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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2005-7-26
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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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing,
http://linkedlifedata.com/resource/pubmed/chemical/Antigens, CD,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/ENG protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MLH1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Neoplasm Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Cell Surface,
http://linkedlifedata.com/resource/pubmed/chemical/Transforming Growth Factor beta,
http://linkedlifedata.com/resource/pubmed/chemical/Vascular Cell Adhesion Molecule-1
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0020-7136
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pubmed:author |
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pubmed:copyrightInfo |
(c) 2005 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
20
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pubmed:volume |
116
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
808-12
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15849752-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:15849752-Adult,
pubmed-meshheading:15849752-Alleles,
pubmed-meshheading:15849752-Antigens, CD,
pubmed-meshheading:15849752-Base Pair Mismatch,
pubmed-meshheading:15849752-Carrier Proteins,
pubmed-meshheading:15849752-Colorectal Neoplasms, Hereditary Nonpolyposis,
pubmed-meshheading:15849752-DNA Repair,
pubmed-meshheading:15849752-Exons,
pubmed-meshheading:15849752-Female,
pubmed-meshheading:15849752-Genetic Linkage,
pubmed-meshheading:15849752-Humans,
pubmed-meshheading:15849752-Male,
pubmed-meshheading:15849752-Middle Aged,
pubmed-meshheading:15849752-Mutation,
pubmed-meshheading:15849752-Neoplasm Proteins,
pubmed-meshheading:15849752-Nuclear Proteins,
pubmed-meshheading:15849752-Receptors, Cell Surface,
pubmed-meshheading:15849752-Telangiectasia, Hereditary Hemorrhagic,
pubmed-meshheading:15849752-Transforming Growth Factor beta,
pubmed-meshheading:15849752-Vascular Cell Adhesion Molecule-1
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pubmed:year |
2005
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pubmed:articleTitle |
Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred.
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pubmed:affiliation |
Department of Medicine, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
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pubmed:publicationType |
Journal Article
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