Brigitte van Oirschot

Biomolecular Mass Spectrometry and Proteomics Group, Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands.

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August 2016

Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.

Authors:

Pavla Koralkova Renata Mojzikova Brigitte van Oirschot Christine Macartney Pavel Timr Joan Lluis Vives Corrons Zuzana Striezencova Laluhova Katerina Lejhancova Vladimir Divoky Richard van Wijk

Blood Cells Mol Dis 2016 07 22;59:71-6. Epub 2016 Apr 22.

Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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July 2016

Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.

Authors:

Marije Bartels Marieke M van der Zalm Brigitte A van Oirschot Frank S Lee Rachel H Giles Marieke J H A Kruip Jerney J J M Gitz-Francois Wouter W Van Solinge Marc Bierings Richard van Wijk

Hum Mutat 2015 Nov 17;36(11):1039-42. Epub 2015 Aug 17.

Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, The Netherlands.

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November 2015

Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.

Authors:

Rob van Zwieten Brigitte A van Oirschot Martijn Veldthuis Johannes G Dobbe Geert J Streekstra Wouter W van Solinge Roger E G Schutgens Richard van Wijk

Am J Hematol 2015 Mar 24;90(3):E35-9. Epub 2014 Nov 24.

Laboratory of Red Blood Cell Diagnostics, Department of Blood Cell Research, Sanquin Blood Supply Foundation, Amsterdam, The Netherlands.

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March 2015

Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.

Authors:

Harry F Heijnen Richard van Wijk Tamara C Pereboom Yvonne J Goos Cor W Seinen Brigitte A van Oirschot Rowie van Dooren Marc Gastou Rachel H Giles Wouter van Solinge Taco W Kuijpers Hanna T Gazda Marc B Bierings Lydie Da Costa Alyson W MacInnes

PLoS Genet 2014 29;10(5):e1004371. Epub 2014 May 29.

Hubrecht Institute, KNAW and University Medical Center Utrecht, The Netherlands.

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December 2014

Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.

Authors:

Brigitte Antoinette van Oirschot Jerney Johanna Jeanette Maria Francois Wouter Willem van Solinge Annet Cornelia Wilhelmina van Wesel Gert Rijksen Hans Kristian Ploos van Amstel Richard van Wijk

Am J Hematol 2014 Apr 3;89(4):380-4. Epub 2014 Mar 3.

Department of Clinical Chemistry and Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.

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April 2014

Taxol(®)-induced phosphatidylserine exposure and microvesicle formation in red blood cells is mediated by its vehicle Cremophor(®) EL.

Authors:

Pieter Vader Marcel Ham Fens Nikoleta Sachini Brigitte A van Oirschot Grietje Andringa Antoine Cg Egberts Carlo Ajm Gaillard Jan T Rasmussen Richard van Wijk Wouter W van Solinge Raymond M Schiffelers

Nanomedicine (Lond) 2013 Jul 5;8(7):1127-35. Epub 2013 Feb 5.

Department of Clinical Chemistry & Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.

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July 2013

Glucose 6-phosphate dehydrogenase deficiency in an elite long-distance runner.

Authors:

Ayse Y Demir Wouter W van Solinge Brigitte van Oirschot Annet van Wesel Peter Vergouwen Erwin Thimister Kamiel Maase Gert Rijksen Roger Schutgens Richard van Wijk

Blood 2009 Feb;113(9):2118-9

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February 2009

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

Authors:

Richard van Wijk Eric G Huizinga Annet C W van Wesel Brigitte A van Oirschot Michael A Hadders Wouter W van Solinge

Hum Mutat 2009 Mar;30(3):446-53

Laboratory for Red Blood Cell Research, Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, The Netherlands.

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March 2009

Pyruvate kinase regulatory element 1 (PKR-RE1) mediates hexokinase gene expression in K562 cells.

Authors:

Karen M K de Vooght Richard van Wijk Brigitte A van Oirschot Gert Rijksen Wouter W van Solinge

Blood Cells Mol Dis 2005 Mar-Apr;34(2):186-90

Department of Clinical Chemistry, University Medical Center Utrecht, PO Box 85500, NL-3508 GA, Utrecht, The Netherlands.

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September 2005

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