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Showing 1 to 15 of 15 found. | Sort by date

1 Identification of three new mutations of the low density lipoprotein receptor gene in dutch familial hypercholesterolemic patients
article 1998    
Author: Lombardi, P. · Sijbrands, E.J.G. · Kamerling, S. · Smelt, A.H. · Havekes, L.M.
Keywords: Health · Adult · Aged · Codon, Terminator · DNA · DNA Mutational Analysis · Exons · Humans · Hyperlipoproteinemia Type II · Introns · Mutagenesis, Insertional · Mutation · Netherlands · Point Mutation · Receptors, LDL

2 Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
article 1995    
Author: Lombardi, P. · Sijbrands, E.J.G. · Giessen, K. van de · Smelt, A.H.M. · Kastelein, J.J.P. · Frants, R.R. · Havekes, L.M.
Keywords: Base Sequence · DNA Primers · Electrophoresis, Agar Gel · Human · Hypercholesterolemia, Familial · Molecular Sequence Data · Point Mutation · Polymorphism (Genetics) · Receptors, LDL · Sequence Analysis · Support, Non-U.S. Gov't
[PDF] [Abstract]

3 UV-induced DNA incision and proliferating cell nuclear antigen recruitment to repair sites occur independently of p53-replication protein A interaction in p53 wild type and mutant ovarian carcinoma cells
article 2001    
Author: Riva, F. · Zuco, V. · Vink, A.A. · Supino, R. · Prosperi, E.
Keywords: Nutrition · Blotting, Western · Cell Survival · DNA Damage · DNA Repair · DNA, Neoplasm · DNA-Binding Proteins · Female · Humans · Ovarian Neoplasms · Point Mutation · Proliferating Cell Nuclear Antigen · Replication Protein A · Tumor Cells, Cultured · Tumor Suppressor Protein p53 · Ultraviolet Rays
[Abstract]

4 Hyperlipidemia of ApoE2(Arg158-Cys) and ApoE3-Leiden transgenic mice is modulated predominantly by LDL receptor expression
article 1999    
Author: Dijk, K.W. van · Vlijmen, B.J.M. van · Winther, M.P.J. de · Hof, B. van 't · Zee, A. van der · Boom, H. van der · Havekes, L.M. · Hofker, M.H.
Keywords: Biology · Apolipoprotein E · Hypertriglyceridemia · LDL receptor · LDL receptor-related protein · VLDL triglyceride lipolysis · Animals · Apolipoprotein E2 · Apolipoprotein E3 · Apolipoproteins E · Cholesterol, VLDL · Gene Expression · Hypertriglyceridemia · Lipolysis · Mice · Mice, Knockout · Point Mutation · Receptors, LDL · Triglycerides
[Abstract]

5 Apolipoprotein E2 (Lys146→Gln) causes hypertriglyceridemia due to an apolipoprotein E variant-specific inhibition of lipolysis of very low density lipoproteins-triglycerides
article 2000    
Author: Beer, F. de · Dijk, K.W. van · Jong, M.C. · Vark, L.C. van · Zee, A. van der · Hofker, M.H. · Fallaux, F.J. · Hoeben, R.C. · Smelt, A.H.M. · Havekes, L.M.
Keywords: Adenoviridae · Alleles · Animals · Apolipoprotein E2 · Apolipoprotein E3 · Apolipoproteins E · Gene Expression · Gene Transfer Techniques · Humans · Hydrolysis · Hyperlipoproteinemia Type III · Hypertriglyceridemia · Lipolysis · Lipoproteins, VLDL · Liver · Male · Mice · Mice, Knockout · Point Mutation · RNA, Messenger · Triglycerides
[Abstract]

6 Binding, tuning and mechanical function of the 4-hydroxy-cinnamic acid chromophore in photoactive yellow protein
article 2007    
Author: Horst, M.A. van der · Arents, J.C. · Kort, R. · Hellingwerf, K.J.
Keywords: Biology · Biotechnology · 4 hydroxy cinnamic acid · apoprotein · cinnamic acid derivative · coumaric acid · cysteine · glycine · mutant protein · photoactive yellow protein · protein · sinapic acid · thiomethyl 4 coumaric acid · article · catalysis · chemical binding · chromatophore · color · covalent bond · in vitro study · knowledge · model · photochemistry · pKa · point mutation · priority journal · protein binding · protein function · protein modification · protein variant · proton transport · Bacterial Proteins · Coumaric Acids · Hydrogen-Ion Concentration · Photoreceptors, Microbial · Point Mutation · Protein Binding · Spectrophotometry, Ultraviolet · Bacteria (microorganisms)
[PDF] [Abstract]

