LPL c.435G>A ;(p.E145=)

Variant ID: 8-19810826-G-A

NM_000237.2(LPL):c.435G>A;(p.E145=)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Molecular Catalysis of Energy Relevance in Metal-Organic Frameworks: From Higher Coordination Sphere to System Effects.

Chemical Reviews
Suremann, Nina F NF; McCarthy, Brian D BD; Gschwind, Wanja W; Kumar, Amol A; Johnson, Ben A BA; Hammarström, Leif L; Ott, Sascha S
Publication Date: 2023-05-15

Variant appearance in text: rs248
PubMed Link: 37184577
Variant Present in the following documents:
  • cr2c00587.pdf
View BVdb publication page



Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

International Journal Of Molecular Sciences
Rodríguez-Gutiérrez, Perla Graciela PG; Colima-Fausto, Ana Gabriela AG; Zepeda-Olmos, Paola Montserrat PM; Hernández-Flores, Teresita de Jesús TJ; González-García, Juan Ramón JR; Magaña-Torres, María Teresa MT
Publication Date: 2022-12-27

Variant appearance in text: LPL: 435G>A; E145=; rs248
PubMed Link: 36613909
Variant Present in the following documents:
  • ijms-24-00465.pdf
View BVdb publication page



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: rs248
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: LPL: E145E
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



3D-printed microrobots from design to translation.

Nature Communications
Dabbagh, Sajjad Rahmani SR; Sarabi, Misagh Rezapour MR; Birtek, Mehmet Tugrul MT; Seyfi, Siamak S; Sitti, Metin M; Tasoglu, Savas S
Publication Date: 2022-10-05

Variant appearance in text: rs248
PubMed Link: 36198675
Variant Present in the following documents:
  • 41467_2022_Article_33409.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: LPL: E145E; rs248
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Emerging Function of Ecotype-Specific Splicing in the Recruitment of Commensal Microbiome.

International Journal Of Molecular Sciences
Li, Yue-Han YH; Yang, Yuan-You YY; Wang, Zhi-Gang ZG; Chen, Zhuo Z
Publication Date: 2022-04-27

Variant appearance in text: rs248
PubMed Link: 35563250
Variant Present in the following documents:
  • Main text
View BVdb publication page



LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine
Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL
Publication Date: 2022-03-03

Variant appearance in text: LPL: 435G>A; Glu145=; rs248
PubMed Link: 35241092
Variant Present in the following documents:
  • Main text
  • 12967_2022_Article_3314.pdf
  • 12967_2022_3314_MOESM2_ESM.pdf
View BVdb publication page



Significance of the Diversification of Wheat Species for the Assembly and Functioning of the Root-Associated Microbiome.

Frontiers In Microbiology
Gruet, Cécile C; Muller, Daniel D; Moënne-Loccoz, Yvan Y
Publication Date: 2021

Variant appearance in text: rs248
PubMed Link: 35058901
Variant Present in the following documents:
  • Main text
  • fmicb-12-782135.pdf
View BVdb publication page



Understanding and Exploiting Post-Translational Modifications for Plant Disease Resistance.

Biomolecules
Gough, Catherine C; Sadanandom, Ari A
Publication Date: 2021-07-30

Variant appearance in text: rs248
PubMed Link: 34439788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Magnetically Driven Micro and Nanorobots.

Chemical Reviews
Zhou, Huaijuan H; Mayorga-Martinez, Carmen C CC; Pané, Salvador S; Zhang, Li L; Pumera, Martin M
Publication Date: 2021-04-28

Variant appearance in text: rs248
PubMed Link: 33787235
Variant Present in the following documents:
  • cr0c01234.pdf
View BVdb publication page



Reconsidering anion inhibitors in the general context of drug design studies of modulators of activity of the classical enzyme carbonic anhydrase.

Journal Of Enzyme Inhibition And Medicinal Chemistry
Nocentini, Alessio A; Angeli, Andrea A; Carta, Fabrizio F; Winum, Jean-Yves JY; Zalubovskis, Raivis R; Carradori, Simone S; Capasso, Clemente C; Donald, William A WA; Supuran, Claudiu T CT
Publication Date: 2021-12

Variant appearance in text: rs248
PubMed Link: 33615947
Variant Present in the following documents:
  • IENZ_36_1882453.pdf
View BVdb publication page



Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Global Heart
Alnouri, Fahad F; Al-Allaf, Faisal A FA; Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Alabdullah, Moheeb M; Alammari, Dalal D; Alanazi, Menwar M; Alkaf, Fahmi F; Allehyani, Abeer A; Alotaiby, Mohammad A MA; Alshehri, Abdullah A; Bouazzaoui, Abdellatif A; Karrar, Hussam H; Taher, Mohiuddin M MM
Publication Date: 2020-02-28

Variant appearance in text: rs248
PubMed Link: 32489792
Variant Present in the following documents:
  • Main text
  • gh-15-1-759.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LPL: 435G>A; Glu145=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LPL: 435G>A; Glu145=; rs248
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



MRE11-RAD50-NBS1 promotes Fanconi Anemia R-loop suppression at transcription-replication conflicts.

