يعرض 1 - 10 نتائج من 119 نتيجة بحث عن '"T. Bruin"', وقت الاستعلام: 1.48s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A compound heterozygote for lipoprotein lipase deficiency, Val69–>Leu and Gly188–>Glu: correlation between in vitro LPL activity and clinical expression.

    المؤلفون: T. Bruin, S. Tuzgöl, W.J. Mulder, A.E. van den Ende, H. Jansen, M.R. Hayden, J.J. Kastelein

    المصدر: Journal of Lipid Research, Vol 35, Iss 3, Pp 438-445 (1994)

    مصطلحات موضوعية: Biochemistry, QD415-436

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S0022227520411885; https://doaj.org/toc/0022-2275

    URL الوصول: https://doaj.org/article/538e701d81a94489a6df7c96a331ec40

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  2. 2
    Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event

    المؤلفون: D. W. Erkelens, S. M. Bijvoet, T. Bruin, Michael R. Hayden, Howard E. Henderson, John J.P. Kastelein, M. A. M. M. Mannens

    المساهمون: Other departments

    المصدر: American journal of medical genetics, 78(4), 313-316. Wiley-Liss Inc.

    مصطلحات موضوعية: Genetics, Mutation, Lipoprotein lipase, Biology, medicine.disease_cause, Compound heterozygosity, Loss of heterozygosity, Genotype, medicine, lipids (amino acids, peptides, and proteins), Restriction fragment length polymorphism, Allele, Gene, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956979910176c31091c5d8604cbab07c
    https://doi.org/10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m

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  3. 3
    Genetic Variant Showing a Positive Interaction With β-Blocking Agents With a Beneficial Influence on Lipoprotein Lipase Activity, HDL Cholesterol, and Triglyceride Levels in Coronary Artery Disease Patients

    المؤلفون: Eric Boerwinkle, Michael R. Hayden, Michael D. Hallman, P.W.A. Reymer, John J.P. Kastelein, Albert V.G. Bruschke, Björn E. Groenemeijer, E. Gagne, T. Bruin, Hans Jansen, Jan Albert Kuivenhoven, K.I. Lie

    المصدر: Circulation. 95:2628-2635

    مصطلحات موضوعية: medicine.medical_specialty, Lipoprotein lipase, Triglyceride, Cholesterol, business.industry, Hydroxymethylglutaryl-CoA reductase, chemistry.chemical_compound, Endocrinology, chemistry, Physiology (medical), Internal medicine, medicine, Lipolysis, lipids (amino acids, peptides, and proteins), Hepatic lipase, Cardiology and Cardiovascular Medicine, business, Pravastatin, medicine.drug, Lipoprotein

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::353508abdaaeb888f3d78c423cdcfe02
    https://doi.org/10.1161/01.cir.95.12.2628

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  4. 4
    A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

    المؤلفون: Ewa Ehrenborg, T. Bruin, Michael R. Hayden, Pascale Benlian, Jean Luc De Gennes, John J.P. Kastelein, Jean Furioli, L. Foubert

    المساهمون: Other departments, Faculteit der Geneeskunde

    المصدر: Karolinska Institutet
    Human mutation, 10(3), 179-185. Wiley-Liss Inc.
    Human Mutation, 10, 179-185. Wiley-Liss Inc.

    مصطلحات موضوعية: Proband, Adult, Male, Adolescent, Biology, medicine.disease_cause, Arginine, Combined hyperlipidemia, Chylomicrons, medicine, Serine, Genetics, Humans, Point Mutation, Child, Gene, Genetics (clinical), Mutation, Lipoprotein lipase, Haplotype, Middle Aged, medicine.disease, Founder Effect, Pedigree, Lipoprotein Lipase, Morocco, Allelic heterogeneity, lipids (amino acids, peptides, and proteins), Female, Hyperlipoproteinemia Type I, Founder effect

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc99cd04a0c03e134d2455a7ec2efcb
    https://doi.org/10.1002/(sici)1098-1004(1997)10:3<179::aid-humu1>3.3.co;2-n

    View record at Wiley Find this article in full text from ProQuest
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  5. 5
    Mutation of Tryptophan Residues in Lipoprotein Lipase

    المؤلفون: Niels B. Groot, T. Bruin, John J.P. Kastelein, Aivar Lookene, Gunilla Olivecrona

    المساهمون: Faculteit der Geneeskunde

    المصدر: The Journal of Biological Chemistry, 272, 766-772. American Society for Biochemistry and Molecular Biology Inc.

    مصطلحات موضوعية: chemistry.chemical_classification, Alanine, Lipoprotein lipase, biology, Dimer, Mutant, Tryptophan, Cell Biology, Biochemistry, chemistry.chemical_compound, Enzyme, chemistry, biology.protein, Lipase, Molecular Biology, Chylomicron

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e61497f139dc52d1f5cc32fc972073cd
    https://doi.org/10.1074/jbc.272.2.766

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  6. 6
    The Asp(9) Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis

    المؤلفون: AJ van Boven, Hans Jansen, J.H.C. Reiber, J.A. Henneman, E. Gagne, T. Bruin, G.P. Molhoek, A. V. G. Bruschke, A. H. Zwinderman, Michael R. Hayden, J.J.P. Kastelein, Joop Jukema, Björn E. Groenemeijer

