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: SLC6A3: 1215A>G; S405S; rs6347
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
A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia.
Bmc Medical Genetics
Osmanova, Diana Z DZ; Freidin, Maxim B MB; Fedorenko, Olga Yu OY; Pozhidaev, Ivan V IV; Boiko, Anastasiia S AS; Vyalova, Natalia M NM; Tiguntsev, Vladimir V VV; Kornetova, Elena G EG; Loonen, Anton J M AJM; Semke, Arkadiy V AV; Wilffert, Bob B; Bokhan, Nikolay A NA; Ivanova, Svetlana A SA
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
Publication Date: 2019-02-27
Variant appearance in text: SLC6A3: 1215A>G; Ser405Ser; rs6347
Dopaminergic Pathway Genes Influence Adverse Events Related to Dopaminergic Treatment in Parkinson's Disease.
Frontiers In Pharmacology
Redenšek, Sara S; Flisar, Dušan D; Kojović, Maja M; Gregorič Kramberger, Milica M; Georgiev, Dejan D; Pirtošek, Zvezdan Z; Trošt, Maja M; Dolžan, Vita V
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.
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.
European Archives Of Psychiatry And Clinical Neuroscience
Abdulkadir, Mohamed M; Londono, Douglas D; Gordon, Derek D; Fernandez, Thomas V TV; Brown, Lawrence W LW; Cheon, Keun-Ah KA; Coffey, Barbara J BJ; Elzerman, Lonneke L; Fremer, Carolin C; Fründt, Odette O; Garcia-Delgar, Blanca B; Gilbert, Donald L DL; Grice, Dorothy E DE; Hedderly, Tammy T; Heyman, Isobel I; Hong, Hyun Ju HJ; Huyser, Chaim C; Ibanez-Gomez, Laura L; Jakubovski, Ewgeni E; Kim, Young Key YK; Kim, Young Shin YS; Koh, Yun-Joo YJ; Kook, Sodahm S; Kuperman, Samuel S; Leventhal, Bennett B; Ludolph, Andrea G AG; Madruga-Garrido, Marcos M; Maras, Athanasios A; Mir, Pablo P; Morer, Astrid A; Müller-Vahl, Kirsten K; Münchau, Alexander A; Murphy, Tara L TL; Plessen, Kerstin J KJ; Roessner, Veit V; Shin, Eun-Young EY; Song, Dong-Ho DH; Song, Jungeun J; Tübing, Jennifer J; van den Ban, Els E; Visscher, Frank F; Wanderer, Sina S; Woods, Martin M; Zinner, Samuel H SH; King, Robert A RA; Tischfield, Jay A JA; Heiman, Gary A GA; Hoekstra, Pieter J PJ; Dietrich, Andrea A
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
Recent publications from the Alzheimer's Disease Neuroimaging Initiative: Reviewing progress toward improved AD clinical trials.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Weiner, Michael W MW; Veitch, Dallas P DP; Aisen, Paul S PS; Beckett, Laurel A LA; Cairns, Nigel J NJ; Green, Robert C RC; Harvey, Danielle D; Jack, Clifford R CR; Jagust, William W; Morris, John C JC; Petersen, Ronald C RC; Saykin, Andrew J AJ; Shaw, Leslie M LM; Toga, Arthur W AW; Trojanowski, John Q JQ; ,
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
Genetic Polymorphisms in the Dopamine Receptor 2 Predict Acute Pain Severity After Motor Vehicle Collision.
The Clinical Journal Of Pain
Qadri, Yawar J YJ; Bortsov, Andrey V AV; Orrey, Danielle C DC; Swor, Robert A RA; Peak, David A DA; Jones, Jeffrey S JS; Rathlev, Niels K NK; Lee, David C DC; Domeier, Robert M RM; Hendry, Phyllis L PL; Mclean, Samuel A SA
Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
The Journal Of Clinical Investigation
Hansen, Freja H FH; Skjørringe, Tina T; Yasmeen, Saiqa S; Arends, Natascha V NV; Sahai, Michelle A MA; Erreger, Kevin K; Andreassen, Thorvald F TF; Holy, Marion M; Hamilton, Peter J PJ; Neergheen, Viruna V; Karlsborg, Merete M; Newman, Amy H AH; Pope, Simon S; Heales, Simon J R SJ; Friberg, Lars L; Law, Ian I; Pinborg, Lars H LH; Sitte, Harald H HH; Loland, Claus C; Shi, Lei L; Weinstein, Harel H; Galli, Aurelio A; Hjermind, Lena E LE; Møller, Lisbeth B LB; Gether, Ulrik U
Association of dopamine transporter gene variants with childhood ADHD features in bipolar disorder.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Greenwood, Tiffany A TA; Joo, Eun-Jeong EJ; Shekhtman, Tatyana T; Sadovnick, A Dessa AD; Remick, Ronald A RA; Keck, Paul E PE; McElroy, Susan L SL; Kelsoe, John R JR
Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia.
The American Journal Of Psychiatry
Greenwood, Tiffany A TA; Lazzeroni, Laura C LC; Murray, Sarah S SS; Cadenhead, Kristin S KS; Calkins, Monica E ME; Dobie, Dorcas J DJ; Green, Michael F MF; Gur, Raquel E RE; Gur, Ruben C RC; Hardiman, Gary G; Kelsoe, John R JR; Leonard, Sherry S; Light, Gregory A GA; Nuechterlein, Keith H KH; Olincy, Ann A; Radant, Allen D AD; Schork, Nicholas J NJ; Seidman, Larry J LJ; Siever, Larry J LJ; Silverman, Jeremy M JM; Stone, William S WS; Swerdlow, Neal R NR; Tsuang, Debby W DW; Tsuang, Ming T MT; Turetsky, Bruce I BI; Freedman, Robert R; Braff, David L DL
Limited associations of dopamine system genes with alcohol dependence and related traits in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD).
Alcoholism, Clinical And Experimental Research
Hack, Laura M LM; Kalsi, Gursharan G; Aliev, Fazil F; Kuo, Po-Hsiu PH; Prescott, Carol A CA; Patterson, Diana G DG; Walsh, Dermot D; Dick, Danielle M DM; Riley, Brien P BP; Kendler, Kenneth S KS
SLC6A3 and body mass index in the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial.
Bmc Medical Genetics
Azzato, Elizabeth M EM; Morton, Lindsay M LM; Bergen, Andrew W AW; Wang, Sophia S SS; Chatterjee, Nilanjan N; Kvale, Paul P; Yeager, Meredith M; Hayes, Richard B RB; Chanock, Stephen J SJ; Caporaso, Neil E NE
SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Kollins, S H SH; Anastopoulos, A D AD; Lachiewicz, A M AM; FitzGerald, D D; Morrissey-Kane, E E; Garrett, M E ME; Keatts, S L SL; Ashley-Koch, A E AE
Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
Pharmacogenetics And Genomics
Johnson, Andrew D AD; Zhang, Ying Y; Papp, Audrey C AC; Pinsonneault, Julia K JK; Lim, Jeong-Eun JE; Saffen, David D; Dai, Zunyan Z; Wang, Danxin D; Sadée, Wolfgang W
A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Guindalini, Camila C; Howard, Mark M; Haddley, Kate K; Laranjeira, Ronaldo R; Collier, David D; Ammar, Nik N; Craig, Ian I; O'Gara, Colin C; Bubb, Vivian J VJ; Greenwood, Tiffany T; Kelsoe, John J; Asherson, Phil P; Murray, Robin M RM; Castelo, Adauto A; Quinn, John P JP; Vallada, Homero H; Breen, Gerome G