Výsledky vyhľadávania - "Hypertriglyceridemia genetics"

Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report

Autori: Umidakhon Makhmudova P. Christian Schulze Stefan Lorkowski a ďalší

Zdroj: J Med Case Rep
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-9 (2024)

Predmety: Male, Adult, 0301 basic medicine, Oligonucleotides, Case Report, APOA5, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Case report, Humans, Monogenic hypertriglyceridemia, Diet, Fat-Restricted, Triglycerides, Hypertriglyceridemia, Homozygote, Volanesorsen, Homozygote [MeSH], Mutation [MeSH], Pancreatitis/genetics [MeSH], Adult [MeSH], Hyperlipoproteinemia Type I/complications [MeSH], Humans [MeSH], Diet, Fat-Restricted [MeSH], Apolipoprotein A-V/genetics [MeSH], Hypertriglyceridemia/genetics [MeSH], Hyperlipoproteinemia Type I/genetics [MeSH], Recurrence [MeSH], Male [MeSH], Oligonucleotides/therapeutic use [MeSH], Triglycerides/blood [MeSH], Acute pancreatitis, 3. Good health, Pancreatitis, Apolipoprotein A-V, Mutation, Medicine, Hyperlipoproteinemia Type I

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38872171
https://doaj.org/article/526a99b9fd514511b8ae8f9df46b1f98
https://repository.publisso.de/resource/frl:6500648

Hypertriglyceridaemia-induced pancreatitis during pregnancy caused by a genetic defect / Pankreatitis under graviditet på grund af genetisk betinget hypertriglyceridaemi

Autori: Knold, Jakob Gohr, Thomas Jensen, Dorte Möller a ďalší

Zdroj: Ugeskrift for Laeger. 181(15):1436

APOA5-1131T>C genotype effects on apolipoprotein A5 and triglyceride levels in response to dietary intervention and regular exercise (DIRE) in hypertriglyceridemic subjects

Autori: Ji-Young Kim Jong Ho Lee Sang Hyun Lee a ďalší

Prispievatelia: Ji-Young Kim Jong Ho Lee Sang Hyun Lee a ďalší

Zdroj: Atherosclerosis. 211:512-519

Predmety: Adult, Male, 0301 basic medicine, Apolipoproteins A/genetics, Genotype, Cholesterol/metabolism, Hypertriglyceridemia/genetics, 03 medical and health sciences, Humans, HDL/metabolism, Exercise, Apolipoproteins A, Triglycerides, Hypertriglyceridemia, 0303 health sciences, Korea, Anthropometry, Cholesterol, HDL, Triglycerides/metabolism, Middle Aged, Hypertriglyceridemia/diet therapy, Diet, 3. Good health, APOA5-1131 T>C, Cholesterol, Apolipoprotein A-V, Female, Apolipoproteins A/blood, Dietary intervention and regular exercise, Apolipoprotein A5

Popis súboru: 512~519

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/20392444
https://www.cabdirect.org/cabdirect/abstract/20103266922
https://www.ncbi.nlm.nih.gov/pubmed/20392444
https://yonsei.pure.elsevier.com/en/publications/apoa5-1131tgtc-genotype-effects-on-apolipoprotein-a5-and-triglyce
https://pubmed.ncbi.nlm.nih.gov/20392444/
https://www.sciencedirect.com/science/article/pii/S0021915010002303
https://www.cabdirect.org/abstracts/20103266922.html

Apolipoprotein A-V N-terminal Domain Lipid Interaction Properties in Vitro Explain the Hypertriglyceridemic Phenotype Associated with Natural Truncation Mutants

Autori: Kasuen Wong-Mauldin Trudy M. Forte Robert O. Ryan a ďalší

Zdroj: The Journal of biological chemistry, 284 (48

Predmety: Male, 0301 basic medicine, Secondary, Hypertriglyceridemia -- genetics, Lipoproteins, VLDL, Hypertriglyceridemia -- metabolism, Protein Structure, Secondary, Mice, Lipoproteins, HDL -- metabolism, Spectroscopy, Fourier Transform Infrared, Spectroscopy, Phospholipids, Apolipoproteins -- chemistry, Hypertriglyceridemia, Mice, Knockout, 0303 health sciences, VLDL -- metabolism, Circular Dichroism, Lipoproteins, VLDL -- metabolism, VLDL -- blood, Apolipoproteins A -- chemistry, Hypertriglyceridemia -- pathology, Lipoproteins, HDL -- blood, Lipoproteins, HDL, Apolipoproteins -- metabolism, Protein Binding, Protein Structure, Lipoproteins, Knockout, Immunoblotting, HDL -- metabolism, Fluorescence, Apolipoproteins -- genetics, 03 medical and health sciences, Chimie, Animals, Humans, Apolipoproteins A -- metabolism, Apolipoproteins A, Binding Sites, Spectrometry, Apolipoproteins A -- genetics, Kinetics, Apolipoproteins, Spectrometry, Fluorescence, Fourier Transform Infrared, Apolipoprotein A-V, Phospholipids -- metabolism, Mutation, HDL -- blood, Lipoproteins, VLDL -- blood

