16 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)

Article

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Ruth Loos and colleagues use genome-wide association to identify common variants influencing body fat percentage. Unexpectedly, they show that a body-fat–decreasing allele near IRS1 is associated with an impaired...

Tuomas O Kilpeläinen, M Carola Zillikens, Alena Stančákova… in Nature Genetics (2011)

Article

Common variants associated with plasma triglycerides and risk for coronary artery disease

Sekar Kathiresan and colleagues examine 185 common variants using a modified mendelian randomization approach and provide evidence supporting a causal role of triglyceride-rich lipoproteins in the development ...

Ron Do, Cristen J Willer, Ellen M Schmidt, Sebanti Sengupta, Chi Gao… in Nature Genetics (2013)

Article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Andrew Morris, Mark McCarthy, Michael Boehnke and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes, including 26,488 cases and 83,964 controls from populations of Europe...

Anubha Mahajan, Min ** Go, Weihua Zhang, Jennifer E Below… in Nature Genetics (2014)

Article

Defining the role of common variation in the genomic and biological architecture of adult human height

Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci signif...

Andrew R Wood, Tonu Esko, Jian Yang, Sailaja Vedantam, Tune H Pers… in Nature Genetics (2014)

Article

Genetic fine map** and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine map** and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants i...

Kyle J Gaulton, Teresa Ferreira, Yeji Lee, Anne Raimondo, Reedik Mägi… in Nature Genetics (2015)

Chapter

Inborn Errors of Lipoprotein Metabolism Presenting in Childhood

Lipids are highly diverse molecules that are traditionally best known for their role in the formation of biological membranes and cellular systems and as a way to store energy. In the last decade, lipids have ...

Uma Ramaswami, Steve E. Humphries in Inborn Metabolic Diseases (2022)