Full Text Journal Articles by
Author Wendy Putt


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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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The effects of a single nucleotide polymorphism in SLCO1B1 on the pharmacodynamics of pravastatin.

Nicholas G Martin, Ka Wah Li, Heather Murray, Wendy Putt, Chris J Packard, Steve E Humphries,

To determine whether the SNP rs4149056 in SLCO1B1 alters the pharmacodynamics of pravastatin.rs4149056 was genotyped in 626 pravastatin-treated participants in the WOSCOPS trial and the response after 1 year of treatment was compared between the different genotypes.Pravastatin reduced serum LDL cholesterol by 22.2% in TT homozygotes, by 22.2% in TC ... Read more >>

Br J Clin Pharmacol (British journal of clinical pharmacology)
[2012, 73(2):303-306]

Cited: 9 times

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Structure and function of the apoA-IV T347S and Q360H common variants.

Monica Gomaraschi, Wendy E Putt, Silvia Pozzi, Stefania Iametti, Alberto Barbiroli, Francesco Bonomi, Elda Favari, Franco Bernini, Guido Franceschini, Philippa J Talmud, Laura Calabresi,

Human apolipoprotein A-IV (apoA-IV) is involved in chylomicron assembly and secretion, and in reverse cholesterol transport. Several apoA-IV isoforms exist, the most common in Caucasian populations being apoA-IV-1a (T347S) and apoA-IV-2 (Q360H). The objective of the present study was to investigate the impact of these common aminoacid substitutions on the ... Read more >>

Biochem. Biophys. Res. Commun. (Biochemical and biophysical research communications)
[2010, 393(1):126-130]

Cited: 7 times

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The functional interaction on in vitro gene expression of APOA5 SNPs, defining haplotype APOA52, and their paradoxical association with plasma triglyceride but not plasma apoAV levels.

Jutta Palmen, Andrew J P Smith, Birgit Dorfmeister, Wendy Putt, Steve E Humphries, Philippa J Talmud,

Plasma triglyceride (TG) and apoAV levels are reported to be positively correlated, yet SNPs defining haplotype APOA52 have consistently shown association with elevated plasma triglyceride (TG) but not plasma apoAV levels. We previously reported that individually -1131T>C, -3A>G and +1891T>C did not influence luciferase activity or in vitro translation efficiency. ... Read more >>

Biochim. Biophys. Acta (Biochimica et biophysica acta)
[2008, 1782(7-8):447-452]

Cited: 24 times

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Common variants of apolipoprotein A-IV differ in their ability to inhibit low density lipoprotein oxidation.

Wai-Man R Wong, Andrew B Gerry, Wendy Putt, Jane L Roberts, Richard B Weinberg, Steve E Humphries, David S Leake, Philippa J Talmud,

Apolipoprotein A-IV (apoA-IV) inhibits lipid peroxidation, thus demonstrating potential anti-atherogenic properties. The aim of this study was to investigate how the inhibition of low density lipoprotein (LDL) oxidation was influenced by common apoA-IV isoforms. Recombinant wild type apoA-IV (100 microg/ml) significantly inhibited the oxidation of LDL (50 microg protein/ml) by ... Read more >>

Atherosclerosis (Atherosclerosis)
[2007, 192(2):266-274]

Cited: 20 times

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Determination of the functionality of common APOA5 polymorphisms.

Philippa J Talmud, Jutta Palmen, Wendy Putt, Laurence Lins, Steve E Humphries,

Common variants of APOA5 have consistently shown association with differences in plasma triglyceride (TG) levels. These single nucleotide polymorphisms (SNPs) fall into three common haplotypes: APOA5*1, with common alleles at all sites; APOA5*2, with rare alleles of -1131T--> C, -3A--> G, 751G--> T, and 1891T--> C; and APOA5*3, distinguished by ... Read more >>

J. Biol. Chem. (The Journal of biological chemistry)
[2005, 280(31):28215-28220]

Cited: 74 times

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Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II.

Wendy Putt, Jutta Palmen, Viviane Nicaud, David-Alexandre Tregouet, Nadia Tahri-Daizadeh, David M Flavell, Steve E Humphries, Philippa J Talmud, ,

Upstream stimulatory factor 1 (USF 1), is a transcription factor controlling expression of several genes involved in lipid and glucose homeostasis and co-localizes with familial combined hyperlipidemia (FCHL) and type 2 diabetes on chromosome 1q22-23. We sequenced USF1 in 24 UK FCHL probands, but found no rare or common cSNPs. ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2004, 13(15):1587-1597]

Cited: 54 times

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A study of short utrophin isoforms in mice deficient for full-length utrophin.

Cecilia Jimenez-Mallebrera, Kay Davies, Wendy Putt, Yvonne H Edwards,

Utrophin can functionally replace dystrophin in dystrophin-deficient muscle and may have a role in a therapeutic strategy for Duchenne muscular dystrophy. This has resulted in many investigations of the full-length muscle form of utrophin; however, the short utrophins and non-muscle forms have been relatively neglected, partly because they are difficult ... Read more >>

Mamm. Genome (Mammalian genome : official journal of the International Mammalian Genome Society)
[2003, 14(1):47-60]

Cited: 11 times

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Enhanced bridging function and augmented monocyte adhesion by lipoprotein lipase N9: insights into increased risk of coronary artery disease in N9 carriers.

Rachel M Fisher, Ferdaous Benhizia, Renate Schreiber, Elena Makoveichuk, Wendy Putt, Maysoon Al-Haideri, Richard J Deckelbaum, Gunilla Olivecrona, Steve E Humphries, Philippa J Talmud,

Lipoprotein lipase (LPL) is central to triacylglycerol (TG) metabolism, having both hydrolytic and bridging functions. The common LPL gene variant D9N is associated with raised TG, reduced HDL-cholesterol concentrations and increased risk of coronary artery disease (CAD). To investigate the functional basis for the phenotype in N9 carriers, CHO K1 ... Read more >>

Atherosclerosis (Atherosclerosis)
[2003, 166(2):243-251]

Cited: 11 times

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