Search Results - "Motulsky, Arno G."

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes by Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jerry H., Rosenthal, Elisabeth A., Kim, Daniel S., Tabor, Holly K., Bamshad, Michael J., Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom, Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Nickerson, Deborah A., Jarvik, Gail P.

“…The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no…”
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Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia by Rosenthal, Elisabeth A., Ranchalis, Jane, Crosslin, David R., Burt, Amber, Brunzell, John D., Motulsky, Arno G., Nickerson, Deborah A., Wijsman, Ellen M., Jarvik, Gail P.

“…Hypertriglyceridemia (HTG) is a heritable risk factor for cardiovascular disease. Investigating the genetics of HTG may identify new drug targets. There are…”
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Response of serum and red blood cell folate concentrations to folic acid supplementation depends on methylenetetrahydrofolate reductase C677T genotype: Results from a crossover trial by Anderson, Cheryl A. M., Beresford, Shirley A. A., McLerran, Dale, Lampe, Johanna W., Deeb, Samir, Feng, Ziding, Motulsky, Arno G.

“…Scope By increasing blood folate concentrations, folic acid supplementation reduces risk for neural tube defect‐affected pregnancies, and lowers homocysteine…”
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Genetic and nongenetic sources of variation in phospholipid transfer protein activity[S] by Jarvik, Gail P., Rajagopalan, Ramakrishnan, Rosenthal, Elisabeth A., Wolfbauer, Gertrud, McKinstry, Laura, Vaze, Aditya, Brunzell, John, Motulsky, Arno G., Nickerson, Deborah A., Heagerty, Patrick J., Wijsman, Ellen M., Albers, John J.

“…Phospholipid transfer protein (PLTP) belongs to the lipid transfer/lipopolysaccharide-binding protein gene family. Expression of PLTP has been implicated in…”
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Linkage and association of phospholipid transfer protein activity to LASS4 by Rosenthal, Elisabeth A., Ronald, James, Rothstein, Joseph, Rajagopalan, Ramakrishnan, Ranchalis, Jane, Wolfbauer, G., Albers, John J., Brunzell, John D., Motulsky, Arno G., Rieder, Mark J., Nickerson, Deborah A., Wijsman, Ellen M., Jarvik, Gail P.

“…Phospholipid transfer protein activity (PLTPa) is associated with insulin levels and has been implicated in atherosclerotic disease in both mice and humans…”
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A German‐Jewish refugee in Vichy France 1939–1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs by Motulsky, Arno G.

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Cardiovascular disease mortality in familial forms of hypertriglyceridemia : A 20-year prospective study by AUSTIN, M. A, MCKNIGHT, B, EDWARDS, K. L, BRADLEY, C. M, MCNEELY, M. J, PSATY, B. M, BRUNZELL, J. D, MOTULSKY, A. G

“…Familial combined hyperlipidemia (FCHL) and familial hypertriglyceridemia (FHTG) are 2 of the most common familial forms of hyperlipidemia. There is a paucity…”
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Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria by Pierce, Sarah B, Spurrell, Cailyn H, Mandell, Jessica B, Lee, Ming K, Zeligson, Sharon, Bereman, Michael S, Stray, Sunday M, Fokstuen, Siv, MacCoss, Michael J, Levy-Lahad, Ephrat, King, Mary-Claire, Motulsky, Arno G

“…Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three…”
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Small, Dense LDL and Elevated Apolipoprotein B Are the Common Characteristics for the Three Major Lipid Phenotypes of Familial Combined Hyperlipidemia by Ayyobi, Amir F, McGladdery, Sandra H, McNeely, Marguerite J, Austin, Melissa A, Motulsky, Arno G, Brunzell, John D

“…OBJECTIVE—Familial combined hyperlipidemia (FCHL) is associated with variable lipid and lipoprotein phenotypes arbitrarily defined as type IIa, IIb, and IV…”
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Frequent Detection of Familial Hypercholesterolemia Mutations in Familial Combined Hyperlipidemia by Jarvik, Gail P., MD, PhD, Brunzell, John D., MD, Motulsky, Arno G., MD, ScD

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The Great Adventure of an American Human Geneticist by Motulsky, Arno G, King, Mary-Claire

“…It is my great pleasure to have been asked by the Editorial Committee of the Annual Review of Genomics and Human Genetics to write a short autobiography of my…”
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Erythrokinetics: quantitative measurements of red cell production and destruction in normal subjects and patients with anemia by Giblett, Eloise R, Coleman, Daniel H, Pirzio-Biroli, Giacomo, Donohue, Dennis M, Motulsky, Arno G, Finch, Clement A

“…To study erythropoiesis and anemia, one must have a firm foundation of indices that accurately measure red blood cell production and destruction. This paper,…”
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Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia by Austin, Melissa A., Edwards, Karen L., Monks, Stephanie A., Koprowicz, Kent M., Brunzell, John D., Motulsky, Arno G., Mahaney, Michael C., Hixson, James E.

“…Small, dense LDLs and hypertriglyceridemia, two highly correlated and genetically influenced risk factors, are known to predict for risk of coronary heart…”
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Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: a 20-year prospective study by McNeely, Marguerite J, Edwards, Karen L, Marcovina, Santica M, Brunzell, John D, Motulsky, Arno G, Austin, Melissa A

“…In order to characterize the lipoprotein abnormalities in familial combined hyperlipidemia (FCHL) and to describe factors associated with the stability of the…”
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Priorities and standards in pharmacogenetic research by Need, Anna C, Motulsky, Arno G, Goldstein, David B

“…The current enthusiasm for pharmacogenetics draws much of its inspiration from the relatively few examples of polymorphisms that have marked and seemingly…”
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'Drug reactions, enzymes, and biochemical genetics': 50 years later by Gurwitz, David, Motulsky, Arno G

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PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity by Kim, Daniel Seung, Burt, Amber A, Ranchalis, Jane E, Vuletic, Simona, Vaisar, Tomas, Li, Wan-Fen, Rosenthal, Elisabeth A, Dong, Weijiang, Eintracht, Jason F, Motulsky, Arno G, Brunzell, John D, Albers, John J, Furlong, Clement E, Jarvik, Gail P

“…Recent studies have failed to demonstrate a causal cardioprotective effect of HDL cholesterol levels, shifting focus to the functional aspects of HDL…”
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A Quantitative Assessment of Plasma Homocysteine as a Risk Factor for Vascular Disease: Probable Benefits of Increasing Folic Acid Intakes by Boushey, Carol J, Beresford, Shirley A. A, Omenn, Gilbert S, Motulsky, Arno G

“…Objective.—To determine the risk of elevated total homocysteine (tHcy) levels for arteriosclerotic vascular disease, estimate the reduction of tHcy by folic…”
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PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity1[S] by Kim, Daniel Seung, Burt, Amber A., Ranchalis, Jane E., Vuletic, Simona, Vaisar, Tomas, Li, Wan-Fen, Rosenthal, Elisabeth A., Dong, Weijiang, Eintracht, Jason F., Motulsky, Arno G., Brunzell, John D., Albers, John J., Furlong, Clement E., Jarvik, Gail P.

“…Recent studies have failed to demonstrate a causal cardioprotective effect of HDL cholesterol levels, shifting focus to the functional aspects of HDL…”
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Human genetics. Mapping human history by King, Mary-Claire, Motulsky, Arno G

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