LPL c.1019-533A>C

Variant ID: 8-19816238-A-C

NM_000237.2(LPL):c.1019-533A>C

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs295
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension.

Children (Basel, Switzerland)
Močnik, Mirjam M; Zagradišnik, Boris B; Marčun Varda, Nataša N
Publication Date: 2022-08-21

Variant appearance in text: rs295
PubMed Link: 36010152
Variant Present in the following documents:
  • Main text
  • children-09-01262.pdf
View BVdb publication page



The Synthesis and Glycoside Formation of Polyfluorinated Carbohydrates.

Chemical Reviews
Huonnic, Kler K; Linclau, Bruno B
Publication Date: 2022-10-26

Variant appearance in text: rs295
PubMed Link: 35613331
Variant Present in the following documents:
  • cr2c00086.pdf
View BVdb publication page



Identification and Characterization of Variants in Intron 6 of the LPL Gene Locus among a Sample of the Kuwaiti Population.

Genes
Al-Shammari, Reem T RT; Al-Serri, Ahmad E AE; Barhoush, Sahar A SA; Al-Bustan, Suzanne A SA
Publication Date: 2022-04-09

Variant appearance in text: LPL: 1019-533A>C; rs295
PubMed Link: 35456470
Variant Present in the following documents:
  • Main text
  • genes-13-00664.pdf
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Genetic association of LPL rs326 with BMI among the Kuwaiti population.

Cardiovascular Endocrinology & Metabolism
Malek, Sara H SH; Al-Serri, Ahmad E AE; Al-Bustan, Suzanne A SA
Publication Date: 2021-12

Variant appearance in text: rs295
PubMed Link: 34765892
Variant Present in the following documents:
  • Main text
  • xce-10-215.pdf
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Current translational potential and underlying molecular mechanisms of necroptosis.

Cell Death & Disease
Molnár, Tamás T; Mázló, Anett A; Tslaf, Vera V; Szöllősi, Attila Gábor AG; Emri, Gabriella G; Koncz, Gábor G
Publication Date: 2019-11-12

Variant appearance in text: rs295
PubMed Link: 31719524
Variant Present in the following documents:
  • 41419_2019_Article_2094.pdf
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Evaluation of the appropriate predictive contributor and diagnostic threshold for the cardio-metabolic syndrome in Chinese Uyghur adults.

Bmc Public Health
Zhang, Zhoubin Z; Fan, Shujun S; Xue, Zhenxiang Z; Yuan, Jun J; Zhou, Ziyan Z; Wang, Tongmin T; Liu, Junling J; Bawudun, Ayxamgul A; Nurmamat, Nazibam N; Wang, Yuzhong Y; Yang, Zhicong Z
Publication Date: 2019-05-21

Variant appearance in text: rs295
PubMed Link: 31113427
Variant Present in the following documents:
  • Main text
  • 12889_2019_Article_6803.pdf
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A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels.

Plos One
Al-Bustan, Suzanne A SA; Al-Serri, Ahmad A; Annice, Babitha G BG; Alnaqeeb, Majed A MA; Al-Kandari, Wafa Y WY; Dashti, Mohammed M
Publication Date: 2018

Variant appearance in text: rs295
PubMed Link: 29438437
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bright Side of Lignin Depolymerization: Toward New Platform Chemicals.

Chemical Reviews
Sun, Zhuohua Z; Fridrich, Bálint B; de Santi, Alessandra A; Elangovan, Saravanakumar S; Barta, Katalin K
Publication Date: 2018-01-24

Variant appearance in text: rs295
PubMed Link: 29337543
Variant Present in the following documents:
  • cr7b00588.pdf
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Genetics of Insulin Resistance and the Metabolic Syndrome.

Current Cardiology Reports
Brown, Audrey E AE; Walker, Mark M
Publication Date: 2016-08

Variant appearance in text: rs295
PubMed Link: 27312935
Variant Present in the following documents:
  • Main text
  • 11886_2016_Article_755.pdf
View BVdb publication page



The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

American Journal Of Human Genetics
Groza, Tudor T; Köhler, Sebastian S; Moldenhauer, Dawid D; Vasilevsky, Nicole N; Baynam, Gareth G; Zemojtel, Tomasz T; Schriml, Lynn Marie LM; Kibbe, Warren Alden WA; Schofield, Paul N PN; Beck, Tim T; Vasant, Drashtti D; Brookes, Anthony J AJ; Zankl, Andreas A; Washington, Nicole L NL; Mungall, Christopher J CJ; Lewis, Suzanna E SE; Haendel, Melissa A MA; Parkinson, Helen H; Robinson, Peter N PN
Publication Date: 2015-07-02

Variant appearance in text: rs295
PubMed Link: 26119816
Variant Present in the following documents:
  • Main text
View BVdb publication page



Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels.

European Journal Of Human Genetics : Ejhg
Pirim, Dilek D; Wang, Xingbin X; Radwan, Zaheda H ZH; Niemsiri, Vipavee V; Bunker, Clareann H CH; Barmada, M Michael MM; Kamboh, M Ilyas MI; Demirci, F Yesim FY
Publication Date: 2015-09

Variant appearance in text: rs295
PubMed Link: 25626708
Variant Present in the following documents:
  • Main text
  • ejhg2014268a.pdf
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Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs295
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
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Lipoprotein lipase gene sequencing and plasma lipid profile.

