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
Associations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study.
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
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
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Association between SLC19A1 Gene Polymorphism and High Dose Methotrexate Toxicity in Childhood Acute Lymphoblastic Leukaemia and Non Hodgkin Malignant Lymphoma: Introducing a Haplotype based Approach.
Radiology And Oncology
Kotnik, Barbara Faganel BF; Jazbec, Janez J; Grabar, Petra Bohanec PB; Rodriguez-Antona, Cristina C; Dolzan, Vita V
Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia.
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
Association between folate metabolism-related polymorphisms and colorectal cancer risk.
Molecular And Clinical Oncology
Kim, Jong Woo JW; Jeon, Young Joo YJ; Jang, Moon Ju MJ; Kim, Jung O JO; Chong, So Young SY; Ko, Kwang Hyun KH; Hwang, Seong Gyu SG; Oh, Doyeun D; Oh, Jisu J; Kim, Nam Keun NK
Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain infarction.
Plos One
Cho, Yunkyung Y; Kim, Jung O JO; Lee, Jeong Han JH; Park, Hye Mi HM; Jeon, Young Joo YJ; Oh, Seung Hun SH; Bae, Jinkun J; Park, Young Seok YS; Kim, Ok Joon OJ; Kim, Nam Keun NK
Genome-wide study of methotrexate clearance replicates SLCO1B1.
Blood
Ramsey, Laura B LB; Panetta, John C JC; Smith, Colton C; Yang, Wenjian W; Fan, Yiping Y; Winick, Naomi J NJ; Martin, Paul L PL; Cheng, Cheng C; Devidas, Meenakshi M; Pui, Ching-Hon CH; Evans, William E WE; Hunger, Stephen P SP; Loh, Mignon M; Relling, Mary V MV
Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.
Bmc Medical Genetics
Wernimont, Susan M SM; Clark, Andrew G AG; Stover, Patrick J PJ; Wells, Martin T MT; Litonjua, Augusto A AA; Weiss, Scott T ST; Gaziano, J Michael JM; Tucker, Katherine L KL; Baccarelli, Andrea A; Schwartz, Joel J; Bollati, Valentina V; Cassano, Patricia A PA