A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis-Reference-Cited by-同舟云学术

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A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis

Published:2014-03-19 Issue:1 Volume:13 Page:
ISSN:1476-511X
Container-title:Lipids in Health and Disease
language:en
Short-container-title:Lipids Health Dis

Author:

Chen Tan-Zhou,Xie Sai-Li,Jin Rong,Huang Zhi-Ming

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1186/1476-511X-13-52.pdf

Reference20 articles.

1. Fisher RM, Humphries SE, Talmud PJ: Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Atherosclerosis. 1997, 135: 145-59. 10.1016/S0021-9150(97)00199-8

2. Pennacchio LA, Rubin EM: Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice. Arterioscler Thromb Vasc Biol. 2003, 23: 529-34. 10.1161/01.ATV.0000054194.78240.45

3. Fojo SS, Brewer HB: Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. J Intern Med. 1992, 231: 669-677. 10.1111/j.1365-2796.1992.tb01256.x

4. Peterfy M, Ben-Zee O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH: Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet. 2007, 39: 1483-7. 10.1038/ng.2007.24

5. Olivecrona G, Ehrenborg E, Semb H, Makoveichuk E, Lindberg A, Hayden MR, Gin P, Davies BS, Weinstein MM, Fong LG, Beigneux AP, Young SG, Olivecrona T, Hernell O: Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. J Lipid Res. 2010, 51: 1535-45. 10.1194/jlr.M002717

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1. Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review;Frontiers in Endocrinology;2024-06-07

2. Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population;Archives of Endocrinology and Metabolism;2024

3. Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis;Kidney International Reports;2023-11

4. Pseudohyponatremia: Mechanism, Diagnosis, Clinical Associations and Management;Journal of Clinical Medicine;2023-06-15

5. Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia;Frontiers in Endocrinology;2022-07-18

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