Source:http://linkedlifedata.com/resource/pubmed/id/20009762
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2010-1-19
|
| pubmed:abstractText |
Hirschsprung disease is characterized by the absence of intramural ganglion cells in the myenteric and submucosal plexuses within distal intestine, because of a fail in the enteric nervous system formations process. Endothelin-3-endothelin receptor B signaling pathway is known to play an essential role in this process. The aim of this study was to evaluate the implication of the EDN3 and EDNRB genes in a series of patients with Hirschsprung disease from Spain and determinate their mutational spectrum.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
1530-0366
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
12
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
39-43
|
| pubmed:meshHeading |
pubmed-meshheading:20009762-Case-Control Studies,
pubmed-meshheading:20009762-DNA Mutational Analysis,
pubmed-meshheading:20009762-Down Syndrome,
pubmed-meshheading:20009762-Endothelin-3,
pubmed-meshheading:20009762-Female,
pubmed-meshheading:20009762-Frameshift Mutation,
pubmed-meshheading:20009762-Genetic Variation,
pubmed-meshheading:20009762-Hirschsprung Disease,
pubmed-meshheading:20009762-Humans,
pubmed-meshheading:20009762-Male,
pubmed-meshheading:20009762-Receptor, Endothelin B,
pubmed-meshheading:20009762-Reference Values,
pubmed-meshheading:20009762-Sequence Deletion
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.
|
| pubmed:affiliation |
Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospital Universitario Virgen del Rocío, Seville, Spain.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|