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
Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.
Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
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
Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.
International Journal Of Molecular Medicine
Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
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
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
Study of the association of seventeen single nucleotide polymorphisms and their haplotypes in the TNF-α, IL-2, IL-4 and IL-10 genes with the antibody response to inactivated Japanese encephalitis vaccine.
Human Vaccines & Immunotherapeutics
Yao, Yufeng Y; Xu, Xiuwen X; Li, Yaheng Y; Wang, Xiaona X; Yang, Huijuan H; Chen, Jun J; Liu, Shuyuan S; Deng, Yan Y; Zhao, Zhimei Z; Yin, Qiongzhou Q; Sun, Mingbo M; Shi, Li L
Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis.
Rheumatology International
Condreay, Lynn D LD; Parham, Laura R LR; Qu, Xiaoyan A XA; Steinfeld, Jonathan J; Wechsler, Michael E ME; Raby, Benjamin A BA; Yancey, Steven W SW; Ghosh, Soumitra S
Influence of inflammasome NLRP3, and IL1B and IL2 gene polymorphisms in periodontitis susceptibility.
Plos One
de Alencar, Josiane Bazzo JB; Zacarias, Joana Maira Valentini JMV; Tsuneto, Patrícia Yumeko PY; Souza, Victor Hugo de VH; Silva, Cléverson de Oliveira E COE; Visentainer, Jeane Eliete Laguila JEL; Sell, Ana Maria AM
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
Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.
Pediatric Diabetes
Winkler, Christiane C; Haupt, Florian F; Heigermoser, Martin M; Zapardiel-Gonzalo, Jose J; Ohli, Jasmin J; Faure, Theresa T; Kalideri, Evdokia E; Hommel, Angela A; Delivani, Petrina P; Berner, Reinhard R; Kordonouri, Olga O; Roloff, Frank F; von dem Berge, Thekla T; Lange, Karin K; Oltarzewski, Mariusz M; Glab, Ryszard R; Szypowska, Agnieszka A; Snape, Matthew D MD; Vatish, Manu M; Todd, John A JA; Larsson, Helena E HE; Ramelius, Anita A; Kördel, Jeanette Å JÅ; Casteels, Kristina K; Paulus, Jasmin J; Ziegler, Anette G AG; Bonifacio, Ezio E; ,
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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
Genetic Contribution to the Divergence in Type 1 Diabetes Risk Between Children From the General Population and Children From Affected Families.
Diabetes
Hippich, Markus M; Beyerlein, Andreas A; Hagopian, William A WA; Krischer, Jeffrey P JP; Vehik, Kendra K; Knoop, Jan J; Winker, Christiane C; Toppari, Jorma J; Lernmark, Åke Å; Rewers, Marian J MJ; Steck, Andrea K AK; She, Jin-Xiong JX; Akolkar, Beena B; Robertson, Catherine C CC; Onengut-Gumuscu, Suna S; Rich, Stephen S SS; Bonifacio, Ezio E; Ziegler, Anette-G AG; , ; ,
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.
Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children.
Plos Medicine
Bonifacio, Ezio E; Beyerlein, Andreas A; Hippich, Markus M; Winkler, Christiane C; Vehik, Kendra K; Weedon, Michael N MN; Laimighofer, Michael M; Hattersley, Andrew T AT; Krumsiek, Jan J; Frohnert, Brigitte I BI; Steck, Andrea K AK; Hagopian, William A WA; Krischer, Jeffrey P JP; Lernmark, Åke Å; Rewers, Marian J MJ; She, Jin-Xiong JX; Toppari, Jorma J; Akolkar, Beena B; Oram, Richard A RA; Rich, Stephen S SS; Ziegler, Anette-G AG; ,
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
Association of the PPP3CA c.249G>A variant with clinical outcomes of tacrolimus-based therapy in kidney transplant recipients.
Pharmacogenomics And Personalized Medicine
Salgado, Patricia C PC; Genvigir, Fabiana Dv FD; Felipe, Claudia R CR; Tedesco-Silva, Helio H; Medina-Pestana, Jose O JO; Doi, Sonia Q SQ; Hirata, Mario H MH; Hirata, Rosario Dc RD
Influence of cytokine and cytokine receptor gene polymorphisms on the degree of liver damage in patients with chronic hepatitis C.
Meta Gene
Moreira, Sara Tatiana ST; Silva, Giovanni Faria GF; de Moraes, Camila Fernanda Verdichio CF; Grotto, Rejane Maria Tomasini RM; de Moura Campos Pardini, Maria Inês MI; Bicalho, Maria da Graça Mda G; Moliterno, Ricardo Alberto RA
Interleukin polymorphisms associated with overall survival, disease-free survival, and recurrence in non-small cell lung cancer patients.
Molecular Carcinogenesis
Woods, Nicholas T NT; Monteiro, Alvaro N AN; Thompson, Zachary J ZJ; Amankwah, Ernest K EK; Naas, Nina N; Haura, Eric B EB; Beg, Amer A AA; Schabath, Matthew B MB
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