Full Text Journal Articles by
Author Roslyn A Whittall


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Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

Waqas Ahmed, Muhammad Ajmal, Ahmed Sadeque, Roslyn A Whittall, Sobia Rafiq, Wendy Putt, Athar Khawaja, Fauzia Imtiaz, Nuzhat Ahmed, Maleeha Azam, Steve E Humphries, Raheel Qamar,

The majority of patients with the autosomal dominant disorder familial hypercholesterolemia (FH) carry novel mutations in the low density lipoprotein receptor (LDLR) that is involved in cholesterol regulation. In different populations the spectrum of mutations identified is quite different and to date there have been only a few reports of ... Read more >>

Mol. Biol. Rep. (Molecular biology reports)
[2012, 39(7):7365-7372]

Cited: 4 times

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Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.

Steve E Humphries, R Dermot G Neely, Roslyn A Whittall, Jason S Troutt, Robert J Konrad, Marileia Scartezini, Ka Wah Li, Jackie A Cooper, Jayshree Acharya, Andrew Neil,

BACKGROUND:We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisin/kexin type 9) loss-of-function variant (p.R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes. METHODS:PCSK9 was ... Read more >>

Clin. Chem. (Clinical chemistry)
[2009, 55(12):2153-2161]

Cited: 22 times

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Serum homocysteine concentrations, gemfibrozil treatment, and progression of coronary atherosclerosis.

Mikko Syvänne, Roslyn A Whittall, Ursula Turpeinen, Markku S Nieminen, M Heikki Frick, Y Antero Kesäniemi, Amos Pasternack, Steve E Humphries, Marja-Riitta Taskinen,

The present study aimed to assess the effect of gemfibrozil on serum total homocysteine (tHcy) concentration and to evaluate the influence of tHcy on the angiographically determined progression of coronary atherosclerosis in a randomised, placebo-controlled trial of 395 post-coronary bypass men with low HDL cholesterol levels. The baseline levels of ... Read more >>

Atherosclerosis (Atherosclerosis)
[2004, 172(2):267-272]

Cited: 19 times

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