GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Nature
Pairo-Castineira, Erola E; Rawlik, Konrad K; Bretherick, Andrew D AD; Qi, Ting T; Wu, Yang Y; Nassiri, Isar I; McConkey, Glenn A GA; Zechner, Marie M; Klaric, Lucija L; Griffiths, Fiona F; Oosthuyzen, Wilna W; Kousathanas, Athanasios A; Richmond, Anne A; Millar, Jonathan J; Russell, Clark D CD; Malinauskas, Tomas T; Thwaites, Ryan R; Morrice, Kirstie K; Keating, Sean S; Maslove, David D; Nichol, Alistair A; Semple, Malcolm G MG; Knight, Julian J; Shankar-Hari, Manu M; Summers, Charlotte C; Hinds, Charles C; Horby, Peter P; Ling, Lowell L; McAuley, Danny D; Montgomery, Hugh H; Openshaw, Peter J M PJM; Begg, Colin C; Walsh, Timothy T; Tenesa, Albert A; Flores, Carlos C; Riancho, José A JA; Rojas-Martinez, Augusto A; Lapunzina, Pablo P; , ; , ; , ; , ; Yang, Jian J; Ponting, Chris P CP; Wilson, James F JF; Vitart, Veronique V; Abedalthagafi, Malak M; Luchessi, Andre D AD; Parra, Esteban J EJ; Cruz, Raquel R; Carracedo, Angel A; Fawkes, Angie A; Murphy, Lee L; Rowan, Kathy K; Pereira, Alexandre C AC; Law, Andy A; Fairfax, Benjamin B; Hendry, Sara Clohisey SC; Baillie, J Kenneth JK
Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
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
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.
Nature Genetics
Banday, A Rouf AR; Stanifer, Megan L ML; Florez-Vargas, Oscar O; Onabajo, Olusegun O OO; Papenberg, Brenen W BW; Zahoor, Muhammad A MA; Mirabello, Lisa L; Ring, Timothy J TJ; Lee, Chia-Han CH; Albert, Paul S PS; Andreakos, Evangelos E; Arons, Evgeny E; Barsh, Greg G; Biesecker, Leslie G LG; Boyle, David L DL; Brahier, Mark S MS; Burnett-Hartman, Andrea A; Carrington, Mary M; Chang, Euijin E; Choe, Pyoeng Gyun PG; Chisholm, Rex L RL; Colli, Leandro M LM; Dalgard, Clifton L CL; Dude, Carolynn M CM; Edberg, Jeff J; Erdmann, Nathan N; Feigelson, Heather S HS; Fonseca, Benedito A BA; Firestein, Gary S GS; Gehring, Adam J AJ; Guo, Cuncai C; Ho, Michelle M; Holland, Steven S; Hutchinson, Amy A AA; Im, Hogune H; Irby, Les'Shon L; Ison, Michael G MG; Joseph, Naima T NT; Kim, Hong Bin HB; Kreitman, Robert J RJ; Korf, Bruce R BR; Lipkin, Steven M SM; Mahgoub, Siham M SM; Mohammed, Iman I; Paschoalini, Guilherme L GL; Pacheco, Jennifer A JA; Peluso, Michael J MJ; Rader, Daniel J DJ; Redden, David T DT; Ritchie, Marylyn D MD; Rosenblum, Brooke B; Ross, M Elizabeth ME; Anna, Hanaisa P Sant HPS; Savage, Sharon A SA; Sharma, Sudha S; Siouti, Eleni E; Smith, Alicia K AK; Triantafyllia, Vasiliki V; Vargas, Joselin M JM; Vargas, Jose D JD; Verma, Anurag A; Vij, Vibha V; Wesemann, Duane R DR; Yeager, Meredith M; Yu, Xu X; Zhang, Yu Y; Boulant, Steeve S; Chanock, Stephen J SJ; Feld, Jordan J JJ; Prokunina-Olsson, Ludmila L
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Identification of Aggravation-Predicting Gene Polymorphisms in Coronavirus Disease 2019 Patients Using a Candidate Gene Approach Associated With Multiple Phase Pathogenesis: A Study in a Japanese City of 1 Million People.
Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19.
Medrxiv : The Preprint Server For Health Sciences
Banday, A Rouf AR; Stanifer, Megan L ML; Florez-Vargas, Oscar O; Onabajo, Olusegun O OO; Zahoor, Muhammad A MA; Papenberg, Brenen W BW; Ring, Timothy J TJ; Lee, Chia-Han CH; Andreakos, Evangelos E; Arons, Evgeny E; Barsh, Greg G; Biesecker, Leslie G LG; Boyle, David L DL; Burnett-Hartman, Andrea A; Carrington, Mary M; Chang, Euijin E; Choe, Pyoeng Gyun PG; Chrisholm, Rex L RL; Dalgard, Clifton C; Edberg, Jeff J; Erdmann, Nathan N; Feigelson, Heather S HS; Firestein, Gary S GS; Gehring, Adam J AJ; Ho, Michelle M; Holland, Steven S; Hutchinson, Amy A AA; Im, Hogune H; Ison, Michael G MG; Kim, Hong Bin HB; Kreitman, Robert J RJ; Korf, Bruce R BR; Mirabello, Lisa L; Pacheco, Jennifer A JA; Peluso, Michael J MJ; Rader, Daniel J DJ; Redden, David T DT; Ritchie, Marylyn D MD; Rosenbloom, Brooke B; Sant Anna, Hanaisa P HP; Savage, Sharon S; Siouti, Eleni E; Triantafyllia, Vasiliki V; Vargas, Joselin M JM; Verma, Anurag A; Vij, Vibha V; Wesemann, Duane R DR; Yeager, Meredith M; Yu, Xu X; Zhang, Yu Y; Boulant, Steeve S; Chanock, Stephen J SJ; Feld, Jordan J JJ; Prokunina-Olsson, Ludmila L
Genetic polymorphisms as multi-biomarkers in severe acute respiratory syndrome (SARS) by coronavirus infection: A systematic review of candidate gene association studies.
Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Dos Santos, Ana Caroline Melo ACM; Dos Santos, Bárbara Rayssa Correia BRC; Dos Santos, Bruna Brandão BB; de Moura, Edilson Leite EL; Ferreira, Jean Moisés JM; Dos Santos, Luana Karen Correia LKC; Oliveira, Susana Paiva SP; Dias, Renise Bastos Farias RBF; Pereira E Silva, Aline Cristine AC; de Farias, Karol Fireman KF; de Souza Figueiredo, Elaine Virgínia Martins EVM
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
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
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis.
Human Genomics
Di Maria, Emilio E; Latini, Andrea A; Borgiani, Paola P; Novelli, Giuseppe G
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
Polymorphism of 2'-5'-oligoadenylate synthetase (OAS) genes, associated with predisposition to severe forms of tick-borne encephalitis, in human populations of North Eurasia.
Molecular Biology
Barkhash, A V AV; Babenko, V N VN; Kobzev, V F VF; Romaschenko, A G AG; Voevoda, M I MI
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
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
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
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
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.