Search Results - "van de Sluis, B"

Identification of a new copper metabolism gene by positional cloning in a purebred dog population by VAN DE SLUIS, Bart, ROTHUIZEN, Jan, PEARSON, Peter L, VAN OOST, Bernard A, WIJMENGA, Cisca

“…Domesticated animal species such as dogs and cats, with their many different characteristics and breed-specific diseases, and their close relationship and…”
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Many Faces of the Copper Metabolism Protein MURR1/COMMD1 by Bie, P. de, Sluis, B. van de, Klomp, L, Wijmenga, C

“…Copper is an essential transition metal but is toxic in excess; therefore, its metabolism needs to be tightly regulated. Defects in the regulation of copper…”
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Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia by Nakladal, D., Lambooy, S. P. H., Mišúth, S., Čepcová, D., Joschko, C. P., Buiten, A., Goris, M., Hoogstra‐Berends, F., Kloosterhuis, N. J., Huijkman, N., Sluis, B., Diercks, G. F., Buikema, J. H., Henning, R. H., Deelman, L. E.

“…Deficiencies in Cystathionine‐β‐synthase (CBS) lead to hyperhomocysteinemia (HHCy), which is considered a risk factor for cardiovascular, bone and neurological…”
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Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers by Forman, O.P, Boursnell, M.E.G, Dunmore, B.J, Stendall, N, Sluis, B. van de, Fretwell, N, Jones, C, Wijmenga, C, Rothuizen, J, Oost, B.A. van

“…Copper toxicosis is an autosomal recessive disorder affecting Bedlington terriers, characterized by elevated liver copper levels and early death of affected…”
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Indirect molecular diagnosis of copper toxicosis in Bedlington terriers is complicated by haplotype diversity by Sluis, B. van de, Peter, A.T, Wijmenga, C

“…Positional cloning recently identified the mutation causing copper toxicosis (CT) in Bedlington terriers. Isolation of the MURR1 gene will be of great value in…”
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Genetic Mapping of the Copper Toxicosis Locus in Bedlington Terriers to Dog Chromosome 10, in a Region Syntenic to Human Chromosome Region 2p13–p16 by van de Sluis, Bart J. A., Breen, Matthew, Nanji, Manoj, van Wolferen, Monique, de Jong, Pieter, Binns, Matthew M., Pearson, Peter L., Kuipers, Jeroen, Rothuizen, Jan, Cox, Diane W., Wijmenga, Cisca, van Oost, Bernard A.

“…Abnormal hepatic copper accumulation is recognized as an inherited disorder in man, mouse, rat and dog. The major cause of hepatic copper accumulation in man…”
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A cargo-specific role for hepatocyte retriever in lipoprotein receptor recycling by Vos, D.Y., Smit, M., Huijkman, N., Kloosterhuis, N., Wolters, K., Kuivenhoven, J.A., Van De Sluis, B.

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GPR146 and HDL metabolism by Zhang, B., Mathada, U. Tharehalli, Loaiza, N., Martinez, L., Huijkman, N., Smit, M., Kloosterhuis, N., Van De Sluis, B., Kuivenhoven, J.A.

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Prevention of atherosclerosis and hepatic steatosis by combined, liver-specific deletion of GPR146 and ANGPTL3 by Mathada, U. Tharehalli, Rimbert, A., Zhang, B., Kloosterhuis, N., Huijkman, N., Smit, M., Gerding, A., Van De Sluis, B., Kuivenhoven, J.A.

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A novel gene affecting VLDL assembly/secretion by Van Zwol, W., Rimbert, A., Wolters, K., Larsen, L., Huijkman, N., Kloosterhuis, N., Van De Sluis, B., Zimmermann, P., Kuivenhoven, J.A.

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Hepatic SMLR1 ablation fully protects against diet-induced atherosclerosis but causes hepatosteatosis via reduced VLDL secretion by Van Zwol, W., Rimbert, A., Wolters, J.C., Bloks, V., Kloosterhuis, N.J., Huijkman, N., Smit, M., Heeren, J., Scheja, L., Bournez, C.T., Kuipers, J., Rajan, S., Hussain, M., Zimmerman, P., Van De Sluis, B., Kuivenhoven, J.

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The endosomal sorting protein VPS35 controls lipid homeostasis through regulating hepatic lysosomal function by Vos, D.Y., Heida, A., Koster, M., Tissink, J., Kuentzel, K.B., Kloosterhuis, N.J., Smit, M., Huijkman, N., Reggiori, F., Mari, M., Scheja, L., Heeren, J., Kratky, D., Kuivenhoven, J., Van De Sluis, B.

