Searched for: subject:"Mutation"
(1 - 20 of 127)

Pages

document
Honig, J.J. (author), Everts, M.H. (author), Huisman, M. (author)
Solidity smart contracts operate in a hostile environment, which introduces the need for the adequate application of testing techniques to ensure mitigation of the risk of a security incident. Mutation testing is one such technique. It allows for the evaluation of the efficiency of a test suite in detecting faults in a program, allowing...
conference paper 2019
document
Tans, R. (author), van Diepen, J.A. (author), Bijlsma, S. (author), Verschuren, L. (author), Suppers, A. (author), Stienstra, R. (author), Wevers, R.A. (author), Tack, C.J. (author), Gloerich, J. (author), van Gool, A.J. (author)
Background: Overweight and obesity can lead to adipose tissue inflammation, which causes insulin resistance and on the long-term type 2 diabetes mellitus (T2D). The inflammatory changes of obese-adipose tissue are characterized by macrophage infiltration and activation, but validated circulating biomarkers for adipose tissue inflammation for...
article 2019
document
Terhal, P.A. (author), Nievelstein, R.J.A.J. (author), Verver, E.J.J. (author), Topsakal, V. (author), van Dommelen, P. (author), Hoornaert, K. (author), le Merrer, M. (author), Zankl, A. (author), Simon, M.E. (author), Smithson, S.F. (author), Marcelis, C. (author), Kerr, B. (author), Clayton-Smith, J. (author), Kinning, E. (author), Mansour, S. (author), Elmslie, F. (author), Goodwin, L. (author), van der Hout, A.H. (author), Veenstra-Knol, H.E. (author), Herkert, J.C. (author), Lund, A.M. (author), Hennekam, R.C. (author), Mégarbané, A. (author), Lees, M.M. (author), Wilson, L.C. (author), Male, A. (author), Hurst, J. (author), Alanay, Y. (author), Annerén, G. (author), Betz, R.C. (author), Bongers, E.M. (author), Cormier-Daire, V. (author), Dieux, A. (author), David, A. (author), Elting, M.W. (author), van den Ende, J. (author), Green, A. (author), van Hagen, J.M. (author), Hertel, N.T. (author), Holder-Espinasse, M. (author), den Hollander, N. (author), Homfray, T. (author), Hove, H.D. (author), Price, S. (author), Raas-Rothschild, A. (author), Rohrbach, M. (author), Schroeter, B. (author), Suri, M. (author), Thompson, E.M. (author), Tobias, E.S. (author), Toutain, A. (author), Vreeburg, M. (author), Wakeling, E. (author), Knoers, N.V. (author), Coucke, P. (author), Mortier, G.R. (author)
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with...
article 2015
document
Grinberg, M. (author), Stöber, R.M. (author), Edlund, K. (author), Rempel, E. (author), Godoy, P. (author), Reif, R. (author), Widera, A. (author), Madjar, K. (author), Schmidt-Heck, W. (author), Marchan, R. (author), Sachinidis, A. (author), Spitkovsky, D. (author), Hescheler, J. (author), Carmo, H. (author), Arbo, M.D. (author), van de Water, B. (author), Wink, S. (author), Vinken, M. (author), Rogiers, V. (author), Escher, S. (author), Hardy, B. (author), Mitic, D. (author), Myatt, G. (author), Waldmann, T. (author), Mardinoglu, A. (author), Damm, G. (author), Seehofer, D. (author), Nüssler, A. (author), Weiss, T.S. (author), Oberemm, A. (author), Lampen, A. (author), Schaap, M.M. (author), Luijten, M. (author), van Steeg, H. (author), Thasler, W.E. (author), Kleinjans, J.C.S. (author), Stierum, R.H. (author), Leist, M. (author), Rahnenführer, J. (author), Hengstler, J.G. (author)
A long-term goal of numerous research projects is to identify biomarkers for in vitro systems predicting toxicity in vivo. Often, transcriptomics data are used to identify candidates for further evaluation. However, a systematic directory summarizing key features of chemically influenced genes in human hepatocytes is not yet available. To bridge...
article 2014
document
Terhal, P.A. (author), van Dommelen, P. (author), Le Merrer, M. (author), Zankl, A. (author), Simon, M.E. (author), Smithson, S.F. (author), Marcelis, C. (author), Kerr, B. (author), Kinning, E. (author), Mansour, S. (author), Hennekam, R.C. (author), van der Hout, A.H. (author), Cormier-Daire, V. (author), Lund, A.M. (author), Goodwin, L. (author), Mégarbané, A. (author), Lees, M. (author), Betz, R.C. (author), Tobias, E.S. (author), Coucke, P. (author), Mortier, G.R. (author)
From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple...
