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: ABCG8: 1201A>T; rs144200355
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Frontiers In Pediatrics
Lassandro, Giuseppe G; Palladino, Valentina V; Faleschini, Michela M; Barone, Angelica A; Boscarol, Gianluca G; Cesaro, Simone S; Chiocca, Elena E; Farruggia, Piero P; Giona, Fiorina F; Gorio, Chiara C; Maggio, Angela A; Marinoni, Maddalena M; Marzollo, Antonio A; Palumbo, Giuseppe G; Russo, Giovanna G; Saracco, Paola P; Spinelli, Marco M; Verzegnassi, Federico F; Morga, Francesca F; Savoia, Anna A; Giordano, Paola P
Publication Date: 2022
Variant appearance in text: ABCG8: 1201A>T; Thr401Ser; rs144200355
Oncosuppressive miRNAs loaded in lipid nanoparticles potentiate targeted therapies in BRAF-mutant melanoma by inhibiting core escape pathways of resistance.
Oncogene
Fattore, Luigi L; Cafaro, Giordana G; Di Martile, Marta M; Campani, Virginia V; Sacconi, Andrea A; Liguoro, Domenico D; Marra, Emanuele E; Bruschini, Sara S; Stoppoloni, Daniela D; Cirombella, Roberto R; De Nicola, Francesca F; Pallocca, Matteo M; Ruggiero, Ciro F CF; Castaldo, Vittorio V; Catizone, Angiolina A; Del Bufalo, Donatella D; Viglietto, Giuseppe G; Vecchione, Andrea A; Blandino, Giovanni G; Aurisicchio, Luigi L; Fanciulli, Maurizio M; Ascierto, Paolo A PA; De Rosa, Giuseppe G; Mancini, Rita R; Ciliberto, Gennaro G
Publication Date: 2022-11-23
Variant appearance in text: ABCG8: 1201A>T; Thr401Ser
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Publication Date: 2022-11
Variant appearance in text: ABCG8: T401S; rs144200355
Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.
European Heart Journal
Helgadottir, Anna A; Thorleifsson, Gudmar G; Alexandersson, Kristjan F KF; Tragante, Vinicius V; Thorsteinsdottir, Margret M; Eiriksson, Finnur F FF; Gretarsdottir, Solveig S; Björnsson, Eythór E; Magnusson, Olafur O; Sveinbjornsson, Gardar G; Jonsdottir, Ingileif I; Steinthorsdottir, Valgerdur V; Ferkingstad, Egil E; Jensson, Brynjar Ö BÖ; Stefansson, Hreinn H; Olafsson, Isleifur I; Christensen, Alex H AH; Torp-Pedersen, Christian C; Køber, Lars L; Pedersen, Ole B OB; Erikstrup, Christian C; Sørensen, Erik E; Brunak, Søren S; Banasik, Karina K; Hansen, Thomas F TF; Nyegaard, Mette M; Eyjolfssson, Gudmundur I GI; Sigurdardottir, Olof O; Thorarinsson, Bjorn L BL; Matthiasson, Stefan E SE; Steingrimsdottir, Thora T; Bjornsson, Einar S ES; Danielsen, Ragnar R; Asselbergs, Folkert W FW; Arnar, David O DO; Ullum, Henrik H; Bundgaard, Henning H; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Thorgeirsson, Gudmundur G; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2020-07-21
Variant appearance in text: ABCG8: Thr401Ser; rs144200355
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: ABCG8: 1201A>T; Thr401Ser
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: ABCG8: T401S; rs144200355
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: ABCG8: 1201A>T; Thr401Ser
Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.
Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: ABCG8: T401S; rs144200355