| RET in human development and oncogenesis. | |
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MedLine Citation:
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PMID: 9174404 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hirschsprung disease and the multiple endocrine neoplasia type 2 syndromes are hereditary disorders related to the abnormal migration, proliferation or survival of neural crest cells and their derivatives. Hirschsprung disease is a frequent disorder of the enteric nervous system, resulting in intestinal obstruction. The multiple endocrine neoplasia type 2 syndromes predispose to cancers of neural crest derivatives. Both diseases are associated with heterozygous mutations in the RET proto-oncogene. RET encodes a transmembrane receptor tyrosine kinase expressed in neural crest lineages and whose ligand, glial-cell-line-derived neurotrophic factor, has been very recently identified. In vitro expression studies demonstrate that while Hirschsprung disease mutations result in loss of function of the mutant RET tyrosine kinase, multiple endocrine neoplasia type 2 mutations lead to its constitutive activation. Thus, the two 'faces' of RET, gain of function and loss of function, each lead to a different syndrome, respectively: multiple endocrine neoplasia type 2, a cancer syndrome, or Hirschsprung disease, a developmental defect. |
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Authors:
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P Edery; C Eng; A Munnich; S Lyonnet |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: BioEssays : news and reviews in molecular, cellular and developmental biology Volume: 19 ISSN: 0265-9247 ISO Abbreviation: Bioessays Publication Date: 1997 May |
Date Detail:
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Created Date: 1997-07-18 Completed Date: 1997-07-18 Revised Date: 2012-06-04 |
Medline Journal Info:
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Nlm Unique ID: 8510851 Medline TA: Bioessays Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 389-95 Citation Subset: IM |
Affiliation:
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Service de Génétique Médicale et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Drosophila Proteins* Embryonic and Fetal Development / genetics Hirschsprung Disease / enzymology, genetics Humans Multiple Endocrine Neoplasia Type 2a / enzymology, genetics Mutation Proto-Oncogene Proteins / genetics, metabolism Proto-Oncogene Proteins c-ret Proto-Oncogenes* Receptor Protein-Tyrosine Kinases / genetics, metabolism |
| Chemical | |
Reg. No./Substance:
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0/Drosophila Proteins; 0/Proto-Oncogene Proteins; EC 2.7.10.1/Proto-Oncogene Proteins c-ret; EC 2.7.10.1/Receptor Protein-Tyrosine Kinases; EC 2.7.10.1/Ret oncogene protein, Drosophila |
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