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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2005-2-24
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pubmed:abstractText |
Trichilemmal cysts (also named pilar cyst) derived from the outer root sheath of the deeper parts of the hair follicle can segregate dominantly, and are caused by a yet unknown gene. In order to identify candidate genes for this trait we have ascertained a Danish family with 38 persons (11 affected), and carried out a genome wide scan with 580 DNA micro-satellite markers to identify the locus for a gene, which we termed TRICY1 (for trichilemmal cysts). We found tight linkage to D3S1277 (Z = 4.63; theta(M = F) = 0.00), with flanking markers D3S2432 (Z = 1.59; theta(M = F) = 0.08), and D3S3685 (Z = 2.69; theta(M = F) = 0.08) spanning 10.3 Mb on chromosome 3p24-p21.2. We sequenced two candidate genes previously reported in inherited hair defects, CTNNB1 and MLH1 but failed to detect mutations in exons and intron-exon bounders.
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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/CTNNB1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Cytoskeletal Proteins,
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/Trans-Activators,
http://linkedlifedata.com/resource/pubmed/chemical/beta Catenin
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1552-4825
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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 |
15
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pubmed:volume |
133A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
44-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15637721-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:15637721-Carrier Proteins,
pubmed-meshheading:15637721-Chromosome Mapping,
pubmed-meshheading:15637721-Chromosomes, Human, Pair 3,
pubmed-meshheading:15637721-Cytoskeletal Proteins,
pubmed-meshheading:15637721-DNA Mutational Analysis,
pubmed-meshheading:15637721-Denmark,
pubmed-meshheading:15637721-Epidermal Cyst,
pubmed-meshheading:15637721-Female,
pubmed-meshheading:15637721-Genetic Linkage,
pubmed-meshheading:15637721-Genetic Predisposition to Disease,
pubmed-meshheading:15637721-Humans,
pubmed-meshheading:15637721-Lod Score,
pubmed-meshheading:15637721-Male,
pubmed-meshheading:15637721-Microsatellite Repeats,
pubmed-meshheading:15637721-Neoplasm Proteins,
pubmed-meshheading:15637721-Nuclear Proteins,
pubmed-meshheading:15637721-Pedigree,
pubmed-meshheading:15637721-Scalp,
pubmed-meshheading:15637721-Trans-Activators,
pubmed-meshheading:15637721-beta Catenin
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pubmed:year |
2005
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pubmed:articleTitle |
Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1.
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pubmed:affiliation |
Department of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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