Nature Communications
Chang, Emily Yun-Chia EY; Tsai, Shuhe S; Aristizabal, Maria J MJ; Wells, James P JP; Coulombe, Yan Y; Busatto, Franciele F FF; Chan, Yujia A YA; Kumar, Arun A; Dan Zhu, Yi Y; Wang, Alan Ying-Hsu AY; Fournier, Louis-Alexandre LA; Hieter, Philip P; Kobor, Michael S MS; Masson, Jean-Yves JY; Stirling, Peter C PC
Publication Date: 2019-09-19

Variant appearance in text: rs248
PubMed Link: 31537797
Variant Present in the following documents:
  • 41467_2019_Article_12271.pdf
View BVdb publication page



B Cells and B Cell Blasts Withstand Cryopreservation While Retaining Their Functionality for Producing Antibody.

Cells
Fecher, Philipp P; Caspell, Richard R; Naeem, Villian V; Karulin, Alexey Y AY; Kuerten, Stefanie S; Lehmann, Paul V PV
Publication Date: 2018-05-31

Variant appearance in text: rs248
PubMed Link: 29857548
Variant Present in the following documents:
  • cells-07-00050.pdf
View BVdb publication page



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: rs248
PubMed Link: 29438437
Variant Present in the following documents:
  • Main text
  • pone.0192617.pdf
  • pone.0192617.s002.pdf
View BVdb publication page



Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One
Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F
Publication Date: 2017

Variant appearance in text: LPL: 435G>A; E145E; rs248
PubMed Link: 28953935
Variant Present in the following documents:
  • pone.0185396.s001.xls, sheet 2
  • pone.0185396.s001.xls, sheet 3
View BVdb publication page



Immune and myodegenerative pathomechanisms in inclusion body myositis.

Annals Of Clinical And Translational Neurology
Keller, Christian W CW; Schmidt, Jens J; Lünemann, Jan D JD
Publication Date: 2017-06

Variant appearance in text: rs248
PubMed Link: 28589170
Variant Present in the following documents:
  • ACN3-4-422.pdf
View BVdb publication page



Bicodon bias can determine the role of synonymous SNPs in human diseases.

Bmc Genomics
McCarthy, Christina C; Carrea, Alejandra A; Diambra, Luis L
Publication Date: 2017-03-13

Variant appearance in text: rs248
PubMed Link: 28288557
Variant Present in the following documents:
  • Main text
  • 12864_2017_3609_MOESM2_ESM.pdf
  • 12864_2017_Article_3609.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: LPL: E145E; rs248
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



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: rs248
PubMed Link: 24212298
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology
Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL
Publication Date: 2011-07-10

Variant appearance in text: rs248
PubMed Link: 22229114
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs248
PubMed Link: 20650961
Variant Present in the following documents:
  • Main text
  • supp_ddq308_ddq308supp.pdf
  • ddq308.pdf
View BVdb publication page



Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos.

The American Journal Of Clinical Nutrition
Voruganti, V Saroja VS; Cole, Shelley A SA; Ebbesson, Sven O E SO; Göring, Harald H H HH; Haack, Karin K; Laston, Sandra S; Wenger, Charlotte R CR; Tejero, M Elizabeth ME; Devereux, Richard B RB; Fabsitz, Richard R RR; MacCluer, Jean W JW; Umans, Jason G JG; Howard, Barbara V BV; Comuzzie, Anthony G AG
Publication Date: 2010-06

Variant appearance in text: rs248
PubMed Link: 20410100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study.

Circulation. Cardiovascular Genetics
Tang, Weihong W; Apostol, George G; Schreiner, Pamela J PJ; Jacobs, David R DR; Boerwinkle, Eric E; Fornage, Myriam M
Publication Date: 2010-04

Variant appearance in text: rs248
PubMed Link: 20150529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linkage disequilibrium grouping of single nucleotide polymorphisms (SNPs) reflecting haplotype phylogeny for efficient selection of tag SNPs.

Genetics
Takeuchi, Fumihiko F; Yanai, Kazuyuki K; Morii, Toshiyuki T; Ishinaga, Yuji Y; Taniguchi-Yanai, Keiko K; Nagano, Shinobu S; Kato, Norihiro N
Publication Date: 2005-05

Variant appearance in text: rs248
PubMed Link: 15716494
Variant Present in the following documents:
  • Main text
View BVdb publication page