Journal Of Lipid Research
Pirim, Dilek D; Wang, Xingbin X; Radwan, Zaheda H ZH; Niemsiri, Vipavee V; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2014-01

Variant appearance in text: rs295
PubMed Link: 24212298
Variant Present in the following documents:
  • Main text
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Tomato SlDREB gene restricts leaf expansion and internode elongation by downregulating key genes for gibberellin biosynthesis.

Journal Of Experimental Botany
Li, Jinhua J; Sima, Wei W; Ouyang, Bo B; Wang, Taotao T; Ziaf, Khurram K; Luo, Zhidan Z; Liu, Lifeng L; Li, Hanxia H; Chen, Mingluan M; Huang, Yunqing Y; Feng, Yuqi Y; Hao, Yanhong Y; Ye, Zhibiao Z
Publication Date: 2012-11

Variant appearance in text: rs295
PubMed Link: 23077200
Variant Present in the following documents:
  • Main text
  • ers295.pdf
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Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.

Circulation. Cardiovascular Genetics
Kristiansson, Kati K; Perola, Markus M; Tikkanen, Emmi E; Kettunen, Johannes J; Surakka, Ida I; Havulinna, Aki S AS; Stancáková, Alena A; Barnes, Chris C; Widen, Elisabeth E; Kajantie, Eero E; Eriksson, Johan G JG; Viikari, Jorma J; Kähönen, Mika M; Lehtimäki, Terho T; Raitakari, Olli T OT; Hartikainen, Anna-Liisa AL; Ruokonen, Aimo A; Pouta, Anneli A; Jula, Antti A; Kangas, Antti J AJ; Soininen, Pasi P; Ala-Korpela, Mika M; Männistö, Satu S; Jousilahti, Pekka P; Bonnycastle, Lori L LL; Järvelin, Marjo-Riitta MR; Kuusisto, Johanna J; Collins, Francis S FS; Laakso, Markku M; Hurles, Matthew E ME; Palotie, Aarno A; Peltonen, Leena L; Ripatti, Samuli S; Salomaa, Veikko V
Publication Date: 2012-04-01

Variant appearance in text: rs295
PubMed Link: 22399527
Variant Present in the following documents:
  • Main text
View BVdb publication page



A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

Diabetes
Kraja, Aldi T AT; Vaidya, Dhananjay D; Pankow, James S JS; Goodarzi, Mark O MO; Assimes, Themistocles L TL; Kullo, Iftikhar J IJ; Sovio, Ulla U; Mathias, Rasika A RA; Sun, Yan V YV; Franceschini, Nora N; Absher, Devin D; Li, Guo G; Zhang, Qunyuan Q; Feitosa, Mary F MF; Glazer, Nicole L NL; Haritunians, Talin T; Hartikainen, Anna-Liisa AL; Knowles, Joshua W JW; North, Kari E KE; Iribarren, Carlos C; Kral, Brian B; Yanek, Lisa L; O'Reilly, Paul F PF; McCarthy, Mark I MI; Jaquish, Cashell C; Couper, David J DJ; Chakravarti, Aravinda A; Psaty, Bruce M BM; Becker, Lewis C LC; Province, Michael A MA; Boerwinkle, Eric E; Quertermous, Thomas T; Palotie, Leena L; Jarvelin, Marjo-Riitta MR; Becker, Diane M DM; Kardia, Sharon L R SL; Rotter, Jerome I JI; Chen, Yii-Der Ida YD; Borecki, Ingrid B IB
Publication Date: 2011-04

Variant appearance in text: rs295
PubMed Link: 21386085
Variant Present in the following documents:
  • Main text
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Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar.

Human Molecular Genetics
Smith, Andrew J P AJ; Palmen, Jutta J; Putt, Wendy W; Talmud, Philippa J PJ; Humphries, Steve E SE; Drenos, Fotios F
Publication Date: 2010-10-15

Variant appearance in text: rs295
PubMed Link: 20650961
Variant Present in the following documents:
  • supp_ddq308_ddq308supp.pdf
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Incorporating covariates into multipoint association mapping in the case-parent design.

Human Heredity
Chiu, Yen-Feng YF; Liang, Kung-Yee KY; Pan, Wen-Harn WH
Publication Date: 2010

Variant appearance in text: rs295
PubMed Link: 20332647
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

Plos Genetics
Deo, Rahul C RC; Reich, David D; Tandon, Arti A; Akylbekova, Ermeg E; Patterson, Nick N; Waliszewska, Alicja A; Kathiresan, Sekar S; Sarpong, Daniel D; Taylor, Herman A HA; Wilson, James G JG
Publication Date: 2009-01

Variant appearance in text: rs295
PubMed Link: 19148283
Variant Present in the following documents:
  • Main text
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Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.

Nutrition & Metabolism
Ruaño, Gualberto G; Windemuth, Andreas A; Kocherla, Mohan M; Holford, Theodore T; Fernandez, Maria Luz ML; Forsythe, Cassandra E CE; Wood, Richard J RJ; Kraemer, William J WJ; Volek, Jeff S JS
Publication Date: 2006-05-15

Variant appearance in text: rs295
PubMed Link: 16700901
Variant Present in the following documents:
  • Main text
  • 1743-7075-3-20.pdf
View BVdb publication page