Search Results - "Bosch, J.C."

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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An attenuated bovine herpesvirus 1 marker vaccine induces a better protection than two inactivated marker vaccines by Bosch, J.C., Kaashoek, M.J., Kroese, A.H., van Oirschot, J.T.

“…A comparative study on the efficacy of 3 bovine herpesvirus 1 (BHV1) marker vaccines was carried out. An attenuated gE-negative vaccine, an inactivated…”
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Inactivated bovine herpesvirus 1 marker vaccines are more efficacious in reducing virus excretion after reactivation than a live marker vaccine by Bosch, J.C., Kaashoek, M.J., van Oirschot, J.T.

“…A comparative study was carried out to evaluate the efficacy of three bovine herpesvirus 1 (BHV1) marker vaccines to reduce the reexcretion of virus after…”
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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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An inactivated gE-negative marker vaccine and an experimental gD-subunit vaccine reduce the incidence of bovine herpesvirus 1 infections in the field by Bosch, J.C., De Jong, M.C.M., Franken, P., Frankena, K., Hage, J.J., Kaashoek, M.J., Maris-Veldhuis, M.A., Noordhuizen, J.P.T.M., Van der Poel, W.H.M., Verhoeff, J., Weerdmeester, K., Zimmer, G.M., Van Oirschot, J.T.

“…An inactivated glycoprotein E-negative vaccine and an experimental glycoprotein D-subunit vaccine against bovine herpesvirus 1 (V1) were examined for their…”
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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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EPA enforcement, firm response strategies, and stockholder wealth: an empirical examination by Bosch, J.C., Eckard, E. Woodrow, Lee, Insup

“…We investigate the effect of EPA pollution control enforcement activities and firm response strategies on stockholders' wealth. We find that the market reacts…”
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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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Double blind field evaluation of a trivalent vaccine against respiratory disease in veal calves by Frankena, K, Klaassen, C H, Bosch, J C, van de Braak, A E, van de Haar, A G, van Tilburg, F C, Debouck, P

“…A field trial was performed to determine the effect of a trivalent vaccine on Clinical Respiratory Tract Problems (CRTP) in veal calves. The vaccine has been…”
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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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Cost-effectiveness analysis of an 18-week exercise programme for patients with breast and colon cancer undergoing adjuvant chemotherapy: the randomised PACT study by May, Anne M, Bosch, Marcel J C, Velthuis, Miranda J, van der Wall, Elsken, Steins Bisschop, Charlotte N, Los, Maartje, Erdkamp, Frans, Bloemendal, Haiko J, de Roos, Marnix A J, Verhaar, Marlies, ten Bokkel Huinink, Daan, Peeters, Petra H M, de Wit, G Ardine

“…ObjectiveMeta-analyses show that exercise interventions during cancer treatment reduce cancer-related fatigue. However, little is known about the…”
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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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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease by van den Bosch, B J C, Gerards, M, Sluiter, W, Stegmann, A P A, Jongen, E L C, Hellebrekers, D M E I, Oegema, R, Lambrichs, E H, Prokisch, H, Danhauser, K, Schoonderwoerd, K, de Coo, I F M, Smeets, H J M

“…Mitochondrial disorders are associated with abnormalities of the oxidative phosphorylation (OXPHOS) system and cause significant morbidity and mortality in the…”
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