Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-2-9
pubmed:abstractText
We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode mutant proteins with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-10072428, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-10469842, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-10477433, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-10932188, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-10973239, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-10974003, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-11321598, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-11419427, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-12370292, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-12588804, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-14661064, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-14722155, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-15235021, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-15703188, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-8891372, http://linkedlifedata.com/resource/pubmed/commentcorrection/15831593-9537325
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1468-6244
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
138-42
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.
pubmed:affiliation
Department of Genetics, Rouen University Hospital, Rouen, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural