PMC Links for Nucleotide (Select 1724241864) - PMC

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Items: 14

Select item 64216871.

Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking

Wei-Wei Chen, Qi Yang, Xiao-Yao Li, Xiao-Lei Shi, Na Pu, Guo-Tao Lu, Zhi-Hui Tong, Jian-Min Chen, Wei-Qin Li

Lipids Health Dis. 2019; 18: 68. Published online 2019 Mar 18. doi: 10.1186/s12944-019-1012-9

PMCID:: PMC6421687

Abstract Article PDF–1.4M

Select item 63651522.

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient

Yihui Liu, Jiang Xu, Wanyun Tao, Rong Yu, Xinjiang Zhang

J Atheroscler Thromb. 2019 Feb 1; 26(2): 136–144. doi: 10.5551/jat.44537

PMCID:: PMC6365152

Abstract Article PDF–1.2M

Select item 61661253.

Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum

Benjamin S Roberts, Melissa A Babilonia‐Rosa, Lindsey J Broadwell, Ming Jing Wu, Saskia B Neher

EMBO J. 2018 Oct 1; 37(19): e97379. Published online 2018 Aug 1. doi: 10.15252/embj.201797379

PMCID:: PMC6166125

Abstract Article PDF–2.1M

Select item 54404814.

Genetics of Triglycerides and the Risk of Atherosclerosis

Jacqueline S. Dron, Robert A. Hegele

Curr Atheroscler Rep. 2017; 19(7): 31. Published online 2017 May 23. doi: 10.1007/s11883-017-0667-9

PMCID:: PMC5440481

Abstract Article PDF–353K

Select item 28198275.

Novel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia

Angelo B. Cefalù, Davide Noto, Maria Luisa Arpi, Fen Yin, Rossella Spina, Hannele Hilden, Carlo M. Barbagallo, Antonio Carroccio, Patrizia Tarugi, Sebastiano Squatrito, Riccardo Vigneri, Marja-Riitta Taskinen, Miklós Péterfy, Maurizio R. Averna

J Clin Endocrinol Metab. 2009 Nov; 94(11): 4584–4590. Published online 2009 Oct 9. doi: 10.1210/jc.2009-0594

Correction in:: J Clin Endocrinol Metab. January 1, 2010; 95(1): 465.

PMCID:: PMC2819827

Abstract Article

Select item 27598326.

A quantitative assay measuring the function of lipase maturation factor 1

Fen Yin, Mark H. Doolittle, Miklós Péterfy

J Lipid Res. 2009 Nov; 50(11): 2265–2269. doi: 10.1194/jlr.M900196-JLR200

PMCID:: PMC2759832

Abstract Article PDF–738K

Select item 70686837.

Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia

Wanee Plengpanich, Suwanna Muanpetch, Supannika Charoen, Arunrat Kiateprungvej, Weerapan Khovidhunkit

Mol Genet Metab Rep. 2020 Jun; 23: 100576. Published online 2020 Mar 10. doi: 10.1016/j.ymgmr.2020.100576

PMCID:: PMC7068683

Abstract Article PDF–256K

Select item 63382318.

Characterization of two novel pathogenic variants at compound heterozygous status in Lipase Maturation Factor 1 (LMF1) gene causing severe hypertriglyceridemia

Miklós Péterfy, Candy Bedoya, Carola Giacobbe, Carmen Pagano, Marco Gentile, Paolo Rubba, Giuliana Fortunato, Maria Donata Di Taranto

J Clin Lipidol. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: J Clin Lipidol. 2018 Sep-Oct; 12(5): 1253–1259. Published online 2018 Jul 25. doi: 10.1016/j.jacl.2018.07.008

PMCID:: PMC6338231

Abstract Article PDF–210K

Select item 48422669.

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

Itziar Lamiquiz-Moneo, Cristian Blanco-Torrecilla, Ana M. Bea, Rocío Mateo-Gallego, Sofía Pérez-Calahorra, Lucía Baila-Rueda, Ana Cenarro, Fernando Civeira, Isabel de Castro-Orós

Lipids Health Dis. 2016; 15: 82. Published online 2016 Apr 23. doi: 10.1186/s12944-016-0251-2

PMCID:: PMC4842266

Abstract Article PDF–576K

Select item 467866110.

Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder

BMC Res Notes. 2015; 8: 785. Published online 2015 Dec 15. doi: 10.1186/s13104-015-1783-7

PMCID:: PMC4678661

Abstract Article PDF–1.4M

Select item 398388511.

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

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

Lipids Health Dis. 2014; 13: 52. Published online 2014 Mar 19. doi: 10.1186/1476-511X-13-52

PMCID:: PMC3983885

Abstract Article PDF–798K

Select item 392477412.

THE METABOLISM OF TRIGLYCERIDE-RICH LIPOPROTEINS REVISITED; NEW PLAYERS, NEW INSIGHT

Geesje M. Dallinga-Thie, Remco Franssen, Hans L. Mooij, Maartje E. Visser, H. Carlijne Hassing, Frank Peelman, John J.P. Kastelein, Miklós Péterfy, Max Nieuwdorp

Atherosclerosis. Author manuscript; available in PMC 2014 Feb 14.

Published in final edited form as: Atherosclerosis. 2010 Jul; 211(1): 1–8. Published online 2009 Dec 29. doi: 10.1016/j.atherosclerosis.2009.12.027