Výsledky vyhledávání - "Janet Haasjes"

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

Autor: Janet Haasjes, Frédéric M. Vaz, Sacha Ferdinandusse, Merel S. Ebberink, Ronald J.A. Wanders, Jos P.N. Ruiter, W. Oostheim, Henk van Lenthe, Hans R. Waterham, Heleen te Brinke, Lodewijk IJlst

Publikováno v: Human Mutation
Human Mutation, 40(10), 1899-1904. Wiley-Liss Inc.
Human mutation, 40(10), 1899-1904. Wiley-Liss Inc.

Primary carnitine deficiency is caused by a defect in the active cellular uptake of carnitine by Na+‐dependent organic cation transporter novel 2 (OCTN2). Genetic diagnostic yield for this metabolic disorder has been relatively low, suggesting that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fcf2567494cda2778e173cc44b21149
http://europepmc.org/articles/PMC6790604

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Identification of PEX7 as the second gene involved in Refsum disease

Autor: Anthony S. Wierzbicki, Jacqueline de Belleroche, Daan M. van den Brink, Pedro Brites, Janet Haasjes, Hans R. Waterham, Michelle Lambert-Hamill, John Mitchell, Gerbert A. Jansen, Ronald J.A. Wanders

Publikováno v: Advances in experimental medicine and biology, 544, 69-70. Springer New York
American journal of human genetics, 72(2), 471-477. Cell Press
American Journal of Human Genetics, 72(2), 471-477. Cell Press

Patients affected with Refsum disease (RD) have elevated levels of phytanic acid due to a deficiency of the peroxisomal enzyme phytanoyl-CoA hydroxylase (PhyH). In most patients with RD, disease-causing mutations in the PHYH gene have been identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68699d28bb65172cb39c2f72b03030d6
https://doi.org/10.1086/346093

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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene

Autor: J. G. Maring, Dra Uges, A. B. P. Van Kuilenburg, E.G.E. de Vries, Janet Haasjes, A. H. van Gennip, H Piersma, Harry J.M. Groen

Publikováno v: British Journal of Cancer
British journal of cancer, 86(7), 1028-1033. Nature Publishing Group
British Jounal of Cancer, 86(7), 1028-1033. Nature Publishing Group

5-fluorouracil pharmacokinetics, dihydropyrimidine dehydrogenase-activity and DNA sequence analysis were compared between a patient with extreme 5-fluorouracil induced toxicity and six control patients with normal 5-fluorouracil related symptoms. Pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8ad070e851acf9a6902bfdb5428069
https://doi.org/10.1038/sj....bjc.6600208...

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Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Autor: Lisya Gerez, Pedro Brites, Rob Benne, Eveline M. Hogenhout, Janet Haasjes, Hans R. Waterham, Alison M Motley, Henk F. Tabak, Ronald J.A. Wanders

Publikováno v: American Journal of Human Genetics, 70, 612-624. Cell Press
American journal of human genetics, 70(3), 612-624. Cell Press

Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism that is clinically characterized by symmetrical shortening of the proximal long bones, cataracts, periarticular calcifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ad866f5ebb4adcb6194729f0beb5df
https://doi.org/10.1086/338998

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Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

Autor: Hermann Kalhoff, Guido Hein, Janet Haasjes, John A. Duley, Rutger Meinsma, George D Maropoulos, Holger Baaske, Doreen Dobritzsch, Hans R. Waterham, Ylva Lindqvist, Anne Aukett, Małgorzata J.M. Nowaczyk, Jean M Kirk, André B.P. van Kuilenburg, Albert H. van Gennip, Kate P Ward

Publikováno v: Biochemical journal, 364(Part 1), 157-163. Portland Press Ltd.

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria in homozygous deficient patients. Cancer patients with a partial deficiency of DPD are at risk of developing severe life-threatenin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4a4364f8a4e5e3786e635da249355a8
https://doi.org/10.1042/bj3640157

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Identification of PEX7 as the Second Gene Involved in Refsum Disease

Autor: John Mitchell, Ronald J.A. Wanders, Daan M. van den Brink, Janet Haasjes, Michelle Lambert-Hamill, Pedro Brites, Gerbert A. Jansen, Anthony S. Wierzbicki, Hans R. Waterham, Jacqueline de Belleroche

Publikováno v: Advances in Experimental Medicine and Biology ISBN: 9781461347828
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5185e25de55709ae705d143b25aa074
https://doi.org/10.1007/978-1-4419-9072-3_9

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Dihydropyrimidine Dehydrogenase Deficiency and 5-Fluorouracil Associated Toxicity

Autor: Peter Vreken, van Gennip Ah, Van Lenthe H, Zoetekouw L, Hans R. Waterham, Janet Haasjes, van Kuilenburg Ab

Publikováno v: Purine and Pyrimidine Metabolism in Man X ISBN: 9780306465154

Dihydropyrimidine dehydrogenase (DPD, EC 1.3.1.2) is responsible for the breakdown of the widely used chemotherapeutic agent 5-fluorouracil (5FU), thereby limiting the efficacy of the therapy. Because 5FU has a relative narrow therapeutic index, toxi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::297d2012f38ba1f4f82cedaff6e9e64d
https://doi.org/10.1007/0-306-46843-3_49

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Dihydropyrimidine Dehydrogenase (DPD) Deficiency: Novel Mutations in the DPD Gene

Autor: Rutger Meinsma, Janet Haasjes, Hans R. Waterham, André B.P. van Kuilenburg, Peter Vrelem, Alebrt H. Van Gennip

Publikováno v: Purine and Pyrimidine Metabolism in Man X ISBN: 9780306465154

Dihydropyrimidine dehydrogenase (DPD, EC 1.3.1.2) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases and it catalyzes the reduction of uracil and thymine to 5,6-dihydrouracil and 5,6-dihydrothymine, respectively. In chi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7ad3e630974b5c5f7dcea8c09b4eadc4
https://doi.org/10.1007/0-306-46843-3_48

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