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Items: 1 to 20 of 37

1.
Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants
Ursula Kassner, Bastian Salewsky, Marion Wühle-Demuth, Istvan Andras Szijarto, Thomas Grenkowitz, Priska Binner, Winfried März, Elisabeth Steinhagen-Thiessen, Ilja Demuth
Eur J Hum Genet. 2015 Sep; 23(9): 1259–1261. Published online 2015 Jan 14. doi: 10.1038/ejhg.2014.295
PMCID:
PMC4538214
AbstractArticlePDF–373K
2.
Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
Khalid Khalaf Alharbi, May Salem Alnbaheen, Fawiziah Khalaf Alharbi, Rana M. Hasanato, Imran Ali Khan
Ann Saudi Med. 2017 Nov-Dec; 37(6): 425–432. doi: 10.5144/0256-4947.2017.425
PMCID:
PMC6074118
AbstractArticlePDF–583K
3.
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
Xiaoyao Li, Qi Yang, Xiaolei Shi, Weiwei Chen, Na Pu, Weiqin Li, Jieshou Li
Lipids Health Dis. 2018; 17: 144. Published online 2018 Jun 19. doi: 10.1186/s12944-018-0789-2
PMCID:
PMC6009947
AbstractArticlePDF–1.5M
4.
Biochemical Analysis of the LPL Truncation Variant, LPLS447X Reveals Increased Lipoprotein Uptake
Cassandra K. Hayne, Michael J. Lafferty, Brian J. Eglinger, John P. Kane, Saskia B. Neher
Biochemistry. Author manuscript; available in PMC 2018 Mar 13.
Published in final edited form as: Biochemistry. 2017 Jan 24; 56(3): 525–533. Published online 2017 Jan 9. doi: 10.1021/acs.biochem.6b00945
PMCID:
PMC5848218
AbstractArticlePDF–1.9M
5.
GPIHBP1 and plasma triglyceride metabolism
Loren G. Fong, Stephen G. Young, Anne P. Beigneux, André Bensadoun, Monika Oberer, Haibo Jiang, Michael Ploug
Trends Endocrinol Metab. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: Trends Endocrinol Metab. 2016 Jul; 27(7): 455–469. Published online 2016 May 14. doi: 10.1016/j.tem.2016.04.013
PMCID:
PMC4927088
AbstractArticlePDF–1.7M
6.
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
AbstractArticlePDF–576K
7.
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia
Vladimir Espinosa Angarica, Modesto Orozco, Javier Sancho
Hum Mol Genet. 2016 Mar 15; 25(6): 1233–1246. Published online 2016 Jan 10. doi: 10.1093/hmg/ddw004
PMCID:
PMC4764198
AbstractArticlePDF–1.8M
8.
A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis
Jingjing Jiang, Yuhui Wang, Yan Ling, Abudurexiti Kayoumu, George Liu, Xin Gao
Lipids Health Dis. 2016; 15: 12. Published online 2016 Jan 16. doi: 10.1186/s12944-015-0171-6
Correction in:
Lipids Health Dis. 2016; 15: 42.
PMCID:
PMC4715280
AbstractArticlePDF–1.7M
9.
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity
J. A. Fernández-Higuero, A. Etxebarria, A. Benito-Vicente, A. C. Alves, J. L. R. Arrondo, H. Ostolaza, M. Bourbon, C. Martin
Sci Rep. 2015; 5: 18184. Published online 2015 Dec 8. doi: 10.1038/srep18184
PMCID:
PMC4672294
AbstractArticlePDF–1.0M
10.
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
AbstractArticlePDF–1.2M
11.
GPIHBP1 Missense Mutations Often Cause Multimerization of GPIHBP1 and Thereby Prevent Lipoprotein Lipase Binding
Anne P. Beigneux, Loren G. Fong, André Bensadoun, Brandon S.J. Davies, Monika Oberer, Henrik Gårdsvoll, Michael Ploug, Stephen G. Young
Circ Res. Author manuscript; available in PMC 2016 Feb 13.
Published in final edited form as: Circ Res. 2015 Feb 13; 116(4): 624–632. Published online 2014 Nov 11. doi: 10.1161/CIRCRESAHA.116.305085
PMCID:
PMC4329087
AbstractArticlePDF–804K
12.
Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment
Aitor Etxebarria, Asier Benito-Vicente, Ana C. Alves, Helena Ostolaza, Mafalda Bourbon, Cesar Martin
PLoS One. 2014; 9(11): e112677. Published online 2014 Nov 11. doi: 10.1371/journal.pone.0112677
PMCID:
PMC4227843
AbstractArticlePDF–2.6M
13.
Association of angiotensin converting enzyme gene insertion/deletion polymorphism and familial hypercholesterolemia in the Saudi population
Khalid K Alharbi, Tarek S Kashour, Wejdan Al-Hussaini, May Salem Al-Nbaheen, Sarar Mohamed, Rana MW Hasanato, Waleed Tamimi, Mohammed Yahya Al-Naami, Imran Ali Khan
Lipids Health Dis. 2013; 12: 177. Published online 2013 Dec 1. doi: 10.1186/1476-511X-12-177
PMCID:
PMC4220775
AbstractArticlePDF–217K
14.
Multimerization of Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1) and Familial Chylomicronemia from a Serine-to-Cysteine Substitution in GPIHBP1 Ly6 Domain
Wanee Plengpanich, Stephen G. Young, Weerapan Khovidhunkit, André Bensadoun, Hirankorn Karnman, Michael Ploug, Henrik Gårdsvoll, Calvin S. Leung, Oludotun Adeyo, Mikael Larsson, Suwanna Muanpetch, Supannika Charoen, Loren G. Fong, Sathit Niramitmahapanya, Anne P. Beigneux
J Biol Chem. 2014 Jul 11; 289(28): 19491–19499. Published online 2014 May 20. doi: 10.1074/jbc.M114.558528
PMCID:
PMC4094059
AbstractArticlePDF–1.1M
15.
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
AbstractArticlePDF–798K
16.
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia
Gunilla Olivecrona, Ewa Ehrenborg, Henrik Semb, Elena Makoveichuk, Anna Lindberg, Michael R. Hayden, Peter Gin, Brandon S. J. Davies, Michael M. Weinstein, Loren G. Fong, Anne P. Beigneux, Stephen G. Young, Thomas Olivecrona, Olle Hernell
J Lipid Res. 2010 Jun; 51(6): 1535–1545. doi: 10.1194/jlr.M002717
PMCID:
PMC3035517
AbstractArticlePDF–976K
17.
The Expression of GPIHBP1, an Endothelial Cell Binding Site for Lipoprotein Lipase and Chylomicrons, Is Induced by Peroxisome Proliferator-Activated Receptor-γ
Brandon S. J. Davies, Hironori Waki, Anne P. Beigneux, Emily Farber, Michael M. Weinstein, Damien C. Wilpitz, Li-Jung Tai, Ronald M. Evans, Loren G. Fong, Peter Tontonoz, Stephen G. Young
Mol Endocrinol. 2008 Nov; 22(11): 2496–2504. Published online 2008 Sep 11. doi: 10.1210/me.2008-0146
Correction in:
Mol Endocrinol. December 1, 2008; 22(12): 2766.
PMCID:
PMC2582544
AbstractArticle
18.
Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)
Jian Wang, Robert A Hegele
Lipids Health Dis. 2007; 6: 23. Published online 2007 Sep 20. doi: 10.1186/1476-511X-6-23
PMCID:
PMC2039732
AbstractArticlePDF–242K
19.
Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency
Perla Graciela Rodríguez-Gutiérrez, Ana Gabriela Colima-Fausto, Paola Montserrat Zepeda-Olmos, Teresita de Jesús Hernández-Flores, Juan Ramón González-García, María Teresa Magaña-Torres
Int J Mol Sci. 2023 Jan; 24(1): 465. Published online 2022 Dec 27. doi: 10.3390/ijms24010465
PMCID:
PMC9820378
AbstractArticlePDF–1.3M
20.
Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol
Karen Birkenhead, David Sullivan, Claire Trumble, Catherine Spinks, Shubha Srinivasan, Andrew Partington, Luke Elias, Charlotte Mary Hespe, Gabrielle Fleming, Stephen Li, Madeline Calder, Elizabeth Robertson, Ronald Trent, Mitchell N Sarkies
BMJ Open. 2024; 14(5): e082699. Published online 2024 May 1. doi: 10.1136/bmjopen-2023-082699
PMCID:
PMC11086381
AbstractArticlePDF–2.9M

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