Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
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
Associations of Single Nucleotide Polymorphisms in IL-18 Gene with Plasmodium falciparum-Associated Malaria.
Journal Of Inflammation Research
AlRuwaisan, Alaa U AU; Al-Anazi, Mashael R MR; Shafeai, Mohammed I MI; Rudiny, Fuad H FH; Motaen, Ali M AM; Bin Dajem, Saad M SM; Alothaid, Hani H; Morsy, Kareem K; Alkahtani, Saad S; Al-Qahtani, Ahmed A AA
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 Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response.
International Journal Of Molecular Sciences
Mikhaylenko, Dmitry S DS; Nemtsova, Marina V MV; Bure, Irina V IV; Kuznetsova, Ekaterina B EB; Alekseeva, Ekaterina A EA; Tarasov, Vadim V VV; Lukashev, Alexander N AN; Beloukhova, Marina I MI; Deviatkin, Andrei A AA; Zamyatnin, Andrey A AA
A Common NLRC4 Gene Variant Associates With Inflammation and Pulmonary Function in Human Immunodeficiency Virus and Tuberculosis.
Clinical Infectious Diseases : An Official Publication Of The Infectious Diseases Society Of America
Ravimohan, Shruthi S; Maenetje, Pholo P; Auld, Sara C SC; Ncube, Itai I; Mlotshwa, Mandla M; Chase, William W; Tiemessen, Caroline T CT; Vangu, Mboyo-Di-Tamba MD; Wallis, Robert S RS; Churchyard, Gavin G; Weissman, Drew D; Kornfeld, Hardy H; Bisson, Gregory P GP
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
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
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.
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
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
Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
White, Kristin L KL; Vierkant, Robert A RA; Fogarty, Zachary C ZC; Charbonneau, Bridget B; Block, Matthew S MS; Pharoah, Paul D P PD; Chenevix-Trench, Georgia G; , ; Rossing, Mary Anne MA; Cramer, Daniel W DW; Pearce, Celeste Leigh CL; Schildkraut, Joellen M JM; Menon, Usha U; Kjaer, Susanne Kruger SK; Levine, Douglas A DA; Gronwald, Jacek J; Culver, Hoda Anton HA; Whittemore, Alice S AS; Karlan, Beth Y BY; Lambrechts, Diether D; Wentzensen, Nicolas N; Kupryjanczyk, Jolanta J; Chang-Claude, Jenny J; Bandera, Elisa V EV; Hogdall, Estrid E; Heitz, Florian F; Kaye, Stanley B SB; Fasching, Peter A PA; Campbell, Ian I; Goodman, Marc T MT; Pejovic, Tanja T; Bean, Yukie Y; Lurie, Galina G; Eccles, Diana D; Hein, Alexander A; Beckmann, Matthias W MW; Ekici, Arif B AB; Paul, James J; Brown, Robert R; Flanagan, James M JM; Harter, Philipp P; du Bois, Andreas A; Schwaab, Ira I; Hogdall, Claus K CK; Lundvall, Lene L; Olson, Sara H SH; Orlow, Irene I; Paddock, Lisa E LE; Rudolph, Anja A; Eilber, Ursula U; Dansonka-Mieszkowska, Agnieszka A; Rzepecka, Iwona K IK; Ziolkowska-Seta, Izabela I; Brinton, Louise L; Yang, Hannah H; Garcia-Closas, Montserrat M; Despierre, Evelyn E; Lambrechts, Sandrina S; Vergote, Ignace I; Walsh, Christine C; Lester, Jenny J; Sieh, Weiva W; McGuire, Valerie V; Rothstein, Joseph H JH; Ziogas, Argyrios A; Lubinski, Jan J; Cybulski, Cezary C; Menkiszak, Janusz J; Jensen, Allan A; Gayther, Simon A SA; Ramus, Susan J SJ; Gentry-Maharaj, Aleksandra A; Berchuck, Andrew A; Wu, Anna H AH; Pike, Malcolm C MC; Van Denberg, David D; Terry, Kathryn L KL; Vitonis, Allison F AF; Doherty, Jennifer A JA; Johnatty, Sharon E SE; Defazio, Anna A; Song, Honglin H; Tyrer, Jonathan J; Sellers, Thomas A TA; Phelan, Catherine M CM; Kalli, Kimberly R KR; Cunningham, Julie M JM; Fridley, Brooke L BL; Goode, Ellen L EL
Impact of cytokine and cytokine receptor gene polymorphisms on cellular immunity after smallpox vaccination.