Popis súboru: 2 full-text file(s): application/pdf; application/pdf

Prístupová URL adresa: http://www.jbc.org/content/284/48/33369.full.pdf
https://pubmed.ncbi.nlm.nih.gov/19825998
https://www.sciencedirect.com/science/article/pii/S0021925820377747
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785180/
https://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/74186/Holdings
https://europepmc.org/articles/PMC2785180
https://works.bepress.com/kasuen_mauldin/2/
https://www.jbc.org/content/284/48/33369.full.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/74186

Comparison of Low-Fat Meal and High-Fat Meal on Postprandial Lipemic Response in Non-Obese Men according to the −1131T>C Polymorphism of the Apolipoprotein A5 (APOA5) Gene (Randomized Cross-Over Design)

Autori: Soo Jeong Koh Oh Yoen Kim Jong Ho Lee a ďalší

Prispievatelia: Soo Jeong Koh Oh Yoen Kim Jong Ho Lee a ďalší

Zdroj: Journal of the American College of Nutrition. 25:340-347

Predmety: Adult, Blood Glucose, Male, Apolipoproteins A/genetics, Genotype, Cardiovascular Diseases/blood, Fatty Acids, Nonesterified, APOA5, postprandial lipemic response, Chylomicrons/blood, Dose-Response Relationship, Hypertriglyceridemia/genetics, 03 medical and health sciences, 0302 clinical medicine, Lipid Metabolism/genetics, Gene Frequency, Risk Factors, Chylomicrons, Cardiovascular Diseases/genetics, Humans, Insulin, Polymorphism, Apolipoproteins A, Hypertriglyceridemia, 2. Zero hunger, Nonesterified/blood, Cross-Over Studies, Polymorphism, Genetic, Dose-Response Relationship, Drug, high fat meal, Fatty Acids, Triglycerides/blood, Blood Glucose/analysis, Triglycerides/genetics, Lipid Metabolism, Postprandial Period, Dietary Fats, Genetic, Lipid Metabolism/physiology, Hypertriglyceridemia/blood, Apolipoprotein A-V, Cardiovascular Diseases, Apolipoproteins A/blood, Drug, Dietary Fats/administration & dosage, Insulin/blood, C carrier

Popis súboru: 340~347

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/16943456
https://yonsei.pure.elsevier.com/en/publications/comparison-of-low-fat-meal-and-high-fat-meal-on-postprandial-lipe
https://www.tandfonline.com/doi/abs/10.1080/07315724.2006.10719544
https://www.tandfonline.com/doi/pdf/10.1080/07315724.2006.10719544
https://pubmed.ncbi.nlm.nih.gov/16943456/
https://jglobal.jst.go.jp/detail?JGLOBAL_ID=200902215565272886
https://europepmc.org/article/MED/16943456

Glucagon regulates hepatic lipid metabolism via cAMP and Insig-2 signaling: implication for the pathogenesis of hypertriglyceridemia and hepatic steatosis

Autori: Wang, Hai Zhao, Miaoyun Sud, Neetu a ďalší

Zdroj: Wang, H, Zhao, M, Sud, N, Christian, P, Shen, J, Song, Y, Pashaj, A, Zhang, K, Carr, T & Su, Q 2016, 'Glucagon regulates hepatic lipid metabolism via cAMP and Insig-2 signaling: implication for the pathogenesis of hypertriglyceridemia and hepatic steatosis', Scientific Reports, vol. 6, pp. 1-11. https://doi.org/10.1038/srep32246

Predmety: Animals, Cell Line, Tumor, Cyclic AMP/metabolism, Cyclic AMP Response Element-Binding Protein/genetics, Fatty Liver/genetics, Glucagon/pharmacology, Hep G2 Cells, Hepatocytes/drug effects, Humans, Hypertriglyceridemia/genetics, Lipid Metabolism/drug effects, Lipogenesis/drug effects, Membrane Proteins/genetics, Mice, Inbred C57BL, Knockout, Signal Transduction/drug effects, Sterol Regulatory Element Binding Protein 1/genetics

