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
Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.
International Journal Of Molecular Sciences
Scapoli, Chiara C; Ziliotto, Nicole N; Lunghi, Barbara B; Menegatti, Erica E; Salvi, Fabrizio F; Zamboni, Paolo P; Baroni, Marcello M; Mascoli, Francesco F; Bernardi, Francesco F; Marchetti, Giovanna G
Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.
International Journal Of Molecular Sciences
Scapoli, Chiara C; Ziliotto, Nicole N; Lunghi, Barbara B; Menegatti, Erica E; Salvi, Fabrizio F; Zamboni, Paolo P; Baroni, Marcello M; Mascoli, Francesco F; Bernardi, Francesco F; Marchetti, Giovanna G
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng 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: GRIN2B: P122P; rs7301328
Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson's Disease.
The International Journal Of Neuropsychopharmacology
Redenšek, Sara S; Jenko Bizjan, Barbara B; Trošt, Maja M; Dolžan, Vita V
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: GRIN2B: P122P; rs7301328
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.
Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease.
Journal Of Neurology, Neurosurgery, And Psychiatry
Kraemmer, Julia J; Smith, Kara K; Weintraub, Daniel D; Guillemot, Vincent V; Nalls, Mike A MA; Cormier-Dequaire, Florence F; Moszer, Ivan I; Brice, Alexis A; Singleton, Andrew B AB; Corvol, Jean-Christophe JC
Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms.
Parkinsonism & Related Disorders
Hassan, Anhar A; Heckman, Michael G MG; Ahlskog, J E JE; Wszolek, Zbigniew K ZK; Serie, Daniel J DJ; Uitti, Ryan J RJ; van Gerpen, Jay A JA; Okun, Michael S MS; Rayaprolu, Sruti S; Ross, Owen A OA
Acute physical exercise improves shifting in adolescents at school: evidence for a dopaminergic contribution.
Frontiers In Behavioral Neuroscience
Berse, Timo T; Rolfes, Kathrin K; Barenberg, Jonathan J; Dutke, Stephan S; Kuhlenbäumer, Gregor G; Völker, Klaus K; Winter, Bernward B; Wittig, Michael M; Knecht, Stefan S
DRD and GRIN2B polymorphisms and their association with the development of impulse control behaviour among Malaysian Parkinson's disease patients.
Bmc Neurology
Zainal Abidin, Shahidee S; Tan, Eng Liang EL; Chan, Soon-Choy SC; Jaafar, Ameerah A; Lee, Alex Xuen AX; Abd Hamid, Mohd Hamdi Noor MH; Abdul Murad, Nor Azian NA; Pakarul Razy, Nur Fadlina NF; Azmin, Shahrul S; Ahmad Annuar, Azlina A; Lim, Shen Yang SY; Cheah, Pike-See PS; Ling, King-Hwa KH; Mohamed Ibrahim, Norlinah N
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: GRIN2B: P122P; rs7301328
Genetic polymorphisms affecting susceptibility to mercury neurotoxicity in children: summary findings from the Casa Pia Children's Amalgam clinical trial.
Neurotoxicology
Woods, James S JS; Heyer, Nicholas J NJ; Russo, Joan E JE; Martin, Michael D MD; Farin, Federico M FM
Molecular evidence of N-methyl-D-aspartate receptor hypofunction in schizophrenia.
Molecular Psychiatry
Weickert, C S CS; Fung, S J SJ; Catts, V S VS; Schofield, P R PR; Allen, K M KM; Moore, L T LT; Newell, K A KA; Pellen, D D; Huang, X-F XF; Catts, S V SV; Weickert, T W TW
Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder.
Plos One
Frank, René A W RA; McRae, Allan F AF; Pocklington, Andrew J AJ; van de Lagemaat, Louie N LN; Navarro, Pau P; Croning, Mike D R MD; Komiyama, Noboru H NH; Bradley, Sophie J SJ; Challiss, R A John RA; Armstrong, J Douglas JD; Finn, Robert D RD; Malloy, Mary P MP; MacLean, Alan W AW; Harris, Sarah E SE; Starr, John M JM; Bhaskar, Sanjeev S SS; Howard, Eleanor K EK; Hunt, Sarah E SE; Coffey, Alison J AJ; Ranganath, Venkatesh V; Deloukas, Panos P; Rogers, Jane J; Muir, Walter J WJ; Deary, Ian J IJ; Blackwood, Douglas H DH; Visscher, Peter M PM; Grant, Seth G N SG
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