pubmed-article:15849752 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:15849752 | lifeskim:mentions | umls-concept:C1333990 | lld:lifeskim |
pubmed-article:15849752 | lifeskim:mentions | umls-concept:C0039445 | lld:lifeskim |
pubmed-article:15849752 | lifeskim:mentions | umls-concept:C0004083 | lld:lifeskim |
pubmed-article:15849752 | lifeskim:mentions | umls-concept:C0598429 | lld:lifeskim |
pubmed-article:15849752 | pubmed:issue | 5 | lld:pubmed |
pubmed-article:15849752 | pubmed:dateCreated | 2005-7-26 | lld:pubmed |
pubmed-article:15849752 | pubmed:abstractText | Endoglin (CD105) is a proliferation-associated protein that is strongly expressed in endothelial tissue and has a role in tumor angiogenesis. Mutations in endoglin are also linked to Hereditary Hemorrhagic Telangiectasia type 1 (HHT1), an autosomal dominant disease associated with aberrant angiogenesis. We report an unusual association of HHT1 and Hereditary Nonpolyposis Colorectal Cancer (HNPCC) in the same kindred. Genetic analysis indicates that these 2 syndromes are genetically unrelated and separately segregated within the family. The mutation in the endoglin gene leads to a truncated protein. The mutation in the mismatch repair gene MLH1 causes a splicing defect, giving synthesis to an unstable mRNA from this mutated allele. The potential protective role of an endoglin mutation in patients with HNPCC is discussed. | lld:pubmed |
pubmed-article:15849752 | pubmed:language | eng | lld:pubmed |
pubmed-article:15849752 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15849752 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:15849752 | pubmed:month | Sep | lld:pubmed |
pubmed-article:15849752 | pubmed:issn | 0020-7136 | lld:pubmed |
pubmed-article:15849752 | pubmed:author | pubmed-author:HershcoviciTi... | lld:pubmed |
pubmed-article:15849752 | pubmed:author | pubmed-author:Chajek-ShaulT... | lld:pubmed |
pubmed-article:15849752 | pubmed:author | pubmed-author:GoldshmidtOri... | lld:pubmed |
pubmed-article:15849752 | pubmed:author | pubmed-author:WexlerIsaiah... | lld:pubmed |
pubmed-article:15849752 | pubmed:author | pubmed-author:GoldschmidtNe... | lld:pubmed |
pubmed-article:15849752 | pubmed:author | pubmed-author:MetzgerShulam... | lld:pubmed |
pubmed-article:15849752 | pubmed:copyrightInfo | (c) 2005 Wiley-Liss, Inc. | lld:pubmed |
pubmed-article:15849752 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:15849752 | pubmed:day | 20 | lld:pubmed |
pubmed-article:15849752 | pubmed:volume | 116 | lld:pubmed |
pubmed-article:15849752 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:15849752 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:15849752 | pubmed:pagination | 808-12 | lld:pubmed |
pubmed-article:15849752 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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pubmed-article:15849752 | pubmed:year | 2005 | lld:pubmed |
pubmed-article:15849752 | pubmed:articleTitle | Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred. | lld:pubmed |
pubmed-article:15849752 | pubmed:affiliation | Department of Medicine, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel. | lld:pubmed |
pubmed-article:15849752 | pubmed:publicationType | Journal Article | lld:pubmed |