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
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
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
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
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
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
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
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
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
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
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
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
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