| pubmed-article:11774071 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11774071 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:11774071 | lifeskim:mentions | umls-concept:C0021843 | lld:lifeskim |
| pubmed-article:11774071 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:11774071 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:11774071 | lifeskim:mentions | umls-concept:C1833334 | lld:lifeskim |
| pubmed-article:11774071 | lifeskim:mentions | umls-concept:C2936267 | lld:lifeskim |
| pubmed-article:11774071 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:11774071 | pubmed:dateCreated | 2002-1-15 | lld:pubmed |
| pubmed-article:11774071 | pubmed:abstractText | Hirschsprung disease (HSCR) is a common congenital disorder that results in intestinal obstruction and lethality, as a result of defective innervation of the gastrointestinal (GI) tract. Despite its congenital origin, the molecular etiology of HSCR remains elusive for >70% of patients. Although mutations in the c-RET receptor gene are frequently detected in patients with HSCR, mutations in the gene encoding its ligand (glial cell line-derived neurotrophic factor [GDNF]), are rarely found. In an effort to establish a possible link between human HSCR and mutations affecting the Gdnf locus, we studied a large population of mice heterozygous for a Gdnf null mutation. This Gdnf(+/-) mutant cohort recapitulates complex features characteristic of HSCR, including dominant inheritance, incomplete penetrance, and variable severity of symptoms. The lack of one functioning Gdnf allele causes a spectrum of defects in gastrointestinal motility and predisposes the mutant mice to HSCR-like phenotypes. As many as one in five Gdnf(+/-) mutant mice die shortly after birth. Using a transgenic marking strategy, we identified hypoganglionosis of the gastrointestinal tract as a developmental defect that renders the mutant mice susceptible to clinical symptoms of HSCR. Our findings offer a plausible way to link an array of seemingly disparate features characteristic of a complex disease to a much more narrowly defined genetic cause. These findings may have general implications for the genetic analysis of cause and effect in complex human diseases. | lld:pubmed |
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| pubmed-article:11774071 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11774071 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11774071 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11774071 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11774071 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11774071 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:11774071 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:11774071 | pubmed:author | pubmed-author:CuiTT | lld:pubmed |
| pubmed-article:11774071 | pubmed:author | pubmed-author:SariolaHannuH | lld:pubmed |
| pubmed-article:11774071 | pubmed:author | pubmed-author:ShenLiyaL | lld:pubmed |
| pubmed-article:11774071 | pubmed:author | pubmed-author:PichelJosé... | lld:pubmed |
| pubmed-article:11774071 | pubmed:author | pubmed-author:MayeliThomasT | lld:pubmed |
| pubmed-article:11774071 | pubmed:author | pubmed-author:WestphalHeine... | lld:pubmed |
| pubmed-article:11774071 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11774071 | pubmed:volume | 70 | lld:pubmed |
| pubmed-article:11774071 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11774071 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11774071 | pubmed:pagination | 435-47 | lld:pubmed |
| pubmed-article:11774071 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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