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rdf:type |
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lifeskim:mentions |
umls-concept:C0017262,
umls-concept:C0018591,
umls-concept:C0035647,
umls-concept:C0185117,
umls-concept:C0205217,
umls-concept:C0205341,
umls-concept:C0332256,
umls-concept:C0332281,
umls-concept:C1446659,
umls-concept:C1519595,
umls-concept:C1720655,
umls-concept:C1947974,
umls-concept:C2700455,
umls-concept:C2911684
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pubmed:issue |
3
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pubmed:dateCreated |
2007-3-2
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pubmed:abstractText |
Previously we have shown that the H1c haplotype on the background of the H1 clade of haplotypes at the MAPT locus is associated with increased risk for progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and Alzheimer's disease (AD). Here we replicated the association with AD in an additional autopsy confirmed series. We show that this haplotype increases both the expression of total MAPT transcript as well as specifically increasing the proportion of 4 microtubule binding repeat containing transcripts. We discuss these findings both in terms of the problems facing the dissection of the etiologies of complex traits and the pathogenesis of the tauopathies.
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pubmed:grant |
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0969-9961
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pubmed:author |
pubmed-author:ArnoldSteveS,
pubmed-author:ClarkChristopherC,
pubmed-author:FormanMark SMS,
pubmed-author:HardyJohnJ,
pubmed-author:KaleemMonaM,
pubmed-author:KarlawishJasonJ,
pubmed-author:LeesAndrewA,
pubmed-author:LeungDorisD,
pubmed-author:MarloweLaurenL,
pubmed-author:McKeithIan GIG,
pubmed-author:MorrisChris MCM,
pubmed-author:MyersAmanda JAJ,
pubmed-author:PerryRobert HRH,
pubmed-author:PittmanAlan MAM,
pubmed-author:RohrerKristenK,
pubmed-author:TrojanowskiJohn QJQ,
pubmed-author:Van DeerlinViviannaV,
pubmed-author:ZhaoAlice SAS,
pubmed-author:de SilvaRohanR
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pubmed:issnType |
Print
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
561-70
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pubmed:dateRevised |
2007-12-3
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pubmed:meshHeading |
pubmed-meshheading:17174556-Age of Onset,
pubmed-meshheading:17174556-Alleles,
pubmed-meshheading:17174556-Alzheimer Disease,
pubmed-meshheading:17174556-Cell Line, Tumor,
pubmed-meshheading:17174556-Gene Expression Regulation,
pubmed-meshheading:17174556-Genetic Predisposition to Disease,
pubmed-meshheading:17174556-Haplotypes,
pubmed-meshheading:17174556-Heterozygote,
pubmed-meshheading:17174556-Homozygote,
pubmed-meshheading:17174556-Humans,
pubmed-meshheading:17174556-Neuroblastoma,
pubmed-meshheading:17174556-RNA, Messenger,
pubmed-meshheading:17174556-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:17174556-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:17174556-Risk Factors,
pubmed-meshheading:17174556-Tauopathies,
pubmed-meshheading:17174556-tau Proteins
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pubmed:year |
2007
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pubmed:articleTitle |
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts.
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pubmed:affiliation |
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892-3707, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural,
Research Support, N.I.H., Intramural
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