Gene
Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; Kennedy, Richard B RB; Pankratz, V Shane VS; Vierkant, Robert A RA; Jacobson, Robert M RM; Poland, Gregory A GA
Publication Date: 2012-11-15
Variant appearance in text: IL18: Ser35Ser; rs549908
The frequency of an IL-18-associated haplotype in Africans.
European Journal Of Human Genetics : Ejhg
Thompson, Simon R SR; Humphries, Steve E SE; Thomas, Mark G MG; Ekong, Rosemary R; Tarekegn, Ayele A; Bekele, Endeshaw E; Creemer, Olivia O; Bradman, Neil N; Veeramah, Krishna R KR
Cytokine gene polymorphisms and the outcome of invasive candidiasis: a prospective cohort study.
Clinical Infectious Diseases : An Official Publication Of The Infectious Diseases Society Of America
Johnson, Melissa D MD; Plantinga, Theo S TS; van de Vosse, Esther E; Velez Edwards, Digna R DR; Smith, P Brian PB; Alexander, Barbara D BD; Yang, John C JC; Kremer, Dennis D; Laird, Gregory M GM; Oosting, Marije M; Joosten, Leo A B LA; van der Meer, Jos W M JW; van Dissel, Jaap T JT; Walsh, Thomas J TJ; Perfect, John R JR; Kullberg, Bart-Jan BJ; Scott, William K WK; Netea, Mihai G MG
Genetic variation within IL18 is associated with insulin levels, insulin resistance and postprandial measures.
Nutrition, Metabolism, And Cardiovascular Diseases : Nmcd
Smart, M C MC; Dedoussis, G G; Yiannakouris, N N; Grisoni, M L ML; Dror, G K GK; Yannakoulia, M M; Papoutsakis, C C; Louizou, E E; Mantzoros, C S CS; Melistas, L L; Kontogianni, M D MD; Cooper, J A JA; Humphries, S E SE; Talmud, P J PJ; ,
Inherited determinants of ovarian cancer survival.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Goode, Ellen L EL; Maurer, Matthew J MJ; Sellers, Thomas A TA; Phelan, Catherine M CM; Kalli, Kimberly R KR; Fridley, Brooke L BL; Vierkant, Robert A RA; Armasu, Sebastian M SM; White, Kristin L KL; Keeney, Gary L GL; Cliby, William A WA; Rider, David N DN; Kelemen, Linda E LE; Jones, Monica B MB; Peethambaram, Prema P PP; Lancaster, Johnathan M JM; Olson, Janet E JE; Schildkraut, Joellen M JM; Cunningham, Julie M JM; Hartmann, Lynn C LC
Lack of association between polymorphisms of the IL18R1 and IL18RAP genes and cardiovascular risk: the MORGAM Project.
Bmc Medical Genetics
Grisoni, Marie-Lise ML; Proust, Carole C; Alanne, Mervi M; Desuremain, Maylis M; Salomaa, Veikko V; Kuulasmaa, Kari K; Cambien, François F; Nicaud, Viviane V; Wiklund, Per-Gunnar PG; Virtamo, Jarmo J; Kee, Frank F; Tiret, Laurence L; Evans, Alun A; Tregouet, David-Alexandre DA
Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Palmieri, Rachel T RT; Wilson, Melanie A MA; Iversen, Edwin S ES; Clyde, Merlise A MA; Calingaert, Brian B; Moorman, Patricia G PG; Poole, Charles C; Anderson, A Rebecca AR; Anderson, Stephanie S; Anton-Culver, Hoda H; Beesley, Jonathan J; Hogdall, Estrid E; Brewster, Wendy W; Carney, Michael E ME; Chen, Xiaoqing X; Chenevix-Trench, Georgia G; Chang-Claude, Jenny J; Cunningham, Julie M JM; Dicioccio, Richard A RA; Doherty, Jennifer A JA; Easton, Douglas F DF; Edlund, Christopher K CK; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Goode, Ellen L EL; Goodman, Marc T MT; Kjaer, Susanne Kruger SK; Hogdall, Claus K CK; Hopkins, Michael P MP; Jenison, Eric L EL; Blaakaer, Jan J; Lurie, Galina G; McGuire, Valerie V; Menon, Usha U; Moysich, Kirsten B KB; Ness, Roberta B RB; Pearce, Celeste Leigh CL; Pharoah, Paul D P PD; Pike, Malcolm C MC; Ramus, Susan J SJ; Rossing, Mary Anne MA; Song, Honglin H; Terada, Keith Y KY; Vandenberg, David D; Vierkant, Robert A RA; Wang-Gohrke, Shan S; Webb, Penelope M PM; Whittemore, Alice S AS; Wu, Anna H AH; Ziogas, Argyrios A; Berchuck, Andrew A; Schildkraut, Joellen M JM; , ; , ; ,