Search Results - "van den Bosch, Bianca J.C."

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells by Otten, Auke B.C., Theunissen, Tom E.J., Derhaag, Josien G., Lambrichs, Ellen H., Boesten, Iris B.W., Winandy, Marie, van Montfoort, Aafke P.A., Tarbashevich, Katsiaryna, Raz, Erez, Gerards, Mike, Vanoevelen, Jo M., van den Bosch, Bianca J.C., Muller, Marc, Smeets, Hubert J.M.

“…We studied the mtDNA bottleneck in zebrafish to elucidate size, timing, and variation in germline and non-germline cells. Mature zebrafish oocytes contain, on…”
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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing by Theunissen, Tom E.J., MSc, Sallevelt, Suzanne C.E.H., MD, Hellebrekers, Debby M.E.I., PhD, de Koning, Bart, PhD, Hendrickx, Alexandra T.M., BASc, van den Bosch, Bianca J.C., PhD, Kamps, Rick, BASc, Schoonderwoerd, Kees, PhD, Szklarczyk, Radek, PhD, Mulder-Den Hartog, Elvira N.M., MSc, de Coo, Irenaeus F.M., MD, PhD, Smeets, Hubert J.M., PhD

“…Whole-exome sequencing identified multiple genetic causes in 2 infants with heterogeneous disease. Three gene defects in the first patient explained all…”
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Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time by Coenen, Marieke J.H., Paulussen, Aimée D.C., Breuer, Marc, Lindhout, Martijn, Tserpelis, Demis C.J., Steyls, Anja, Bierau, Jörgen, van den Bosch, Bianca J.C.

“…Fluoropyrimidine treatment can be optimized based on dihydropyrimidine dehydrogenase (DPD) activity. DPD dysfunction leads to increased exposure to active…”
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Cardiac Involvement in Adults With m.3243A>G MELAS Gene Mutation by Vydt, Tom C.G., MD, de Coo, René F.M., MD, PhD, Soliman, Osama I.I., MD, ten Cate, Folkert J., MD, PhD, van Geuns, Robert-Jan M., MD, PhD, Vletter, Wim B., BSc, Schoonderwoerd, Kees, PhD, van den Bosch, Bianca J.C., PhD, Smeets, Hubert J.M., PhD, Geleijnse, Marcel L., MD, PhD

“…Cardiac data in adults with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS syndrome) or asymptomatic gene carriers with the…”
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Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation by Van Der Loop, Frank T.L., Heidet, Laurence, Timmer, Erika D.J., Van Den Bosch, Bianca J.C., Leinonen, Anu, Antignac, Corinne, Jefferson, J. Ashley, Maxwell, A. Peter, Monnens, Leo A.H., Schröder, Cornelis H., Smeets, Hubert J.M.

“…Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Alport syndrome (AS) is a clinically and genetically heterogeneous renal disorder,…”
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Pharmacogenetics of inflammatory bowel disease by van den Bosch, Bianca Jc, Coenen, Marieke Jh

“…Patients with inflammatory bowel disease (IBD) show large variability in disease course, and also treatment response. The variability in treatment response has…”
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Dosage of 6-Mercaptopurine in Relation to Genetic TPMT and ITPA Variants: Toward Individualized Pediatric Acute Lymphoblastic Leukemia Maintenance Treatment by Kouwenberg, Theodorus W., van den Bosch, Bianca J.C., Bierau, Jörgen, te Loo, Dunja Maroeska W.M., Coenen, Marieke J.H., Hagleitner, Melanie M.