article 2012
document
van de Pas, N.C.A. (author), Woutersen, R.A. (author), van Ommen, B. (author), Rietjens, I.M.C.M. (author), de Graaf, A.A. (author)
Increased plasma cholesterol concentration is associated with increased risk of cardiovascular disease. This study describes the development, validation, and analysis of a physiologically based kinetic (PBK) model for the prediction of plasma cholesterol concentrations in humans. This model was directly adapted from a PBK model for mice by...
article 2012
document
Smits, K.M. (author), Schouten, L.J. (author), Hudak, E. (author), Verhage, B. (author), van Dijk, B.A.C. (author), van de Hulsbergen - Kaa, C.A. (author), Goldbohm, R.A. (author), Oosterwijk, E. (author), van den Brandt, P.A. (author), TNO Kwaliteit van Leven (author)
Purpose: Body mass index (BMI) is an important risk factor for clear-cell renal cancer (cc-RCC). A common molecular alteration in cc-RCC is loss-of-function of the von Hippel-Lindau (VHL) gene. We evaluated the association between BMI and VHL mutations in cc-RCC by using data from the Netherlands Cohort Study (NLCS), a prospective study, which...
article 2010
document
Henneman, P. (author), van der Sman-de Beer, F. (author), Moghaddam, P.H. (author), Huijts, P. (author), Stalenhoef, A.F.H. (author), Kastelein, J.J.P. (author), van Duijn, C.M. (author), Havekes, L.M. (author), Frants, R.R. (author), van Dijk, K.W. (author), Smelt, A.H.M. (author), TNO Kwaliteit van Leven (author)
Type III hyperlipoproteinemia (HLP) is mainly found in homozygous apolipoprotein (APO) E2 (R158C) carriers. Genetic factors contributing to the expression of type III HLP were investigated in 113 hyper- and 52 normolipidemic E2/2 subjects, by testing for polymorphisms in APOC3, APOA5, HL (hepatic lipase) and LPL (lipoprotein lipase) genes. In...
article 2009
document
Stone, O.A. (author), Richer, C. (author), Emanueli, C. (author), van Weel, V. (author), Quax, P.H.A. (author), Katare, R. (author), Kraenkel, N. (author), Campagnolo, P. (author), Barcelos, L.S. (author), Siragusa, M. (author), Sala-Newby, G.B. (author), Baldessari, D. (author), Mione, M. (author), Vincent, M.P. (author), Benest, A.V. (author), Al Haj Zen, A. (author), Gonzalez, J. (author), Bates, D.O. (author), Alhenc-Gelas, F. (author), Madeddu, P. (author), TNO Kwaliteit van Leven (author)
OBJECTIVE : Human Tissue Kallikrein (hKLK1) overexpression promotes an enduring neovascularization of ischemic tissue, yet the cellular mechanisms of hKLK1-induced arteriogenesis remain unknown. Furthermore, no previous study has compared the angiogenic potency of hKLK1, with its loss of function polymorphic variant, rs5515 (R53H), which...
article 2009
document
Ponstein-Simarro Doorten, A.Y. (author), van de Wiel, J.A.G. (author), Jonker, D. (author), TNO Kwaliteit van Leven (author)
Tensguard™ is a milk protein hydrolysate containing the lactotripeptide IPP. It is derived from cow's milk, which is present in the human diet and has a safe history of consumption. The final Tensguard™ product, a supplement or a functional food ingredient, is intended for use by people who want to follow a healthy diet and lifestyle in order to...
article 2009
document
Wierckx, N. (author), Ruijssenaars, H.J. (author), de Winde, J.H. (author), Schmid, A. (author), Blank, L.M. (author), TNO Kwaliteit van Leven (author)
The physiological effects of genetic and transcriptional changes observed in a phenol producing mutant of the solvent-tolerant Pseudomonas putida S12 were assessed with metabolic flux analysis. The upregulation of a malate/lactate dehydrogenase encoding gene could be connected to a flux increase from malate to oxaloacetate. A mutation in the...
article 2009
document
van der Hoorn, J.W.A. (author), Jukema, J.W. (author), Havekes, L.M. (author), Lundholm, E. (author), Camejo, G. (author), Rensen, P.C.N. (author), Princen, H.M.G. (author), TNO Kwaliteit van Leven (author)
Background and purpose: We have evaluated the effects of a peroxisome proliferator-activated receptor (PPAR)α/γ agonist on the progression of pre-existing atherosclerotic lesions in APOE*3Leiden.cholesteryl ester transfer protein (E3L.CETP) transgenic mice. Experimental approach: E3L.CETP mice were fed a high-cholesterol diet for 11 weeks to...
article 2009
document
Weelink, S.A.B. (author), Tan, N.C.G. (author), ten Broeke, H. (author), van den Kieboom, C. (author), van Doesburg, W. (author), Langenhoff, A.A.M. (author), Gerritse, J. (author), Junca, H. (author), Stams, A.J.M. (author), TNO Bouw en Ondergrond (author)
A bacterium, strain BC, was isolated from a benzene-degrading chlorate-reducing enrichment culture. Strain BC degrades benzene in conjunction with chlorate reduction. Cells of strain BC are short rods that are 0.6 μm wide and 1 to 2 μm long, are motile, and stain gram negative. Strain BC grows on benzene and some other aromatic compounds with...