7 GSTP1-1 stereospecifically catalyzes glutathione conjugation of ethacrynic acid
article 1998    
Author: Iersel, M.L.P.S. van · Lipzig, M.M.H. van · Rietjens, I.M.C.M. · Vervoort, J. · Bladeren, P.J. van
Keywords: EA, ethacrynic acid · Ethacrynic acid · Glutathione S-transferase · Stereoselectivity · Etacrynic acid · Glutathione · Glutathione transferase · Multidrug resistance protein · Chemical reaction · Conjugate · Controlled study · Diastereoisomer · Drug conjugation · Enzyme mechanism · Glutathione metabolism · Human cell · Melanoma cell · Nuclear magnetic resonance spectroscopy · Stereochemistry · Amino Acid Substitution · Ethacrynic Acid · Glutathione · Glutathione Transferase · Humans · Isoenzymes · Melanoma · Point Mutation · Stereoisomerism · Substrate Specificity · Tumor Cells, Cultured
[PDF] [Abstract]

8 Apolipoprotein E1-Hammersmith (Lys146 → Asn;Arg147 → Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia
article 1996    
Author: Hoffer, M.J.V. · Niththyananthan, S. · Naoumova, R.P. · Kibirige, M.S. · Frants, R.R. · Havekes, L.M. · Thompson, G.R.
Keywords: Biology · Dyslipidaemia · Cclofibrate · Colestyramine · Mercaptamine · Atherosclerosis · Case report · Adult · Anticholesteremic Agents · Antilipemic Agents · Apolipoproteins E · Child · Child, Preschool · Cholesterol · Cholestyramine · Cysteamine · Dinucleotide Repeats · DNA · Electrophoresis · Exons · Female · Genotype · Humans · Hyperlipoproteinemia Type III · Immunoblotting · Male · Nuclear Family · Phenotype · Point Mutation · Procetofen · Radiation-Protective Agents · Triglycerides
[Abstract]

9 The role of the lysyl binding site of tissue-type plasminogen activator in the interaction with a forming fibrin clot
article 1995    
Author: Bakker, A.H.F. · Weening-Verhoeff, E.J.D. · Verheijen, J.H.
Keywords: Amino Acid Sequence · Aminocaproic Acids · Animal · Binding Sites · Binding, Competitive · Blood Coagulation · DNA Mutational Analysis · Fibrin · L Cells (Cell Line) · Lysine · Mice · Models, Biological · Molecular Sequence Data · Point Mutation · Protein Binding · Recombinant Proteins · Sequence Deletion · Support, Non-U.S. Gov't · Tissue Plasminogen Activator
[PDF] [Abstract]

10 An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor
article 1993    
Author: Lombardi, P. · Hoffer, M.J.V. · Top, B. · Wit, E. de · Gevers Leuven, J.A. · Frants, R.R. · Havekes, L.M.
Keywords: Denaturating gradient gel electrophoresis · Polymerase chain reaction · Complementary dna · Low density lipoprotein receptor · Case report · Dna sequence · Familial hypercholesterolemia · Gel electrophoresis · Mutation · Pedigree analysis · Polymerase chain reaction · Adult · Amino Acid Sequence · Base Sequence · Cells, Cultured · Electrophoresis · Female · Homozygote · Human · Hypercholesterolemia, Familial · Introns · Molecular Sequence Data · Pedigree · Point Mutation · Reading Frames · Receptors, LDL · RNA Splicing · Sequence Analysis, DNA · Support, Non-U.S. Gov't
[Abstract]

11 Accelerated atherosclerosis by placement of a perivascular cuff and a cholesterol-rich diet in ApoE*3Leiden transgenic mice
article 2000    
Author: Lardenoye, J.H.P. · Delsing, D.J.M. · Vries, M.R. de · Deckers, M.M.L. · Princen, H.M.G. · Havekes, L.M. · Hinsbergh, V.W.M. van · Bockel, J.H. van · Quax, P.H.A.
Keywords: Biology · Animals · Apolipoprotein E3 · Apolipoproteins E · Arteriosclerosis · Cholesterol · Cholesterol, Dietary · Constriction · Diet, Atherogenic · Femoral Artery · Genetic Predisposition to Disease · Hemorheology · Hypercholesterolemia · Hyperplasia · Male · Mice · Mice, Inbred C57BL · Mice, Transgenic · Point Mutation · Specific Pathogen-Free Organisms · Triglycerides · Tunica Intima
[Abstract]