“…6-mercaptopurine (6-MP) is the mainstay in pediatric acute lymphoblastic leukemia (ALL) maintenance treatment. Variants in genes coding for thiopurine S-methyl…”
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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene by GERARDS, Mike, VAN DEN BOSCH, Bianca J. C, PROKISCH, Holger, RÖTIG, Agnès, DE COO, Irenaeus F. M, SMELTS, Hubert J. M, DANHAUSER, Katharina, SERRE, Valérie, VAN WEEGHEL, Michel, WANDERS, Ronald J. A, NICOLAES, Gerry A. F, SLUITER, Wim, SCHOONDERWOERD, Kees, SCHOLTE, Hans R

“…Mitochondrial complex I deficiency is the most common oxidative phosphorylation defect. Mutations have been detected in mitochondrial and nuclear genes, but…”
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Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity by Peltenburg, N Chantal, Bierau, Jörgen, Schippers, Jolanda A, Lowe, Selwyn H, Paulussen, Aimée D C, van den Bosch, Bianca J C, Leers, Mathie P G, Andrinopoulou, Eleni-Rosalina, Bakker, Jaap A, Verbon, Annelies

“…Abstract Objectives Abacavir use has been associated with an increased risk of cardiovascular disease (CVD) and metabolic events in HIV-infected patients,…”
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Potential added value of combined DPYD/DPD genotyping and phenotyping to prevent severe toxicity in patients with a DPYD variant and decreased dihydropyrimidine dehydrogenase enzyme activity by Ockeloen, Charlotte W, Raaijmakers, Aron, Hijmans-van der Vegt, Manon, Bierau, Jörgen, de Vos-Geelen, Judith, Willemsen, Annelieke ECAB, van den Bosch, Bianca JC, Coenen, Marieke JH

“…Decreased dihydropyrimidine dehydrogenase enzyme activity is associated with severe fluoropyrimidine-associated toxicity. Four clinically relevant variants in…”
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Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV by Peltenburg, N Chantal, Bierau, Jörgen, Bakker, Jaap A, Schippers, Jolanda A, Lowe, Selwyn H, Paulussen, Aimée D C, van den Bosch, Bianca J C, Leers, Mathie P G, Hansen, Bettina E, Verbon, Annelies

“…The purine analogues tenofovir and abacavir are precursors of potential substrates for the enzyme Inosine 5'-triphosphate pyrophosphohydrolase (ITPase). Here,…”
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Implications of Tioguanine Dosing in IBD Patients with a TPMT Deficiency by Deben, Debbie S, Derijks, Luc J. J, van den Bosch, Bianca J. C, Creemers, Rob H, van Nunen, Annick, van Bodegraven, Adriaan A, Wong, Dennis R

“…Tioguanine is metabolised by fewer enzymatic steps compared to azathioprine and mercaptopurine, without generating 6-methylmercaptopurine ribonucleotides…”
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Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy by Peltenburg, N Chantal, Leers, Mathie P G, Bakker, Jaap A, Lowe, Selwyn H, Vroemen, Wim H M, Paulussen, Aimée D C, van den Bosch, Bianca J C, Bierau, Jörgen, Verbon, Annelies

“…In HIV-infected patients, the enzyme Inosine triphosphate pyrophosphohydrolase (ITPase), involved in purine nucleotide homeostasis, was found to be decreased…”
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Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice by VAN DEN BOSCH, Bianca J. C, VAN DEN BURG, Caroline M. M, SCHOONDERWOERD, Kees, LINDSEY, Patrick J, SCHOLTE, Hans R, DE COO, René F. M, VAN ROOIJ, Eva, ROCKMAN, Howard A, DOEVENDANS, Pieter A, SMEETS, Hubert J. M

“…Defects in myocardial mitochondrial structure and function have been associated with heart failure in humans and animal models. Mice lacking the muscle LIM…”
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123 Defective Complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome by de Coo, Irenaeus F.M., Gerards, Mike, Sluiter, Willem, van den Bosch, Bianca J.C., Frentzen, Margrit, Schoonderwoerd, Kees C., Smeets, Hubert J.M.

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Identifying sequence variants in the human mitochondrial genome using high resolution melt (HRM) profiling by Dobrowolski, Steven F., Hendrickx, Alexandra T.M., van den Bosch, Bianca J.C., Smeets, Hubert J.M., Gray, Jesse, Miller, Trent, Sears, Mitch

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Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography by van Den Bosch, B J, de Coo, R F, Scholte, H R, Nijland, J G, van Den Bogaard, R, de Visser, M, de Die-Smulders, C E, Smeets, H J

“…In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most…”
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