article 2008
document
Hu, C. (author), van Dommelen, J. (author), van der Heijden, R. (author), Spijksma, G. (author), Reijmers, T.H. (author), Wang, M. (author), Slee, E. (author), Lu, X. (author), Xu, G. (author), van der Greef, J. (author), Hankemeier, T. (author), TNO Kwaliteit van Leven (author)
A reversed-phase liquid chromatography-linear ion trap-Fourier transform ion cyclotron resonance-mass spectrometry method was developed for the profiling of lipids in human and mouse plasma. With the use of a fused-core C<sub>8</sub> column and a binary gradient, more than 160 lipids belonging to eight different classes were detected in a single...
article 2008
document
Damveld, R.A. (author), Franken, A. (author), Arentshorst, M. (author), Punt, P.J. (author), Klis, F.M. (author), van den Hondel, C.A.M.J.J. (author), Ram, A.F.J. (author), TNO Kwaliteit van Leven (author)
To identify cell wall biosynthetic genes in filamentous fungi and thus potential targets for the discovery of new antifungals, we developed a novel screening method for cell wall mutants. It is based on our earlier observation that the Aspergillus niger agsA gene, which encodes a putative a-glucan synthase, is strongly induced in response to...
article 2008
document
Wierckx, N.J.P. (author), Ballerstedt, H. (author), de Bont, J.A.M. (author), de Winde, J.H. (author), Ruijssenaars, H.J. (author), Wery, J. (author), TNO Kwaliteit van Leven (author)
The unknown genetic basis for improved phenol production by a recombinant Pseudomonas putida S12 derivative bearing the tpl (tyrosine-phenol lyase) gene was investigated via comparative transcriptomics, nucleotide sequence analysis, and targeted gene disruption. We show upregulation of tyrosine biosynthetic genes and possibly decreased...
article 2008
document
de Vogel, S. (author), Bongaerts, B.W.C. (author), Wouters, K.A.D. (author), Kester, A.D.M. (author), Schouten, L.J. (author), de Goeij, A.F.P.M. (author), de Bruïne, A.P. (author), Goldbohm, R.A. (author), van den Brandt, P.A. (author), van Engeland, M. (author), Weijenberg, M.P. (author), TNO Kwaliteit van Leven (author)
Intake of dietary factors that serve as methyl group donors may influence promoter hypermethylation in colorectal carcinogenesis. We investigated whether dietary folate, vitamin B2 and vitamin B6, methionine and alcohol were associated with mutL homologue 1 (MLH1) hypermethylation and the related molecular phenotypes of MLH1 protein expression,...
article 2008
document
Schouten, L.J. (author), van Dijk, B.A.C. (author), Oosterwijk, E. (author), van Engeland, M. (author), van de Hulsbergen-Kaa, C.A. (author), Kiemeney, L.A.L.M. (author), Goldbohm, R.A. (author), Kester, A. (author), de Vogel, S. (author), Schalken, J.A. (author), van den Brandt, P.A. (author), TNO Kwaliteit van Leven (author)
Alcohol consumption has been associated with a decreased risk for renal cell cancer in several studies. We investigated whether alcohol is associated with (epi)genetic changes of the von Hippel-Lindau (VHL) gene in renal cell cancer. The Netherlands Cohort Study (NLCS) on Diet and Cancer started in 1986 (n = 120,852) and uses the case-cohort...
article 2008
document
Punt, P.J. (author), Schuren, F.H.J. (author), Lehmbeck, J. (author), Christensen, T. (author), Hjort, C. (author), van den Hondel, C.A.M.J.J. (author), TNO Kwaliteit van Leven (author)
Expression of several Aspergillus niger genes encoding major secreted, but not vacuolar, protease genes including the major acid protease gene pepA, was shown to be affected in the previously isolated A. niger protease mutant, AB1.13 [Mattern, I.E., van Noort, J.M., van den Berg, P., Archer, D.A., Roberts, I.N., Hondel, C.A.M.J.J., 1992....
article 2008
document
Norris, L.A. (author), Brosnan, J. (author), Bonnar, J. (author), Conard, J. (author), Kluft, C. (author), Hellgren, M. (author), TNO Kwaliteit van Leven (author)
Epidemiological studies have shown that hormone therapy (HT) increases the risk of venous thromboembolism in post menopausal women. The mechanism of this increased risk is unknown; however, activation of the haemostatic system is known to contribute to the pathogenesis of venous thromboembolism. In post-menopausal women the estrogen /progestogen...
article 2008
Searched for: subject:"Mutation"
(1 - 20 of 127)

Pages