan-Sindhunata, G., Wu, Y., Kamsteeg, E.J., Stulp, R.P., van Ravenswaaij-Arts, C., Majoor-Krakauer, D., Angrist, M., Chakravarti, A., Meijers, C., Buys, C.H. Nat. Genet. (1996) [Pubmed]
  11. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Salomon, R., Attié, T., Pelet, A., Bidaud, C., Eng, C., Amiel, J., Sarnacki, S., Goulet, O., Ricour, C., Nihoul-Fékété, C., Munnich, A., Lyonnet, S. Nat. Genet. (1996) [Pubmed]
  12. Qualitative and quantitative analysis of muscarinic acetylcholine receptors in the piebald lethal mouse model of Hirschsprung's disease. Ueki, S., Okamoto, E., Kuwata, K., Toyosaka, A., Nagai, K. Gastroenterology (1985) [Pubmed]
  13. Nitric oxide synthase distribution in the enteric nervous system of Hirschsprung's disease. Vanderwinden, J.M., De Laet, M.H., Schiffmann, S.N., Mailleux, P., Lowenstein, C.J., Snyder, S.H., Vanderhaeghen, J.J. Gastroenterology (1993) [Pubmed]
  14. Intracolonic formation of struvite crystals in a patient with congenital megacolon. Patterson, D.J., Alpert, E. Gastroenterology (1982) [Pubmed]
  15. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Hosoda, K., Hammer, R.E., Richardson, J.A., Baynash, A.G., Cheung, J.C., Giaid, A., Yanagisawa, M. Cell (1994) [Pubmed]
  16. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., Kääriäinen, H. Nature (1994) [Pubmed]
  17. Abnormalities in the distribution of laminin and collagen type IV in Hirschsprung's disease. Parikh, D.H., Tam, P.K., Van Velzen, D., Edgar, D. Gastroenterology (1992) [Pubmed]
  18. Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. McCallion, A.S., Stames, E., Conlon, R.A., Chakravarti, A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  19. Docking protein FRS2 links the protein tyrosine kinase RET and its oncogenic forms with the mitogen-activated protein kinase signaling cascade. Melillo, R.M., Santoro, M., Ong, S.H., Billaud, M., Fusco, A., Hadari, Y.R., Schlessinger, J., Lax, I. Mol. Cell. Biol. (2001) [Pubmed]
  20. Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease. Paratore, C., Eichenberger, C., Suter, U., Sommer, L. Hum. Mol. Genet. (2002) [Pubmed]
  21. Increased smooth muscle contractility of intestine in the genetic null of the endothelin ETB receptor: a rat model for long segment Hirschsprung's disease. Won, K.J., Torihashi, S., Mitsui-Saito, M., Hori, M., Sato, K., Suzuki, T., Ozaki, H., Karaki, H. Gut (2002) [Pubmed]
  22. Isolation and characterization of a chicken homolog of the c-ret proto-oncogene. Schuchardt, A., Srinivas, S., Pachnis, V., Costantini, F. Oncogene (1995) [Pubmed]
  23. Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease. Vanhorne, J.B., Gimm, O., Myers, S.M., Kaushik, A., von Deimling, A., Eng, C., Mulligan, L.M. Hum. Genet. (2001) [Pubmed]
  24. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Baynash, A.G., Hosoda, K., Giaid, A., Richardson, J.A., Emoto, N., Hammer, R.E., Yanagisawa, M. Cell (1994) [Pubmed]
  25. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Angrist, M., Bolk, S., Halushka, M., Lapchak, P.A., Chakravarti, A. Nat. Genet. (1996) [Pubmed]
  26. Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. Yamada, K., Yamada, Y., Nomura, N., Miura, K., Wakako, R., Hayakawa, C., Matsumoto, A., Kumagai, T., Yoshimura, I., Miyazaki, S., Kato, K., Sonta, S., Ono, H., Yamanaka, T., Nagaya, M., Wakamatsu, N. Am. J. Hum. Genet. (2001) [Pubmed]
  27. Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome. Van de Putte, T., Maruhashi, M., Francis, A., Nelles, L., Kondoh, H., Huylebroeck, D., Higashi, Y. Am. J. Hum. Genet. (2003) [Pubmed]
  28. Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site. Geneste, O., Bidaud, C., De Vita, G., Hofstra, R.M., Tartare-Deckert, S., Buys, C.H., Lenoir, G.M., Santoro, M., Billaud, M. Hum. Mol. Genet. (1999) [Pubmed]
  29. Glial-derived neurotrophic factor in human adult and fetal intestine and in Hirschsprung's disease. Bär, K.J., Facer, P., Williams, N.S., Tam, P.K., Anand, P. Gastroenterology (1997) [Pubmed]
  30. Oncological implications of RET gene mutations in Hirschsprung's disease. Sijmons, R.H., Hofstra, R.M., Wijburg, F.A., Links, T.P., Zwierstra, R.P., Vermey, A., Aronson, D.C., Tan-Sindhunata, G., Brouwers-Smalbraak, G.J., Maas, S.M., Buys, C.H. Gut (1998) [Pubmed]
  31. Manometry and histochemistry in the diagnosis of Hirschsprung's disease. Morikawa, Y., Donahoe, P.K., Hendren, W.H. Pediatrics (1979) [Pubmed]
  32. A novel neuropeptide, pituitary adenylate cyclase-activating polypeptide (PACAP), in human intestine: evidence for reduced content in Hirschsprung's disease. Shen, Z., Larsson, L.T., Malmfors, G., Absood, A., Håkanson, R., Sundler, F. Cell Tissue Res. (1992) [Pubmed]
  33. Abnormal endothelin B receptor vasomotor responses in patients with Hirschsprung's disease. Newby, D.E., Strachan, F.E., Webb, D.J. QJM : monthly journal of the Association of Physicians. (2002) [Pubmed]
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