Search Results - "Brunham, L."

Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice by Kruit, J. K, Kremer, P. H. C, Dai, L, Tang, R, Ruddle, P, de Haan, W, Brunham, L. R, Verchere, C. B, Hayden, M. R

“…Aims/hypothesis Cellular cholesterol accumulation is an emerging mechanism for beta cell dysfunction in type 2 diabetes. Absence of the cholesterol transporter…”
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Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin by Brunham, L R, Lansberg, P J, Zhang, L, Miao, F, Carter, C, Hovingh, G K, Visscher, H, Jukema, J W, Stalenhoef, A F, Ross, C J D, Carleton, B C, Kastelein, J J P, Hayden, M R

“…Statins reduce cardiovascular morbidity and mortality in appropriately selected patients. However, statin-associated myopathy is a significant risk associated…”
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Development and Validation of Algorithms for the Detection of Statin Myopathy Signals From Electronic Medical Records by Chan, SL, Tham, MY, Tan, SH, Loke, C, Foo, BPQ, Fan, Y, Ang, PS, Brunham, LR, Sung, C

“…The purpose of this study was to develop and validate sensitive algorithms to detect hospitalized statin‐induced myopathy (SIM) cases from electronic medical…”
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Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans by Brunham, LR, Tietjen, I, Bochem, AE, Singaraja, RR, Franchini, PL, Radomski, C, Mattice, M, Legendre, A, Hovingh, GK, Kastelein, JJP, Hayden, MR

“…Brunham LR, Tietjen I, Bochem AE, Singaraja RR, Franchini PL, Radomski C, Mattice M, Legendre A, Hovingh GK, Kastelein JJP, Hayden MR. Novel mutations in…”
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Molecular diagnosis of abnormalities of HDL cholesterol by targeted next-generation sequencing by Sadananda, S, Foo, J.N, Toh, M.T, Francis, G, Frohlich, J, Khor, C.C, Brunham, L

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Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent by Aminkeng, F, Ross, C J D, Rassekh, S R, Brunham, L R, Sistonen, J, Dube, M-P, Ibrahim, M, Nyambo, T B, Omar, S A, Froment, A, Bodo, J-M, Tishkoff, S, Carleton, B C, Hayden, M R

“…There is established clinical evidence for differences in drug response, cure rates and survival outcomes between different ethnic populations, but the causes…”
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CONTEMPORARY TRENDS IN THE MANAGEMENT AND OUTCOMES OF PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CANADA by Brunham, L, Cermakova, L, Alloul, K, de Chantal, M, Francis, G, Frohlich, J

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TARGETED NEXT-GENERATION SEQUENCING TO DIAGNOSE ABNORMALITIES OF HDL CHOLESTEROL by Brunham, L, Sadananda, S, Foo, J, Frohlich, J, Francis, G, Khor, C

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Intestinal ABCA1 directly contributes to HDL biogenesis in vivo by Brunham, Liam R, Kruit, Janine K, Iqbal, Jahangir, Fievet, Catherine, Timmins, Jenelle M, Pape, Terry D, Coburn, Bryan A, Bissada, Nagat, Staels, Bart, Groen, Albert K, Hussain, M Mahmood, Parks, John S, Kuipers, Folkert, Hayden, Michael R

“…Plasma HDL cholesterol levels are inversely related to risk for atherosclerosis. The ATP-binding cassette, subfamily A, member 1 (ABCA1) mediates the…”
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Pharmacogenomic diversity in Singaporean populations and Europeans by Brunham, L R, Chan, S L, Li, R, Aminkeng, F, Liu, X, Saw, W Y, Ong, R T H, Pillai, E N, Carleton, B C, Toh, D, Tan, S H, Koo, S H, Lee, E J D, Chia, K S, Ross, C J D, Hayden, M R, Sung, C, Teo, Y Y

“…Differences in the frequency of pharmacogenomic variants may influence inter-population variability in drug efficacy and risk of adverse drug reactions (ADRs)…”
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Cholesterol toxicity in pancreatic islets from LDL receptor-deficient mice. Reply to: de Souza JC, de Oliveira CAM, Carneiro EM et al. [letter] by Kruit, J. K., Brunham, L. R., Verchere, C. B., Hayden, M. R.

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Efflux and Atherosclerosis: The Clinical and Biochemical Impact of Variations in the ABCA1 Gene by Singaraja, Roshni R, Brunham, Liam R, Visscher, Henk, Kastelein, John J.P, Hayden, Michael R

“…Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and…”
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A common mutation in IVD associated with asymptomatic isovaleric acidemia: implications for newborn screening by Brunham, LR

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The long and short of it: C-type naturietic peptide as a novel therapy for achondroplasia? by Brunham, LR

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What we have learned from the DNA sequences of human chromosomes 21 and 22 by Brunham, L

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Cilia get serious: Meckel-Gruber and Bardet-Biedl syndromes represent a spectrum of allelic disorders by Brunham, LR

“…Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet‐Biedl syndrome
Leitch et al. (2008)
Nature Genetics 40: 443–448…”
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LeaPIN' toward the cause of myoglobinuria in childhood by Brunham, LR

“…Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood
Zeharia et al. (2008)
The American Journal of Human Genetics 83: 1–6…”
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ALAS, our frailty is the cause ... of a new for form of protoporphyria by Brunham, LR

“…C‐terminal deletions in the ALAS2 gene lead to gain of function and cause X‐linked dominant protoporphyria without anemia or iron overload
Whatley et al…”
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Major adverse cardiovascular events in homozygous familial hypercholesterolemia: A systematic review and meta-analysis by Brunham, L., Kramer, A., Akioyamen, L., Genest, J., Lee, S.

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SCREENING FOR INHERITED DYSLIPIDEMIAS AND SUBCLINICAL ATHEROSCLEROSIS IN FIRST DEGREE RELATIVES OF PATIENTS WITH PREMATURE CORONARY ARTERY DISEASE: DIAGNOSTIC YIELD AND IMPACT ON PATIENTS MANAGEMENT by Vikulova, D, Pimstone, S, Brunham, L

“…The screening of first-degree relatives (FDR) of patients with premature atherosclerotic cardiovascular disease (ASCVD) is recommended due to its high…”
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