Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2002-9-25
pubmed:databankReference
pubmed:abstractText
Hirschsprung disease (HSCR) is a common genetic disorder characterized by intestinal obstruction secondary to enteric aganglionosis. HSCR demonstrates a complex pattern of inheritance, with the RET proto-oncogene acting as a major gene and with several additional susceptibility loci related to the Ret-signaling pathway or to other developmental programs of neural crest cells. To test how the HSCR phenotype may be affected by the presence of genetic variants, we investigated the role of a single-nucleotide polymorphism (SNP), 2508C-->T (S836S), in exon 14 of the RET gene, characterized by low frequency among patients with HSCR and overrepresentation in individuals affected by sporadic medullary thyroid carcinoma. Typing of several different markers across the RET gene demonstrated that a whole conserved haplotype displayed anomalous distribution and nonrandom segregation in families with HSCR. We provide genetic evidence about a protective role of this low-penetrant haplotype in the pathogenesis of HSCR and demonstrate a possible functional effect linked to RET messenger RNA expression.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-10090908, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-10799972, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-10838497, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-10922382, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-10980580, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-11084863, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-11106284, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-11562352, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-11953745, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-11955539, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-12123817, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-2309705, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-7478523, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-7581377, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-8001158, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-8084609, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-9519873, http://linkedlifedata.com/resource/pubmed/commentcorrection/12214285-9764818
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
969-74
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.
pubmed:affiliation
Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't