55 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)

Chapter

Use of DNA technology in the diagnosis of occult atherosclerotic disease

Cardiovascular disease (CVD) is a major contributor to mortality in western industrialised countries [1]. Its principle cause is atherosclerosis, with clinical effects only becoming apparant after years of asy...

Richard S. Houlston, Steve E. Humphries in Occult Atherosclerotic Disease (1991)

Protocol

Microtiter Array Diagonal Gel Electrophoresis (MADGE) for Population Scale Genotype Analyses

Human populations display enormous genetic variation, evident both at the phenotypic level and at the DNA level. These variations include both single “mutations” causative of profound disease and variations th...

Ian N. M. Day, Manjeet Bolla, Lema Haddad… in Molecular Diagnosis of Genetic Diseases (1996)

Protocol

High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis

In most patients with familial hypercholesterolemia (FH) the disorder is caused by a mutation in the gene coding for the low density lipoprotein receptor (LDL-R) (1). The variety of different defects observed in ...

Steve E. Humphries, Vilmundur Gudnason… in Molecular Diagnosis of Genetic Diseases (1996)

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

The serum angiotensin-converting enzyme and angiotensin II response to altered posture and acute exercise, and the influence of ACE genotype

The deletion (D) rather than insertion (I) allele of the angiotensin-converting enzyme (ACE) gene is associated with greater ACE activity. We examined: (1) the influence of posture change (recumbent to seated)...

David Woods, Julie Sanders, Alun Jones, Emma Hawe… in European Journal of Applied Physiology (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

Acute renal failure in a patient with paroxysmal cold hemoglobinuria

Acute renal failure following auto-immune hemolysis is rare. We report a child with acute paroxysmal cold hemoglobinuria (PCH) complicated by renal failure. She was treated by peritoneal dialysis and red blood...

Daljit K. Hothi, Paul Bass, Mary Morgan, Jayshree Acharya… in Pediatric Nephrology (2007)

Article

Angiotensin-converting enzyme D allele does not influence susceptibility to acute hypoxic respiratory failure in children

The D allele of the I/D polymorphism in the angiotensin-converting enzyme (ACE) gene has been associated with an increased risk of ARDS in critically ill adults and severity of bronchopulmonary dysplasia in pre-t...

Adrian Plunkett, Rachel S. Agbeko, KaWah Li, Steve E. Humphries… in Intensive Care Medicine (2008)