    المصدر: Circulation, 94(8), 1913-1918. LIPPINCOTT WILLIAMS & WILKINS

    مصطلحات موضوعية: medicine.medical_specialty, Statin, medicine.drug_class, ARTERY DISEASE, medicine.medical_treatment, Population, Physiology (medical), Angioplasty, Internal medicine, medicine, Family history, CHOLESTEROL LEVELS, education, genes, Coronary atherosclerosis, education.field_of_study, Lipoprotein lipase, business.industry, lipoproteins, Endocrinology, atherosclerosis, Cardiology and Cardiovascular Medicine, business, Pravastatin, Lipoprotein, medicine.drug

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94380730ab9b6601345706c8c1ccab18
    https://doi.org/10.1161/01.cir.94.8.1913

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  7. 7
    A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia

    المؤلفون: Daan Kromhout, John J.P. Kastelein, Elianne E.G. Appelman, Björn E. Groenemeyer, Michael R. Hayden, Li Miao, Karin van de Oever, Jaap C. Seidel, S.M. Bijvoet, E. Gagne, T. Bruin, P.W.A. Reymer

    المصدر: Human Molecular Genetics, 4, 1543-1549
    Human Molecular Genetics 4 (1995)

    مصطلحات موضوعية: Male, medicine.medical_specialty, Apolipoprotein B, Lipoproteins, Molecular Sequence Data, Hyperlipidemia, Familial Combined, medicine.disease_cause, Exon, chemistry.chemical_compound, Internal medicine, Hyperlipidemia, Serine, Genetics, medicine, Humans, Point Mutation, Life Science, Molecular Biology, Genetics (clinical), DNA Primers, Mutation, Lipoprotein lipase, Base Sequence, biology, Triglyceride, Point mutation, Vakgroep Gezondheidsleer, General Medicine, medicine.disease, Lipids, Environmental and Occupational Health Group, Lipoprotein Lipase, Endocrinology, chemistry, Biochemistry, biology.protein, Electrophoresis, Polyacrylamide Gel, lipids (amino acids, peptides, and proteins), Asparagine, Lipoprotein

    وصف الملف: application/octet-stream; text/html

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::548a1ec4a9ea5097fd2b835c0019fa08
    https://doi.org/10.1093/hmg/4.9.1543

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  8. 8
    Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana

    المؤلفون: S Tuzgol, T. Bruin, S.M. Bijvoet, J.J.P. Kastelein, Michael R. Hayden

    المساهمون: Other departments

    المصدر: Journal of medical genetics, 31(8), 622-626. BMJ Publishing Group

    مصطلحات موضوعية: Adult, Male, Proband, Very low-density lipoprotein, Apolipoprotein B, Apolipoprotein C-II, Molecular Sequence Data, Consanguinity, Biology, Polymerase Chain Reaction, Chylomicrons, Genetics, Humans, Point Mutation, Apolipoproteins C, Codon, Genetics (clinical), Lipoprotein lipase, Base Sequence, Point mutation, Abdominal Pain, Pedigree, Italy, biology.protein, Female, Hyperlipoproteinemia Type I, lipids (amino acids, peptides, and proteins), Chromosomes, Human, Pair 19, Research Article, Chylomicron

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a1625b7a87605bf29f057c9851afb7b
    https://doi.org/10.1136/jmg.31.8.622

    Find this article in full text from ProQuest
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  9. 9
    A compound heterozygote for lipoprotein lipase deficiency, Val69–>Leu and Gly188–>Glu: correlation between in vitro LPL activity and clinical expression

    المؤلفون: A. van den Ende, John J.P. Kastelein, Michael R. Hayden, H. Jansen, T. Bruin, Willem J. M. Mulder, S. Tuzgöl

    المساهمون: Other departments

    المصدر: Journal of Lipid Research, Vol 35, Iss 3, Pp 438-445 (1994)
    Journal of lipid research, 35(3), 438-445. American Society for Biochemistry and Molecular Biology Inc.

    مصطلحات موضوعية: medicine.medical_specialty, Lipoprotein lipase, Mutation, Triglyceride, Heterozygote advantage, QD415-436, Cell Biology, Biology, medicine.disease, medicine.disease_cause, Compound heterozygosity, Biochemistry, Lipoprotein lipase deficiency, chemistry.chemical_compound, Endocrinology, chemistry, Valine, Internal medicine, medicine, Leucine

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1db47e336555cb57762d49bedb1ef5f
    https://doi.org/10.1016/s0022-2275(20)41188-5

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  10. 10
    A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

    المؤلفون: Denise E. Van Diermen, Anton F. H. Stalenhoef, Yuanhong Ma, John J.P. Kastelein, Augueste Sturk, John D. Brunzell, T. Bruin, Michael R. Hayden, P. M. J. Stuyt, Howard E. Henderson

    المساهمون: Other departments

    المصدر: European Journal of Biochemistry / FEBS, 208(2), 267-272. Wiley-Blackwell

    مصطلحات موضوعية: Adult, Proband, Proline, Molecular Sequence Data, Mutant, Biology, Arginine, Transfection, medicine.disease_cause, Polymerase Chain Reaction, Biochemistry, Catalysis, Cell Line, Structure-Activity Relationship, Catalytic triad, medicine, Humans, Missense mutation, Amino Acid Sequence, Deoxyribonucleases, Type II Site-Specific, Lipoprotein lipase, Mutation, COS cells, Base Sequence, Mutagenesis, Pedigree, Blotting, Southern, Lipoprotein Lipase, Mutagenesis, Site-Directed, Female, Hyperlipoproteinemia Type I

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c700f783153dbfe69c6756a4fdec95
    https://doi.org/10.1111/j.1432-1033.1992.tb17182.x

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