Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27
Variant appearance in text: ABCA1: 2311G>C; Val771Leu; rs2066718
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
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: ABCA1: 2311G>C; Val771Leu
Logic Regression Analysis of Gene Polymorphisms and HDL Levels in a Nationally Representative Sample of Iranian Adolescents: The CASPIAN-III Study.
International Journal Of Endocrinology And Metabolism
Moghadasi, Mehri M; Kelishadi, Roya R; Marateb, Hamid Reza HR; Haghjooy Javanmard, Shaghayegh S; Mansourian, Marjan M; Heshmat, Ramin R; Esmaeil Motlagh, Mohammad M
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
3'UTR Polymorphism in ACSL1 Gene Correlates with Expression Levels and Poor Clinical Outcome in Colon Cancer Patients.
Plos One
Vargas, Teodoro T; Moreno-Rubio, Juan J; Herranz, Jesús J; Cejas, Paloma P; Molina, Susana S; Mendiola, Marta M; Burgos, Emilio E; Custodio, Ana B AB; De Miguel, María M; Martín-Hernández, Roberto R; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Nature Genetics
Iotchkova, Valentina V; Huang, Jie J; Morris, John A JA; Jain, Deepti D; Barbieri, Caterina C; Walter, Klaudia K; Min, Josine L JL; Chen, Lu L; Astle, William W; Cocca, Massimilian M; Deelen, Patrick P; Elding, Heather H; Farmaki, Aliki-Eleni AE; Franklin, Christopher S CS; Franberg, Mattias M; Gaunt, Tom R TR; Hofman, Albert A; Jiang, Tao T; Kleber, Marcus E ME; Lachance, Genevieve G; Luan, Jian'an J; Malerba, Giovanni G; Matchan, Angela A; Mead, Daniel D; Memari, Yasin Y; Ntalla, Ioanna I; Panoutsopoulou, Kalliope K; Pazoki, Raha R; Perry, John R B JRB; Rivadeneira, Fernando F; Sabater-Lleal, Maria M; Sennblad, Bengt B; Shin, So-Youn SY; Southam, Lorraine L; Traglia, Michela M; van Dijk, Freerk F; van Leeuwen, Elisabeth M EM; Zaza, Gianluigi G; Zhang, Weihua W; , ; Amin, Najaf N; Butterworth, Adam A; Chambers, John C JC; Dedoussis, George G; Dehghan, Abbas A; Franco, Oscar H OH; Franke, Lude L; Frontini, Mattia M; Gambaro, Giovanni G; Gasparini, Paolo P; Hamsten, Anders A; Issacs, Aaron A; Kooner, Jaspal S JS; Kooperberg, Charles C; Langenberg, Claudia C; Marz, Winfried W; Scott, Robert A RA; Swertz, Morris A MA; Toniolo, Daniela D; Uitterlinden, Andre G AG; van Duijn, Cornelia M CM; Watkins, Hugh H; Zeggini, Eleftheria E; Maurano, Mathew T MT; Timpson, Nicholas J NJ; Reiner, Alexander P AP; Auer, Paul L PL; Soranzo, Nicole N
Publication Date: 2016-11
Variant appearance in text: ABCA1: Val771Leu; rs2066718
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.
The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10
Variant appearance in text: ABCA1: V771L; rs2066718
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Plos Genetics
Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB
A survey of ABCA1 sequence variation confirms association with dementia.
Human Mutation
Reynolds, Chandra A CA; Hong, Mun-Gwan MG; Eriksson, Ulrika K UK; Blennow, Kaj K; Bennet, Anna M AM; Johansson, Boo B; Malmberg, Bo B; Berg, Stig S; Wiklund, Fredrik F; Gatz, Margaret M; Pedersen, Nancy L NL; Prince, Jonathan A JA