Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: POLR2A: 1461T>C; Ser487=
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
Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.
Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: POLR2A: 1461T>C; S487S; rs2228129
XAF1 as a modifier of p53 function and cancer susceptibility.
Science Advances
Pinto, Emilia M EM; Figueiredo, Bonald C BC; Chen, Wenan W; Galvao, Henrique C R HCR; Formiga, Maria Nirvana MN; Fragoso, Maria Candida B V MCBV; Ashton-Prolla, Patricia P; Ribeiro, Enilze M S F EMSF; Felix, Gabriela G; Costa, Tatiana E B TEB; Savage, Sharon A SA; Yeager, Meredith M; Palmero, Edenir I EI; Volc, Sahlua S; Salvador, Hector H; Fuster-Soler, Jose Luis JL; Lavarino, Cinzia C; Chantada, Guillermo G; Vaur, Dominique D; Odone-Filho, Vicente V; Brugières, Laurence L; Else, Tobias T; Stoffel, Elena M EM; Maxwell, Kara N KN; Achatz, Maria Isabel MI; Kowalski, Luis L; de Andrade, Kelvin C KC; Pappo, Alberto A; Letouze, Eric E; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Almeida, Madson Q MQ; Brondani, Vania B VB; Bittar, Camila M CM; Soares, Emerson W S EWS; Mathias, Carolina C; Ramos, Cintia R N CRN; Machado, Moara M; Zhou, Weiyin W; Jones, Kristine K; Vogt, Aurelie A; Klincha, Payal P PP; Santiago, Karina M KM; Komechen, Heloisa H; Paraizo, Mariana M MM; Parise, Ivy Z S IZS; Hamilton, Kayla V KV; Wang, Jinling J; Rampersaud, Evadnie E; Clay, Michael R MR; Murphy, Andrew J AJ; Lalli, Enzo E; Nichols, Kim E KE; Ribeiro, Raul C RC; Rodriguez-Galindo, Carlos C; Korbonits, Marta M; Zhang, Jinghui J; Thomas, Mark G MG; Connelly, Jon P JP; Pruett-Miller, Shondra S; Diekmann, Yoan Y; Neale, Geoffrey G; Wu, Gang G; Zambetti, Gerard P GP
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20
Variant appearance in text: POLR2A: 1461T>C; rs2228129
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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: POLR2A: S487S; rs2228129
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
Publication Date: 2015-12-08
Variant appearance in text: POLR2A: S487S; rs2228129
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
Publication Date: 2014
Variant appearance in text: POLR2A: S487S; rs2228129
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014
Variant appearance in text: POLR2A: S487S; rs2228129