Search Results - "Schaefer, R. J."

Predicted genetic burden and frequency of phenotype-associated variants in the horse by Durward-Akhurst, S. A., Marlowe, J. L., Schaefer, R. J., Springer, K., Grantham, B., Carey, W. K., Bellone, R. R., Mickelson, J. R., McCue, M. E.

“…Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification…”
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Genetic Variation and the Distribution of Variant Types in the Horse by Durward-Akhurst, S A, Schaefer, R J, Grantham, B, Carey, W K, Mickelson, J R, McCue, M E

“…Genetic variation is a key contributor to health and disease. Understanding the link between an individual's genotype and the corresponding phenotype is a…”
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Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia by Kotzka, Jorg, Knebel, Birgit, Janssen, Onno E, Schaefer, J.R, Soufi, M, Jacob, Sylvia, Nitzgen, Ulrike, Muller-Wieland, Dirk

“…Abstract Objective Alterations of lipid metabolism play a pivotal role in the development of atherosclerosis and its complications, today's major mortality…”
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The convergence-fault mechanism for low-angle boundary formation in single-crystal castings by NAPOLITANO, R. E, SCHAEFER, R. J

“…A set of nickel-based superalloy single-crystal investment castings was evaluated for crystal perfection. Defect structures near the seed emergence point and…”
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Novel aspects on RANK ligand and osteoprotegerin in osteoporosis and vascular disease by Sattler, A M, Schoppet, M, Schaefer, J R, Hofbauer, L C

“…The clinical coincidence of osteoporosis and vascular disease has long indicated that common mediators may adversely affect bone metabolism and vascular…”
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Metabolic basis of high density lipoproteins and apolipoprotein A-I increase by HMG-CoA reductase inhibition in healthy subjects and a patient with coronary artery disease by Schaefer, J.R., Schweer, H., Ikewaki, K., Stracke, H., Seyberth, H.J., Kaffarnik, H., Maisch, B., Steinmetz, A.

“…HMG-CoA reductase inhibitors, such as pravastatin, are widely used as lipid lowering drugs in hypercholesterolemia. Pravastatin does not only reduce the…”
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Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy by Peters, V, Penzien, J M, Reiter, G, Körner, C, Hackler, R, Assmann, B, Fang, J, Schaefer, J R, Hoffmann, G F, Heidemann, P H

“…A 1.5-year-old boy with macrocephaly due to a Dandy-Walker malformation presented with progressive hydrocephalus, extensive muscular hypotonia, transient…”
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HDL level or HDL function as the primary target in preventive cardiology by Schaefer, J R

“…The risk for myocardial infarction can be reduced by almost 50% solely by lowering LDL cholesterol. Despite success reducing LDL and cholesterol,…”
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In vivo turnover study demonstrates diminished clearance of lipoprotein(a) in hemodialysis patients by Frischmann, M.E., Kronenberg, F., Trenkwalder, E., Schaefer, J.R., Schweer, H., Dieplinger, B., Koenig, P., Ikewaki, K., Dieplinger, H.

“…Lipoprotein(a) (Lp(a)) consists of a low-density lipoprotein-like particle and a covalently linked highly glycosylated protein, called apolipoprotein(a)…”
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Delayed catabolism of high density lipoprotein apolipoproteins A-I and A-II in human cholesteryl ester transfer protein deficiency by IKEWAKI, K, RADER, D. J, NAGANO, M, BREWER, H. B, SAKAMOTO, T, NISHIWAKI, M, WAKIMOTO, N, SCHAEFER, J. R, ISHIKAWA, T, FAIRWELL, T, ZECH, L. A, NAKAMURA, H

“…Deficiency of the cholesteryl ester transfer protein (CETP) in humans is characterized by markedly elevated plasma concentrations of HDL cholesterol and…”
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Evaluation of apoA-I kinetics in humans using simultaneous endogenous stable isotope and exogenous radiotracer methods by IKEWAKI, K, RADER, D. J, SCHAEFER, J. R, FAIRWELL, T, ZECH, L. A, BREWER, H. B

“…Apolipoprotein A-I is the major apolipoprotein constituent of high density lipoproteins (HDL). Methods used to investigate in vivo kinetics of apoA-I include…”
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Analytical and numerical predictions of dendritic grain envelopes by Gandin, Ch.-A., Schaefer, R.J., Rappax, M.

“…An analytical model is developed for the prediction of the shape of dendritic grain envelopes during solidification of a metallic alloy in a Bridgman…”
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A new case of CDG‐x with stereotyped dystonic hand movements and optic atrophy by Prietsch, V., Peters, V., Hackler, R., Jakobi, R., Assmann, B., Fang, J., Körner, C., Helwig‐Rolig, A., Schaefer, J. R., Hoffmann, G. F.

“…We report the clinical findings and the diagnostic work‐up of a 17‐month‐old girl with CDG‐x. Predominant clinical signs were, besides psychomotor retardation…”
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Increased Production of HDL ApoA-I in Homozygous Familial Defective ApoB-100 by Schaefer, J R, Winkler, K, Schweer, H, Hoffmann, M M, Soufi, M, Scharnagl, H, Maisch, B, Wieland, H, Steinmetz, A, März, W

“…Familial defective apolipoprotein (apo) B-100 (FDB) is a frequent cause of hypercholesterolemia. Hypercholesterolemia in homozygous FDB is less severe than in…”
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Homozygous familial hypercholesterolaemia in identical twins by Zschocke, J, Schaefer, JR

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Cardiotoxicity of 5-fluorouracil by Alter, P, Herzum, M, Soufi, M, Schaefer, J R, Maisch, B

“…Cardiac side effects of the cytostatic agent 5-fluorouracil (5-FU) have an incidence of 1.2-7.6%. Potentially, arrhythmias, myocardial infarction and sudden…”
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HDL steady state levels are not affected, but HDL apoA-I turnover is enhanced by Lifibrol in patients with hypercholesterolemia and mixed hyperlipidemia by Winkler, K., Schaefer, J.R., Klima, B., Nuber, C., Friedrich, I., Köster, W., Gierens, H., Scharnagl, H., Soufi, M., Wieland, H., März, W.

“…Lifibrol (4-(4′-tert-butylphenyl)-1-(4′carboxyphenoxy)-2-butanol) is a new hypocholesterolemic drug effectively reducing total cholesterol, LDL cholesterol,…”
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Unsaturated fatty acids isolated from human lipoproteins activate protein phosphatase type 2Cβ and induce apoptosis in endothelial cells by Hufnagel, B., Dworak, M., Soufi, M., Mester, Z., Zhu, Y., Schaefer, J.R., Klumpp, S., Krieglstein, J.

“…Activity of serine/threonine protein phosphatase type 2C is known to be stimulated by certain unsaturated fatty acids and this enzyme dephosphorylates Bad,…”
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A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations by Assmann, B, Hackler, R, Peters, V, Schaefer, J R, Arndt, T, Mayatepek, E, Jaeken, J, Hoffmann, G F

“…A boy with an unspecific symptomatology consisting of mental retardation, strabismus, hypotonia and mild ataxia was diagnosed with a congenital disorder of…”
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An X-linked gene involved in androgenetic alopecia: a lesson to be learned from adrenoleukodystrophy by König, A, Happle, R, Tchitcherina, E, Schaefer, J R, Sokolowski, P, Köhler, W, Hoffmann, R

“…Adrenoleukodystrophy (ALD), including its adult variant adrenomyeloneuropathy (AMN), is an X-linked recessive trait characterized by progressive…”
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