Brigitte van Oirschot

Brigitte van Oirschot

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Brigitte van Oirschot

Brigitte van Oirschot

Publications by authors named "Brigitte van Oirschot"

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15Publications

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Methodological aspects of the oxygenscan in sickle cell disease: a need for standardization.

Authors:
Minke A E Rab Celeste K Kanne Jennifer Bos Camille Boisson Brigitte A van Oirschot Elie Nader Céline Renoux Philippe Joly Romain Fort Eduard J van Beers Vivien A Sheehan Richard van Wijk Philippe Connes

Am J Hematol 2019 Oct 7. Epub 2019 Oct 7.

Laboratory LIBM EA7424, University of Lyon 1, "Vascular Biology and Red Blood Cell" team, Lyon, France.

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http://dx.doi.org/10.1002/ajh.25655DOI Listing
October 2019

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

Authors:
Volkan Okur Megan T Cho Richard van Wijk Brigitte van Oirschot Jonathan Picker Stephanie A Coury Dorothy Grange Linda Manwaring Ian Krantz Colleen Clark Muraresku Peter J Hulick Holley May Eric Pierce Emily Place Kinga Bujakowska Aida Telegrafi Ganka Douglas Kristin G Monaghan Amber Begtrup Ashley Wilson Kyle Retterer Kwame Anyane-Yeboa Wendy K Chung

Eur J Hum Genet 2019 Jul 18;27(7):1081-1089. Epub 2019 Feb 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1038/s41431-019-0366-9DOI Listing
July 2019

Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients.

Authors:
Minke A E Rab Brigitte A van Oirschot Jennifer Bos Tesy H Merkx Annet C W van Wesel Osheiza Abdulmalik Martin K Safo Birgitta A Versluijs Maite E Houwing Marjon H Cnossen Jurgen Riedl Roger E G Schutgens Gerard Pasterkamp Marije Bartels Eduard J van Beers Richard van Wijk

Am J Hematol 2019 May 8;94(5):575-584. Epub 2019 Mar 8.

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

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http://doi.wiley.com/10.1002/ajh.25443
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http://dx.doi.org/10.1002/ajh.25443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518936PMC
May 2019

The fluid membrane determines mechanics of erythrocyte extracellular vesicles and is softened in hereditary spherocytosis.

Authors:
Daan Vorselen Susan M van Dommelen Raya Sorkin Melissa C Piontek Jürgen Schiller Sander T Döpp Sander A A Kooijmans Brigitte A van Oirschot Birgitta A Versluijs Marc B Bierings Richard van Wijk Raymond M Schiffelers Gijs J L Wuite Wouter H Roos

Nat Commun 2018 11 23;9(1):4960. Epub 2018 Nov 23.

Department of Physics and Astronomy and LaserLab, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41467-018-07445-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251882PMC
November 2018

Next-generation osmotic gradient ektacytometry for the diagnosis of hereditary spherocytosis: interlaboratory method validation and experience.

Authors:
Elena Lazarova Béatrice Gulbis Brigitte van Oirschot Richard van Wijk

Clin Chem Lab Med 2017 Mar;55(3):394-402

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https://www.degruyter.com/view/j/cclm.2017.55.issue-3/cclm-2
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http://dx.doi.org/10.1515/cclm-2016-0290DOI Listing
March 2017

Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients.

Authors:
Benjamin A Barasa Brigitte A van Oirschot Paola Bianchi Wouter W van Solinge Albert J R Heck Richard van Wijk Monique Slijper

Proteomics Clin Appl 2016 08;10(8):859-69

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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http://dx.doi.org/10.1002/prca.201500130DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S10799796163003
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http://dx.doi.org/10.1016/j.bcmd.2016.04.002DOI Listing
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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http://dx.doi.org/10.1002/humu.22846DOI Listing
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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http://dx.doi.org/10.1002/ajh.23899DOI Listing
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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http://dx.doi.org/10.1371/journal.pgen.1004371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038485PMC
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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http://dx.doi.org/10.1002/ajh.23647DOI Listing
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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http://dx.doi.org/10.2217/nnm.12.163DOI Listing
July 2013

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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http://doi.wiley.com/10.1002/humu.20915
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http://dx.doi.org/10.1002/humu.20915DOI Listing
March 2009

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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http://dx.doi.org/10.1182/blood-2008-12-194746DOI Listing
February 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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http://linkinghub.elsevier.com/retrieve/pii/S107997960400213
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http://dx.doi.org/10.1016/j.bcmd.2004.10.002DOI Listing
September 2005