Popis súboru: application/pdf

Dostupnosť: https://pure.qub.ac.uk/en/publications/e79cc469-b07f-42a3-b094-6db308e268b4
https://doi.org/10.1038/srep32246
https://pureadmin.qub.ac.uk/ws/files/160008592/srep32246.pdf

Apolipoprotein E genotyping and phenotyping in type II diabetes mellitus patients with hypertriglyceridemia

Autori: Oh Hun Kwon Jeong-Ho Kim Eun Jig Lee a ďalší

Prispievatelia: Oh Hun Kwon Jeong-Ho Kim Eun Jig Lee a ďalší

Zdroj: Clinical Biochemistry. 30:47-52

Predmety: 0301 basic medicine, Apolipoproteins E/blood, Genotype, Cholesterol/blood, Apolipoproteins E/genetics, Hypertriglyceridemia/genetics, 03 medical and health sciences, Apolipoproteins E, Diabetes Mellitus, Humans, Polymorphism, Alleles, Type 2/blood, Genetic/genetics, Aged, Hypertriglyceridemia, Type 2/genetics, 0303 health sciences, Polymorphism, Genetic, Genetic/physiology, Middle Aged, 3. Good health, Hypertriglyceridemia/blood, Cholesterol, Phenotype, Diabetes Mellitus, Type 2

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/9056109
https://www.sciencedirect.com/science/article/pii/S0009912096001300
https://ir.ymlib.yonsei.ac.kr/handle/22282913/177288
https://yonsei.pure.elsevier.com/en/publications/apolipoprotein-e-genotyping-and-phenotyping-in-type-ii-diabetes-m
https://www.ncbi.nlm.nih.gov/pubmed/9056109

Synergistic effects of genetic variants of APOA5 and BTN2A1 on dyslipidemia or metabolic syndrome.

Prispievatelia: Mizuho Hiramatsu Mitsutoshi Oguri Kimihiko Kato a ďalší

Predmety: Aged, Apolipoprotein A-V, Apolipoproteins A/genetics, Butyrophilins, Cholesterol, HDL/blood, HDL/genetics, Dyslipidemias/epidemiology, Dyslipidemias/genetics, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Hypertriglyceridemia/genetics, Japan/epidemiology, Male, Membrane Glycoproteins/genetics, Metabolic Syndrome/epidemiology, Metabolic Syndrome/genetics, Middle Aged, Polymorphism, Single Nucleotide, Republic of Korea/epidemiology, Triglycerides/blood

Relation: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE; J01132; https://ir.ymlib.yonsei.ac.kr/handle/22282913/90492; T201200958; 32800

Dostupnosť: https://ir.ymlib.yonsei.ac.kr/handle/22282913/90492
http://www.spandidos-publications.com/ijmm/30/1/185

ApoA-V: the regulation of a regulator of plasma triglycerides

Autori: Olofsson, Sven-Olof, 1947

Zdroj: Arterioscler Thromb Vasc Biol. 25(6):1097-9

Predmety: Medical and Health Sciences, Medicin och hälsovetenskap, Apolipoproteins/*genetics/*metabolism, Apolipoproteins A, Atherosclerosis/genetics/*metabolism, Humans, Hypertriglyceridemia/genetics/*metabolism, Triglycerides/*blood

Prístupová URL adresa: https://gup.ub.gu.se/publication/50664

Apolipoprotein A-V N-terminal domain lipid interaction properties in vitro explain the hypertriglyceridemic phenotype associated with natural truncation mutants.

Autori: Wong-Mauldin, Kasuen Raussens, Vincent Forte, Trudy M a ďalší

Zdroj: The Journal of biological chemistry, 284 (48

Predmety: Chimie, Animals, Apolipoproteins -- chemistry, Apolipoproteins -- genetics, Apolipoproteins -- metabolism, Apolipoproteins A -- chemistry, Apolipoproteins A -- genetics, Apolipoproteins A -- metabolism, Binding Sites, Circular Dichroism, Humans, Hypertriglyceridemia -- genetics, Hypertriglyceridemia -- metabolism, Hypertriglyceridemia -- pathology, Immunoblotting, Kinetics, Lipoproteins, HDL -- blood, HDL -- metabolism, VLDL -- blood, VLDL -- metabolism, Male, Mice, Knockout, Mutation, Phospholipids -- metabolism, Protein Binding, Protein Structure, Secondary, Spectrometry

