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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2001-7-26
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pubmed:abstractText |
Hirschsprung's disease (HSCR) is one the most common congenital intestinal disease. It leads to aganglionic megacolon in the early childhood. Several susceptibility genes have been identified : RET protooncogene and its ligand, glial cell derived neutrophic factor (GDNF), Sox 10, Endothelin-3 (EDN3) and its receptor B (EDNRB). EDNRB mutations are found in 5% of familial or sporadic HSCR. Only few EDNRB mutations found in HSCR have been explored and some of them seem to be non fonctional variants.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1076-1551
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
115-24
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pubmed:dateRevised |
2008-11-20
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pubmed:meshHeading |
pubmed-meshheading:11471546-Amino Acid Sequence,
pubmed-meshheading:11471546-Animals,
pubmed-meshheading:11471546-CHO Cells,
pubmed-meshheading:11471546-Calcium,
pubmed-meshheading:11471546-Cell Line,
pubmed-meshheading:11471546-Cricetinae,
pubmed-meshheading:11471546-Cyclic AMP,
pubmed-meshheading:11471546-Dose-Response Relationship, Drug,
pubmed-meshheading:11471546-Hirschsprung Disease,
pubmed-meshheading:11471546-Humans,
pubmed-meshheading:11471546-Microscopy, Fluorescence,
pubmed-meshheading:11471546-Models, Biological,
pubmed-meshheading:11471546-Molecular Sequence Data,
pubmed-meshheading:11471546-Mutagenesis, Site-Directed,
pubmed-meshheading:11471546-Mutation,
pubmed-meshheading:11471546-Plasmids,
pubmed-meshheading:11471546-Protein Binding,
pubmed-meshheading:11471546-Receptor, Endothelin B,
pubmed-meshheading:11471546-Receptors, Endothelin,
pubmed-meshheading:11471546-Recombinant Proteins,
pubmed-meshheading:11471546-Sequence Homology, Amino Acid,
pubmed-meshheading:11471546-Signal Transduction,
pubmed-meshheading:11471546-Transcription Factor AP-1,
pubmed-meshheading:11471546-Transfection
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pubmed:year |
2001
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pubmed:articleTitle |
Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.
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pubmed:affiliation |
INSERM Unit 36, Collège de France, Paris.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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