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
Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons.
Molecular Psychiatry
Popova, Dina D; Gameiro-Ros, Isabel I; Youssef, Mark M MM; Zalamea, Petronio P; Morris, Ayeshia D AD; Prytkova, Iya I; Jadali, Azadeh A; Kwan, Kelvin Y KY; Kamarajan, Chella C; Salvatore, Jessica E JE; Xuei, Xiaoling X; Chorlian, David B DB; Porjesz, Bernice B; Kuperman, Samuel S; Dick, Danielle M DM; Goate, Alison A; Edenberg, Howard J HJ; Tischfield, Jay A JA; Pang, Zhiping P ZP; Slesinger, Paul A PA; Hart, Ronald P RP
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: KCNJ6: 1032C>T; D344D; rs702859
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: KCNJ6: D344D; rs702859
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.
A KCNJ6 gene polymorphism modulates theta oscillations during reward processing.
International Journal Of Psychophysiology : Official Journal Of The International Organization Of Psychophysiology
Kamarajan, Chella C; Pandey, Ashwini K AK; Chorlian, David B DB; Manz, Niklas N; Stimus, Arthur T AT; Edenberg, Howard J HJ; Wetherill, Leah L; Schuckit, Marc M; Wang, Jen-Chyong JC; Kuperman, Samuel S; Kramer, John J; Tischfield, Jay A JA; Porjesz, Bernice B
Genetic correlates of the development of theta event related oscillations in adolescents and young adults.
International Journal Of Psychophysiology : Official Journal Of The International Organization Of Psychophysiology
Chorlian, David B DB; Rangaswamy, Madhavi M; Manz, Niklas N; Meyers, Jacquelyn L JL; Kang, Sun J SJ; Kamarajan, Chella C; Pandey, Ashwini K AK; Wang, Jen-Chyong JC; Wetherill, Leah L; Edenberg, Howard H; Porjesz, Bernice B
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
Publication Date: 2015-12-08
Variant appearance in text: KCNJ6: D344D; rs702859
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: KCNJ6: D344D; rs702859
Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
Genes, Brain, And Behavior
Kang, S J SJ; Rangaswamy, M M; Manz, N N; Wang, J-C JC; Wetherill, L L; Hinrichs, T T; Almasy, L L; Brooks, A A; Chorlian, D B DB; Dick, D D; Hesselbrock, V V; Kramer, J J; Kuperman, S S; Nurnberger, J J; Rice, J J; Schuckit, M M; Tischfield, J J; Bierut, L J LJ; Edenberg, H J HJ; Goate, A A; Foroud, T T; Porjesz, B B