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
Functional Analysis of Promoter Variants in Genes Involved in Sex Steroid Action, DNA Repair and Cell Cycle Control.
Genes
Hamdi, Yosr Y; Leclerc, Martin M; Dumont, Martine M; Dubois, Stéphane S; Tranchant, Martine M; Reimnitz, Guy G; Soucy, Penny P; Cassart, Pauline P; Ouimet, Manon M; Sinnett, Daniel D; Chaieb, M'Hamed Lajmi Lakhal MLL; Simard, Jacques J
The association between early-onset cardiac events caused by neoadjuvant or adjuvant chemotherapy in triple-negative breast cancer patients and some novel autophagy-related polymorphisms in their genomic DNA: a real-world study.
Cancer Communications (London, England)
Liu, Binliang B; An, Tao T; Li, Meiying M; Yi, Zongbi Z; Li, Chunxiao C; Sun, Xiaoying X; Guan, Xiuwen X; Li, Lixi L; Wang, Yanfeng Y; Zhang, Yuhui Y; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer.
Breast Cancer Research : Bcr
Knappskog, Stian S; Chrisanthar, Ranjan R; Løkkevik, Erik E; Anker, Gun G; Østenstad, Bjørn B; Lundgren, Steinar S; Risberg, Terje T; Mjaaland, Ingvil I; Leirvaag, Beryl B; Miletic, Hrvoje H; Lønning, Per E PE
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.
Nature Genetics
, ; , ; Zhou, Kaixin K; Bellenguez, Celine C; Spencer, Chris C A CC; Bennett, Amanda J AJ; Coleman, Ruth L RL; Tavendale, Roger R; Hawley, Simon A SA; Donnelly, Louise A LA; Schofield, Chris C; Groves, Christopher J CJ; Burch, Lindsay L; Carr, Fiona F; Strange, Amy A; Freeman, Colin C; Blackwell, Jenefer M JM; Bramon, Elvira E; Brown, Matthew A MA; Casas, Juan P JP; Corvin, Aiden A; Craddock, Nicholas N; Deloukas, Panos P; Dronov, Serge S; Duncanson, Audrey A; Edkins, Sarah S; Gray, Emma E; Hunt, Sarah S; Jankowski, Janusz J; Langford, Cordelia C; Markus, Hugh S HS; Mathew, Christopher G CG; Plomin, Robert R; Rautanen, Anna A; Sawcer, Stephen J SJ; Samani, Nilesh J NJ; Trembath, Richard R; Viswanathan, Ananth C AC; Wood, Nicholas W NW; , ; Harries, Lorna W LW; Hattersley, Andrew T AT; Doney, Alex S F AS; Colhoun, Helen H; Morris, Andrew D AD; Sutherland, Calum C; Hardie, D Grahame DG; Peltonen, Leena L; McCarthy, Mark I MI; Holman, Rury R RR; Palmer, Colin N A CN; Donnelly, Peter P; Pearson, Ewan R ER