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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2008-9-5
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pubmed:abstractText |
Autosomal dominant hypercholesterolemia (ADH) is a genetic disorder characterized by increased low-density lipoprotein (LDL)-cholesterol levels, leading to high risk of premature cardiovascular disease. More than 900 mutations in LDL receptor, six in APOB and 10 in PCSK9 have been identified as a cause of the disease in different populations. All known mutations in PCSK9 causing hypercholesterolemia produce an increase in the enzymatic activity of this protease. Up to now, there are data about the implication of PCSK9 in ADH in a low number of populations, not including a Spanish population.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0021-972X
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pubmed:author |
pubmed-author:AscasoJuan FranciscoJF,
pubmed-author:BlesaSebastianS,
pubmed-author:CarmenaRafaelR,
pubmed-author:CasadoMartaM,
pubmed-author:ChavesFelipe JavierFJ,
pubmed-author:Garcia-GarciaAna-BarbaraAB,
pubmed-author:Gonzalez-AlbertVeronicaV,
pubmed-author:IvorraCarmenC,
pubmed-author:Martín-EscuderoJuan CarlosJC,
pubmed-author:Martinez-HervasSergioS,
pubmed-author:RealJose TomasJT,
pubmed-author:VerniaSantiagoS
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pubmed:issnType |
Print
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3577-83
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pubmed:dateRevised |
2009-1-29
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pubmed:meshHeading |
pubmed-meshheading:18559913-Adult,
pubmed-meshheading:18559913-Animals,
pubmed-meshheading:18559913-Base Sequence,
pubmed-meshheading:18559913-Case-Control Studies,
pubmed-meshheading:18559913-Cells, Cultured,
pubmed-meshheading:18559913-Gene Expression,
pubmed-meshheading:18559913-Gene Frequency,
pubmed-meshheading:18559913-Humans,
pubmed-meshheading:18559913-Hyperlipoproteinemia Type II,
pubmed-meshheading:18559913-Mice,
pubmed-meshheading:18559913-Middle Aged,
pubmed-meshheading:18559913-Mutant Proteins,
pubmed-meshheading:18559913-NIH 3T3 Cells,
pubmed-meshheading:18559913-Polymorphism, Single Nucleotide,
pubmed-meshheading:18559913-Promoter Regions, Genetic,
pubmed-meshheading:18559913-Serine Endopeptidases,
pubmed-meshheading:18559913-Spain,
pubmed-meshheading:18559913-Transfection
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pubmed:year |
2008
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pubmed:articleTitle |
A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.
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pubmed:affiliation |
Laboratorio de Estudios Genéticos, Fundación de Investigación Hospital Clínico, Universitario de Valencia, Avda. Blasco Ibáñez 17, E-46010 Valencia, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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