11 Result(s)

Article

A PvuII polymorphism in the 5′ flanking region of the apolipoprotein AIV gene: its use to study genetic variation determining serum lipid and apolipoprotein concentration

We have used a 1.05-kb unique genomic fragment from the 5′ end of the apolipoprotein (apo) CIII gene to identify a restriction fragment length polymorphism (RFLP) detected with the restriction enzyme PvuII, in th...

Anna M. Kessling, Rohan Taylor, Anne Temple, Julie Hutson, Alicia Hidalgo… in Human Genetics (1988)

Article

Relationships between DNA and protein polymorphisms of apolipoprotein B

The associations between four restriction fragment length polymorphisms (RFLPs) of the gene for human apolipoprotein B (apo B) and five antigen group (Ag) protein-polymorphisms of apo B have been investigated ...

Alison M. Dunning, Matti J. Tikkanen, Christian Ehnholm, René Bütler… in Human Genetics (1988)

Article

Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands

This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150unrelated Greek familial hypercholes-terolaemia (FH) heterozygous children by the analysis of six...

Joanne Traeger-Synodinos, Nicholas Mavroidis, E. Kanavakis… in Human Genetics (1998)

Article

Hugh Markus (Editor) Report on stroke genetics

Steve E. Humphries in Human Genetics (2004)

Article

Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth

The adult heart relies predominantly on fatty acids (FA) for energy generation, and defects in FA catabolism cause dramatic left ventricular (LV) growth in early age. Since lipoprotein lipase (LPL) is the key ...

David M. Flavell, Peter T. E. Wootton, Saul G. Myerson… in Journal of Molecular Medicine (2006)

Article

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clini...

Steve E. Humphries, Treena Cranston, Marcus Allen… in Journal of Molecular Medicine (2006)

Article

Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women

Common variants of TCF7L2, encoding a β-cell-expressed transcription factor, are strongly associated with increased risk of type 2 diabetes (T2D). We examined this association using both prospective and case-cont...

Steve E. Humphries, David Gable, Jackie A. Cooper… in Journal of Molecular Medicine (2006)