Searched for: subject%3A%22Gene%255C%2Bmutation%22
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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van Dijk, B.A.C. (author), Schouten, L.J. (author), Oosterwijk, E. (author), Kaa, C.A. (author), Kiemeney, L.A.L.M. (author), Goldbohm, R.A. (author), Schalken, J.A. (author), van den Brandt, P.A. (author), TNO Kwaliteit van Leven (author)
Objective: We investigated whether dietary carotenoid and vitamin intake and supplemental vitamin use were inversely associated with RCC risk and with Von Hippel-Lindau (VHL)-gene mutations in clear-cell renal cell carcinoma (RCC). Methods: The Netherlands Cohort Study on diet and cancer (NLCS) includes 120,852 persons, who completed a self...
article 2008
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Weijenberg, M.P. (author), Lüchtenborg, M. (author), de Goeij, A.F.P.M. (author), Brink, M. (author), van Muijen, G.N.P. (author), de Bruïne, A.P. (author), Goldbohm, R.A. (author), van den Brandt, P.A. (author), TNO Kwaliteit van Leven (author)
Objective: To investigate baseline fat intake and the risk of colon and rectal tumors lacking MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) repair gene expression and harboring mutations in the APC (adenomatous polyposis coli) tumor suppressor gene and in the KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog) oncogene....
article 2007
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Emeis, J.J. (author), Jirouskova, M. (author), Muchitsch, E.-M. (author), Shet, A.S. (author), Smyth, S.S. (author), Johnson, G.J. (author), TNO Preventie en Gezondheid (author)
Murine blood coagulation factors and function are quite similar to those of humans. Because of this similarity and the adaptability of mice to genetic manipulation, murine coagulation factors and inhibitors have been extensively studied. These studies have provided significant insights into human hemostasis. They have also provided useful...
article 2007
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Henneman, P. (author), Schaap, F.G. (author), Havekes, L.M. (author), Rensen, P.C.N. (author), Frants, R.R. (author), van Tol, A. (author), Hattori, H. (author), Smelt, A.H.M. (author), van Dijk, K.W. (author), TNO Kwaliteit van Leven (author)
Objective: The recently discovered apoAV is hypothesized to affect triglyceride metabolism by stimulating the lipolysis of triglycerides in VLDL and chylomicrons. We set out to determine the association between increased serum TG levels, plasma apoAV levels, and polymorphism of the APOA5 gene, with specific emphasis on the APOA5 S19W variation....
article 2007
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TNO Kwaliteit van Leven (author), Joost, H.G. (author), Gibney, M.J. (author), Cashman, K.D. (author), Görman, U. (author), Hesketh, J.E. (author), Mueller, M. (author), van Ommen, B. (author), Williams, C.M. (author), Mathers, J.C. (author)
Personalised, genotype-based nutrition is a concept that links genotyping with specific nutritional advice in order to improve the prevention of nutrition-associated, chronic diseases. This review describes the current scientific basis of the concept and discusses its problems. There is convincing evidence that variant genes may indeed determine...
article 2007
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TNO Kwaliteit van Leven (author), Bongaerts, B.W.C. (author), de Goeij, A.F.P.M. (author), de Vogel, S. (author), van den Brandt, P.A. (author), Goldbohm, R.A. (author), Weijenberg, M.P. (author)
High alcohol consumption is related to colorectal cancer (CRC). Our objective was to study associations between alcohol consumption and risk of CRC according to characteristics of aetiological pathways: the chromosomal instability (CIN) and the microsatellite instability (MIN) pathway. We classified CIN+ tumours (tumours with either a truncating...
article 2007
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de Vogel, S. (author), van Engeland, M. (author), Lüchtenborg, M. (author), de Bruïne, A.P. (author), Roemen, G.M.J.M. (author), Lentjes, M.H.F.M. (author), Goldbohm, R.A. (author), van den Brandt, P.A. (author), de Goeij, A.F.P.M. (author), Weijenberg, M.P. (author), TNO Kwaliteit van Leven (author)
Folate deficiency has been associated with colorectal cancer risk and may be involved in colorectal carcinogenesis through increased chromosome instability, gene mutations, and aberrant DNA methylation. Within the Netherlands Cohort Study on diet and cancer, we investigated the associations between dietary folate intake and colorectal cancer...
article 2006
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Gray, S.L. (author), Dalla Nora, E. (author), Grosse, J. (author), Manieri, M. (author), Stoeger, T. (author), Medina-Gomez, G. (author), Burling, K. (author), Wattler, S. (author), Russ, A. (author), Yeo, G.S.H. (author), Chatterjee, V.K. (author), O'Rahilly, S. (author), Voshol, P.J. (author), Cinti, S. (author), Vidal-Puig, A. (author), TNO Preventie en Gezondheid (author)
Peroxisome proliferator-activated receptor (PPAR)γ is a key transcription factor facilitating fat deposition in adipose tissue through its proadipogenic and lipogenic actions. Human patients with dominant-negative mutations in PPARγ display lipodystrophy and extreme insulin resistance. For this reason it was completely unexpected that mice...
article 2006
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van Hijum, S.A.F.T. (author), Kralj, S. (author), Ozimek, L.K. (author), Dijkhuizen, L. (author), van Geel-Schutten, G.H. (author), TNO Kwaliteit van Leven (author)
Lactic acid bacteria (LAB) employ sucrase-type enzymes to convert sucrose into homopolysaccharides consisting of either glucosyl units (glucans) or fructosyl units (fructans). The enzymes involved are labeled glucansucrases (GS) and fructansucrases (FS), respectively. The available molecular, biochemical, and structural information on sucrase...
article 2006
Searched for: subject%3A%22Gene%255C%2Bmutation%22
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