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 variation of rs12918566 affects GRIN2A expression and is associated with spontaneous movement response during sevoflurane anesthesia induction.
Molecular mechanisms of neurodegeneration in the entorhinal cortex that underlie its selective vulnerability during the pathogenesis of Alzheimer's disease.
Biology Open
Olajide, Olayemi Joseph OJ; Suvanto, Marcus E ME; Chapman, Clifton Andrew CA
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
Exploratory study of selected nucleotide variants in GRIN1, GRIN2A and GRIN2B encoding subunits of the NMDA receptor in a targeted group of schizophrenia patients with chronic cognitive impairment.
Pharmacological Reports : Pr
Krzystanek, Marek M; Asman, Marek M; Witecka, Joanna J; Pałasz, Artur A; Wiaderkiewicz, Ryszard R
Selected single-nucleotide variants in GRIN1, GRIN2A, and GRIN2B encoding subunits of the NMDA receptor are not biomarkers of schizophrenia resistant to clozapine: exploratory study.
Pharmacological Reports : Pr
Krzystanek, Marek M; Asman, Marek M; Witecka, Joanna J; Pałasz, Artur A; Wiaderkiewicz, Ryszard R
Publication Date: 2021-02
Variant appearance in text: GRIN2B: Thr888=; rs1806201
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: T888T; rs1806201
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: GRIN2B: 2664C>T; Thr888Thr; rs1806201
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.
The genetics of anxiety-related negative valence system traits.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Savage, Jeanne E JE; Sawyers, Chelsea C; Roberson-Nay, Roxann R; Hettema, John M JM
The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.
Journal Of Huntington'S Disease
Correia, Kevin K; Harold, Denise D; Kim, Kyung-Hee KH; Holmans, Peter P; Jones, Lesley L; Orth, Michael M; Myers, Richard H RH; Kwak, Seung S; Wheeler, Vanessa C VC; MacDonald, Marcy E ME; Gusella, James F JF; Lee, Jong-Min JM
Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene.
Plos One
Valcárcel-Ocete, Leire L; Alkorta-Aranburu, Gorka G; Iriondo, Mikel M; Fullaondo, Asier A; García-Barcina, María M; Fernández-García, José Manuel JM; Lezcano-García, Elena E; Losada-Domingo, José María JM; Ruiz-Ojeda, Javier J; Álvarez de Arcaya, Amaia A; Pérez-Ramos, José María JM; Roos, Raymund A C RA; Nielsen, Jørgen E JE; Saft, Carsten C; , ; Zubiaga, Ana M AM; Aguirre, Ana A
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: T888T; rs1806201
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
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Neurogenetics
Ramos, Eliana Marisa EM; Latourelle, Jeanne C JC; Gillis, Tammy T; Mysore, Jayalakshmi S JS; Squitieri, Ferdinando F; Di Pardo, Alba A; Di Donato, Stefano S; Gellera, Cinzia C; Hayden, Michael R MR; Morrison, Patrick J PJ; Nance, Martha M; Ross, Christopher A CA; Margolis, Russell L RL; Gomez-Tortosa, Estrella E; Ayuso, Carmen C; Suchowersky, Oksana O; Trent, Ronald J RJ; McCusker, Elizabeth E; Novelletto, Andrea A; Frontali, Marina M; Jones, Randi R; Ashizawa, Tetsuo T; Frank, Samuel S; Saint-Hilaire, Marie-Helene MH; Hersch, Steven M SM; Rosas, Herminia D HD; Lucente, Diane D; Harrison, Madaline B MB; Zanko, Andrea A; Abramson, Ruth K RK; Marder, Karen K; Gusella, James F JF; Lee, Jong-Min JM; Alonso, Isabel I; Sequeiros, Jorge J; Myers, Richard H RH; Macdonald, Marcy E ME
The influence of genetic and environmental factors among MDMA users in cognitive performance.
Plos One
Cuyàs, Elisabet E; Verdejo-García, Antonio A; Fagundo, Ana Beatriz AB; Khymenets, Olha O; Rodríguez, Joan J; Cuenca, Aida A; de Sola Llopis, Susana S; Langohr, Klaus K; Peña-Casanova, Jordi J; Torrens, Marta M; Martín-Santos, Rocío R; Farré, Magí M; de la Torre, Rafael R