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Rare GPR146 variants and their impact in the regulation of plasma lipid levels by Velasquez, N. Loaiza, Rimbert, A., Dalila, N., Oldoni, F., Balder, J.W., Huijkman, N., Tybjærg-Hansen, A., Van De Sluis, B., Kuivenhoven, J.A.

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The Parkinson’s Disease Gene Vps35 Regulates Plasma Ldl Cholesterol Levels In A Ccc/Wash-Dependent Manner by Vos, D., Wijers, M., Smit, M., Huijkman, N., Kloosterhuis, N., Wolters, K., Kuivenhoven, J.A., van de Sluis, B.

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GPR146 gene variants are associated with reduced plasma lipids and cardiovascular health: A novel role for GPR146 in hypolipidemia by Rimbert, A., Yeung, M., Dalila, N., Yu, H., Loaiza, N., Oldoni, F., Van Der Graaf, A., Wang, S., Said, A., Blauw, L., Girardeau, A., Bray, L., Caillaud, A., Bloks, V., Marrec, M., Moulin, P., Rensen, P., Van De Sluis, B., Snieder, H., Di Filippo, M., Van Der Harst, P., Tybjærg-Hansen, A., Zimmerman, P., Cariou, B., Kuivenhoven, J.

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Non-Indian childhood cirrhosis by Müller, T, van de Sluis, B, Müller, W, Pearson, P, Wijmenga, C

“…Copper is an essential trace element for sustaining life. However, copper in excess is highly toxic and elevated copper concentrations in cells have been…”
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A Human-Like Composition Of The Circulating Bile Acid Pool Impacts On Plasma Ldl Cholesterol In Mice by De Boer, J.F., de Vries, H.D., Palmiotti, A., Li, R., Mulder, N.L., Hovingh, M.V., Koehorst, M., Kloosterhuis, N.J., Bloks, V.W., van de Sluis, B., Kuipers, F.

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A Common Variant In Ccdc93 Decreases Ldl-C And Protects Against Myocardial Infarction By Regulating Endosomal Trafficking Of Ldl-Receptor by Rimbert, A., Dalila, N., Wolters, J., Huijkman, N., Smit, M., Kloosterhuis, N., Riemsma, M., van der Veen, Y., Singla, A., van Dijk, F., Frikke-Schmidt, R., Burtsein, E., Tybjaerg-Hansen, T.H., van de Sluis, B., Kuivenhoven, J.A.

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Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile by Rimbert, Antoine, Yeung, Ming W., Dalila, Nawar, Thio, Chris H.L., Yu, Haojie, Loaiza, Natalia, Oldoni, Federico, van der Graaf, Adriaan, Wang, Siqi, Said, M. Abdullah, Blauw, Lisanne L., Girardeau, Aurore, Bray, Lise, Caillaud, Amandine, Bloks, Vincent W., Marrec, Marie, Moulin, Philippe, Rensen, Patrick C.N., van de Sluis, Bart, Snieder, Harold, Di Filippo, Mathilde, van der Harst, Pim, Tybjaerg-Hansen, Anne, Zimmerman, Philip, Cariou, Bertrand, Kuivenhoven, Jan Albert

“…In mice, GPR146 (G-protein-coupled receptor 146) deficiency reduces plasma lipids and protects against atherosclerosis. Whether these findings translate to…”
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The U2-spliceosome and its interactors regulate the levels and activity of the LDL receptor in humans by Zanoni, P., Panteloglou, G., Othman, A., Haas, J.T., Meier, R., Rimbert, A., Futema, M., Khalil, Y. Abou, Norrelykke, S.F., Rzepiela, A.J., Stoma, S., Stebler, M., Van Dijk, F., Wijers, M., Wolters, J.C., Dalila, N., Huijkman, N., Smit, M., Gallo, A., Carreau, V., Philippi, A., Rabès, J.-P., Boileau, C., Visentin, M., Vonghia, L., Weyler, J., Francque, S.M., Verrijken, A., Verhaegen, A., Van Gaal, L., Van Der Graaf, A., Van Rosmalen, B.V., Velagapudi, S., Yalcinkaya, M., Keel, M., Radosavljevic, S., Geier, A., Tybjærg-Hansen, A., Varret, M., Rohrer, L., Humphries, S.E., Staels, B., Van De Sluis, B., Kuivenhoven, J.A., Von Eckardstein, A.

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