Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 73 Records) |
Query Trace: Hypertriglyceridemia and LPL[original query] |
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Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis. Lipids in health and disease 2018 6 17 (1): 144. Li Xiaoyao, Yang Qi, Shi Xiaolei, Chen Weiwei, Pu Na, Li Weiqin, Li Jiesh |
A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient. Journal of atherosclerosis and thrombosis 2018 6 26 (2): 136-144. Liu Yihui, Xu Jiang, Tao Wanyun, Yu Rong, Zhang Xinjia |
Acute pancreatitis secondary to oral contraceptive-induced hypertriglyceridemia: a case report. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2018 5 34 (11): 930-932. Stumpf Matheo Augusto Morandi, Kluthcovsky Ana Claudia Garabeli Cavalli, Okamoto Jefferson Matsuiti, Schrut Gianna Carla Alberti, Cajoeiro Patricia de Oliveira, Chacra Ana Paula Marte, Bizeli Ricar |
Magnolol-mediated regulation of plasma triglyceride through affecting lipoprotein lipase activity in apolipoprotein A5 knock-in mice. PloS one 2018 2 13 (2): e0192740. Chang Chun-Kai, Lin Xiu-Ru, Lin Yen-Lin, Fang Woei-Horng, Lin Shu-Wha, Chang Sui-Yuan, Kao Jau-Tsu |
Clinical whole exome sequencing in severe hypertriglyceridemia. Clinica chimica acta; international journal of clinical chemistry 2018 11 488 31-39. Tada Hayato, Nomura Akihiro, Okada Hirofumi, Nakahashi Takuya, Nozue Tsuyoshi, Hayashi Kenshi, Nohara Atsushi, Yagi Kunimasa, Inazu Akihiro, Michishita Ichiro, Mabuchi Hiroshi, Yamagishi Masakazu, Kawashiri Masa-A |
Severe hypertriglyceridemia is primarily polygenic. Journal of clinical lipidology 0 13 (1): 80-88. Dron Jacqueline S, Wang Jian, Cao Henian, McIntyre Adam D, Iacocca Michael A, Menard Jyler R, Movsesyan Irina, Malloy Mary J, Pullinger Clive R, Kane John P, Hegele Robert |
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis. EBioMedicine 2018 Dec 38 171-177. Jin Jing-Lu, Sun Di, Cao Ye-Xuan, Zhang Hui-Wen, Guo Yuan-Lin, Wu Na-Qiong, Zhu Cheng-Gang, Gao Ying, Dong Qiu-Ting, Liu Geng, Dong Qian, Li Jian-J |
Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study. Journal of clinical lipidology 2018 10 12 (5): 1234-1243.e5. Blom Dirk J, O'Dea Louis, Digenio Andres, Alexander Veronica J, Karwatowska-Prokopczuk Ewa, Williams Karren R, Hemphill Linda, Muñiz-Grijalvo Ovidio, Santos Raul D, Baum Seth, Witztum Joseph |
Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia. Journal of lipid research 2019 9 60 (11): 1953-1958. Dron Jacqueline S, Wang Jian, McIntyre Adam D, Cao Henian, Robinson John F, Duell P Barton, Manjoo Priya, Feng James, Movsesyan Irina, Malloy Mary J, Pullinger Clive R, Kane John P, Hegele Robert |
Targeted sequencing of candidate genes of dyslipidemia in Punjabi Sikhs: Population-specific rare variants in GCKR promote ectopic fat deposition. PloS one 2019 8 14 (8): e0211661. Sanghera Dharambir K, Hopkins Ruth, Malone-Perez Megan W, Bejar Cynthia, Tan Chengcheng, Mussa Huda, Whitby Paul, Fowler Ben, Rao Chinthapally V, Fung KarMing A, Lightfoot Stan, Frazer J Kimb |
Gender-related relation between metabolic syndrome and S447X and HindIII polymorphisms of lipoprotein lipase gene in northern Iran. Gene 2019 Apr 706 13-18. Alinaghian Nazila, Abdollahi Elaheh, Torab Mansour, Khodaparast Maral, Zamani Farhad, Rahimi-Moghaddam Parvan |
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking. Lipids in health and disease 2019 3 18 (1): 68. Chen Wei-Wei, Yang Qi, Li Xiao-Yao, Shi Xiao-Lei, Pu Na, Lu Guo-Tao, Tong Zhi-Hui, Chen Jian-Min, Li Wei-Q |
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes. Arteriosclerosis, thrombosis, and vascular biology 2019 10 39 (12): 2531-2541. D'Erasmo Laura, Di Costanzo Alessia, Cassandra Francesca, Minicocci Ilenia, Polito Luca, Montali Anna, Ceci Fabrizio, Arca Marcel |
Deciphering the role of V200A and N291S mutations leading to LPL deficiency. Atherosclerosis 2019 1 282 45-51. Botta Margherita, Maurer Elisabeth, Ruscica Massimiliano, Romeo Stefano, Stulnig Thomas M, Pingitore Pie |
Genetic Variants Associated With Increased Plasma Levels of Triglycerides, via Effects on the Lipoprotein Lipase Pathway, Increase Risk of Acute Pancreatitis. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 Aug . Hansen Signe E J, Madsen Christian M, Varbo Anette, Tybjærg-Hansen Anne, Nordestgaard Børge |
Genetics of Hypertriglyceridemia. Frontiers in endocrinology 2020 8 11 455. Dron Jacqueline S, Hegele Robert |
Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia. Journal of atherosclerosis and thrombosis 2020 3 27 (12): 1264-1277. Matsunaga Akira, Nagashima Mariko, Yamagishi Hideko, Saku Keiji |
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia. Molecular genetics and metabolism reports 2020 3 23 100576. Plengpanich Wanee, Muanpetch Suwanna, Charoen Supannika, Kiateprungvej Arunrat, Khovidhunkit Weerap |
Ancestry-specific profiles of genetic determinants of severe hypertriglyceridemia. Journal of clinical lipidology 2020 Nov . Gill Praneet K, Dron Jacqueline S, Dilliott Allison A, McIntyre Adam D, Cao Henian, Wang Jian, Movsesyan Irina G, Malloy Mary J, Pullinger Clive R, Kane John P, Hegele Robert |
Rare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial Chylomicronemia Syndrome. The Journal of clinical endocrinology and metabolism 2021 5 106 (9): e3473-e3482. Paquette Martine, Amyot Julie, Fantino Manon, Baass Alexis, Bernard Soph |
Novel PPARG mutation in multiple family members with chylomicronemia. Journal of clinical lipidology 2021 4 15 (3): 431-434. Glodowski Michele, Christen Shannon, Saxon David R, Hegele Robert A, Eckel Robert |
Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia. Lipids in health and disease 2021 2 20 (1): 14. Cruz-Bautista Ivette, Huerta-Chagoya Alicia, Moreno-Macías Hortensia, Rodríguez-Guillén Rosario, Ordóñez-Sánchez María Luisa, Segura-Kato Yayoi, Mehta Roopa, Almeda-Valdés Paloma, Gómez-Munguía Lizeth, Ruiz-De Chávez Ximena, Rosas-Flota Ximena, Andrade-Amado Arali, Bernal-Barroeta Bárbara, López-Carrasco María Guadalupe, Guillén-Pineda Luz Elizabeth, López-Estrada Angelina, Elías-López Daniel, Martagón-Rosado Alexandro J, Gómez-Velasco Donají, Lam-Chung Cesar Ernesto, Bello-Chavolla Omar Yaxmehen, Del Razo-Olvera Fabiola, Cetina-Pérez Lucely D, Acosta-Rodríguez José Luis, Tusié-Luna María Teresa, Aguilar-Salinas Carlos |
Polygenic Risk of Hypertriglyceridemia Is Modified by BMI. International journal of molecular sciences 2022 9 23 (17): . Esteve-Luque Virginia, Fanlo-Maresma Marta, Padró-Miquel Ariadna, Corbella Emili, Rivas-Regaira Maite, Pintó Xavier, Candás-Estébanez Beatr |
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date. Lipids in health and disease 2023 8 22 (1): 128. Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N Cooper, Jian-Min Chen, Weiqin |
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial. Nature medicine 2023 3 . Rosenson Robert S, Gaudet Daniel, Ballantyne Christie M, Baum Seth J, Bergeron Jean, Kershaw Erin E, Moriarty Patrick M, Rubba Paolo, Whitcomb David C, Banerjee Poulabi, Gewitz Andrew, Gonzaga-Jauregui Claudia, McGinniss Jennifer, Ponda Manish P, Pordy Robert, Zhao Jian, Rader Daniel |
Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome. Journal of clinical lipidology 2023 2 . Rioja José, Ariza María José, Benítez-Toledo María José, Espíldora-Hernández Javier, Coca-Prieto Inmaculada, Arrobas-Velilla Teresa, Camacho Ana, Olivecrona Gunilla, Sánchez-Chaparro Miguel Ángel, Valdivielso Ped |
Sequence Variant Analysis of the APOCII Locus among an Arab Cohort. International journal of molecular sciences 2023 11 24 (22): . Suzanne A Al-Bustan, Maryam H Alrashid, Ahmad E Al-Serri, Babitha G Annice, Hussain M Bahbaha |
Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia. Journal of clinical lipidology 2023 11 . Thea Bismo Strøm, Anders Aune Tveita, Martin Prøven Bogsrud, Trond P Ler |
Lipoprotein Lipase/Apolipoprotein Cll Gene Polymorphism in Kurdish Patients With Severe Hypertriglyceridemia. Cureus 2023 11 15 (10): e46829. Kajeen Hussein, Sherwan Salih, Dhia Al-Timi |
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE. Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2023 1 51 (1): 10-21. Abedi Amir Hossein, Y?ld?r?m ?im?ir Ilg?n, Bayram Fahri, Onay Huseyin, Özgür Su, Mcintyre Adam, Toth Peter, Hegele Robe |
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- Page last updated:Apr 16, 2024
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