Popis súboru: 2 full-text file(s): application/pdf | application/pdf

Relation: uri/info:doi/10.1074/jbc.M109.040972; uri/info:pii/M109.040972; uri/info:pmid/19825998; uri/info:scp/70450235046; uri/info:pmcid/PMC2785180; https://dipot.ulb.ac.be/dspace/bitstream/2013/74186/1/2009_Wong_Mauldin_et_al_J_Biol_Chem_284_33369.pdf; https://dipot.ulb.ac.be/dspace/bitstream/2013/74186/4/PMC2785180.pdf

Dostupnosť: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/74186
https://dipot.ulb.ac.be/dspace/bitstream/2013/74186/1/2009_Wong_Mauldin_et_al_J_Biol_Chem_284_33369.pdf
https://dipot.ulb.ac.be/dspace/bitstream/2013/74186/4/PMC2785180.pdf

The - 1131T → polymorphism in the apolipoprotein A5 gene is associated with postprandial hypertriacylglycerolemia; elevated small, dense LDL concentrations; and oxidative stress in nonobese Korean men1–3

Prispievatelia: Yangsoo Jang Ji Young Kim Jong Ho Lee a ďalší

Zdroj: T200401970.pdf

Predmety: Adult, Alleles, Apolipoprotein A-V, Apolipoproteins/genetics, Apolipoproteins A, Body Mass Index, C-Reactive Protein/analysis, Cardiovascular Diseases/blood, Cardiovascular Diseases/genetics, DNA Damage/genetics, DNA Damage/physiology, Gene Frequency, Genotype, Humans, Hypertriglyceridemia/blood, Hypertriglyceridemia/genetics, Korea, Lipid Peroxidation/genetics, Lipid Peroxidation/physiology, Lipoproteins, LDL/blood, Male, Middle Aged, Oxidative Stress, Polymorphism, Genetic, Postprandial Period, Risk Factors, Triglycerides/blood, Triglycerides/genetics

Popis súboru: 832~840

Relation: AMERICAN JOURNAL OF CLINICAL NUTRITION; J00074; https://ir.ymlib.yonsei.ac.kr/handle/22282913/112789; T200401970; 44507

Dostupnosť: https://ir.ymlib.yonsei.ac.kr/handle/22282913/112789
https://doi.org/10.1093/ajcn/80.4.832

Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes

Autori: Koopal, Charlotte Bemelmans, Remy Marais, A. David a ďalší

Prispievatelia: Koopal, Charlotte Bemelmans, Remy Marais, A. David a ďalší

Zdroj: BMJ Case Reports. 12:e228199

Predmety: Adult, Hypertriglyceridemia, 2. Zero hunger, Pancreatitis/genetics, pancreatitis, General Medicine, Case Reports, Apolipoprotein A-V/genetics, Lipoprotein Lipase/deficiency, 3. Good health, Hyperlipoproteinemia Type I/genetics, Lipoprotein Lipase, 03 medical and health sciences, 0302 clinical medicine, Pancreatitis, cardiovascular medicine, Apolipoprotein A-V, Mutation, lipid disorders, Journal Article, Humans, genetics, Hypertriglyceridemia/genetics, Female, Hyperlipoproteinemia Type I

Popis súboru: application/pdf

Prístupová URL adresa: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453290
https://pubmed.ncbi.nlm.nih.gov/30948399
https://www.narcis.nl/publication/RecordID/oai%3Adspace.library.uu.nl%3A1874%2F389054
https://casereports.bmj.com/content/bmjcr/12/4/e228199.full.pdf
https://casereports.bmj.com/content/12/4/e228199
https://dspace.library.uu.nl/handle/1874/389054
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453290
https://www.ncbi.nlm.nih.gov/pubmed/30948399
https://dspace.library.uu.nl/handle/1874/389054

Genetic basis of hypertriglyceridaemia. ; CUHK electronic theses & dissertations collection

Prispievatelia: Chan, Lisa Yuen Shan. Chinese University of Hong Kong Graduate School. Division of Chemical Pathology.

Predmety: Hypertriglyceridemia--genetics

Popis súboru: electronic resource; remote; 1 online resource (xviii, 232 p. : ill.)

Relation: cuhk:342652; http://library.cuhk.edu.hk/record=b6073041

Dostupnosť: http://library.cuhk.edu.hk/record=b6073041
https://repository.lib.cuhk.edu.hk/en/item/cuhk-342652

Genetic basis of hypertriglyceridaemia.

Additional Titles: CUHK electronic theses & dissertations collection

Autori: Chan, Lisa Yuen Shan. Chinese University of Hong Kong Graduate School. Division of Chemical Pathology.

Témy: Hypertriglyceridemia--genetics, Text, bibliography

URL: https://repository.lib.cuhk.edu.hk/en/item/cuhk-342652