12 UV-induced effects
article 2005    
Author: Liebsch, M. · Spielmann, H. · Pape, W. · Krul, C. · Deguercy, A. · Eskes, C.A.M.
Keywords: Health · Physiological Sciences · cosmetic · hypoxanthine phosphoribosyltransferase · acute toxicity · allergenicity · animal testing replacement · cell line · chromosome aberration · comet assay · DNA damage · gene mutation · genotoxicity · human · in vivo study · micronucleus · model · nonhuman · photosensitization · phototoxicity · point mutation · priority journal · radiation exposure · radiation hazard · review · standardization · ultraviolet A radiation · ultraviolet radiation · validation process · Animal Testing Alternatives · Animals · Cell Line · Consumer Product Safety · Cosmetics · Dermatitis, Photoallergic · Dermatitis, Phototoxic · DNA · DNA Damage · Drug Stability · Erythrocytes · European Union · Hemolysis · Humans · Mutagenicity Tests · Mutagens · Photosensitizing Agents · Skin · Skin Irritancy Tests · Ultraviolet Rays · Animalia
[Abstract]

13 APC mutations in sporadic coloretal carcinomas from The Netherlands Cohort Study
article 2004    
Author: Lüchtenborg, M. · Weijenberg, M.P. · Roemen, G.M.J.M. · Bruïne, A.P. de · Brandt, P.A. van den · Lentjes, M.H.F.M. · Brink, M. · Engeland, M. van · Goldbohm, R.A. · Goeij, A.F.P.M. de
Keywords: Health · Food and Chemical Risk Analysis · APC protein · Adult · Aged · Ascending colon · Cancer localization · Cancer staging · Carcinogenesis · Codon · Cohort analysis · Colon adenocarcinoma · Colorectal carcinoma · Controlled study · Descending colon · Family history · Female · Frameshift mutation · Gender · Gene cluster · Gene deletion · Gene function · Gene insertion · Gene mutation · Human · Human tissue · Major clinical study · Male · Microdissection · Missense mutation · Mutational analysis · Netherlands · Nonsense mutation · Onset age · Point mutation · Polymerase chain reaction · Priority journal · Rectum carcinoma · Review · Sequence analysis · Tumor differentiation · Tumor localization · Adenomatous Polyposis Coli Protein · Amino Acid Sequence · Base Sequence · Carcinoma · Colorectal Neoplasms · Frameshift Mutation · Middle Aged · Sequence Deletion
[Abstract]

14 The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia
article 1996    
Author: Hoffer, M.J.V. · Bredie, S.J.H. · Boomsma, D.I. · Reymer, P.W.A. · Kastelein, J.J.P. · Knijff, P. de · Demacker, P.N.M. · Stalenhoef, A.F.H. · Havekes, L.M. · Frants, R.R.
Keywords: Biology · Cholesterol · Familial combined hyperlipidaemia · Lipoprotein lipase · LPL(Asn291→ Ser) mutation · Triglycerides · cholesterol · high density lipoprotein cholesterol · lipoprotein lipase · low density lipoprotein cholesterol · triacylglycerol · very low density lipoprotein · adult · article · controlled study · coronary artery atherosclerosis · enzyme activity · familial hyperlipemia · gene mutation · genetic predisposition · human · major clinical study · male · pedigree analysis · priority journal · Base Sequence · Cholesterol · Coronary Disease · Female · Gene Frequency · Genetic Predisposition to Disease · Heterozygote · Humans · Hyperlipidemia, Familial Combined · Lipids · Lipoprotein Lipase · Male · Molecular Sequence Data · Netherlands · Pedigree · Point Mutation · Prevalence · Risk Factors · Triglycerides
[Abstract]

15 Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor γ function (P465L PPARγ) in mice
article 2006    
Author: Gray, S.L. · Dalla Nora, E. · Grosse, J. · Manieri, M. · Stoeger, T. · Medina-Gomez, G. · Burling, K. · Wattler, S. · Russ, A. · Yeo, G.S.H. · Chatterjee, V.K. · O'Rahilly, S. · Voshol, P.J. · Cinti, S. · Vidal-Puig, A.
Keywords: Biology · Peroxisome proliferator activated receptor gamma · Adipose tissue · Animal cell · Animal experiment · Animal model · Animal tissue · Carbohydrate metabolism · Controlled study · Energy balance · Female · Gene expression · gene mutation · Homozygosity · Hyperphagia · Insulin resistance · Insulin sensitivity · Lipid metabolism · Lipid storage · Lipogenesis · Male · Metabolic disorder · Nonhuman · Obesity · Point mutation · Protein deficiency · Protein function · Tissue distribution · Tissue expansion · Blood · Genetics · Glucose blood level · Homozygote · Lethal gene · Metabolism · Mouse mutant · Pathology · Physiology · Adipose Tissue · Animals · Blood Glucose · Gene Expression Profiling · Genes, Lethal · Homozygote · Insulin · Insulin Resistance · Leptin · Lipid Metabolism · Mice · Mice, Obese · PPAR gamma
[Abstract]

Search results also available in MS Excel format.

Showing 1 to 15 of 15 found. | Sort by date