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
Publication Date: 2022-06-29
Variant appearance in text: OR12D2: L56P; rs4987411
Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder.
Pharmaceuticals (Basel, Switzerland)
Almandil, Noor B NB; AlSulaiman, Abdulla A; Aldakeel, Sumayh A SA; Alkuroud, Deem N DN; Aljofi, Halah Egal HE; Alzahrani, Safah S; Al-Mana, Aishah A; Alfuraih, Asma A AA; Alabdali, Majed M; Alkhamis, Fahd A FA; AbdulAzeez, Sayed S; Borgio, J Francis JF
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: OR12D2: 167T>C; L56P; rs4987411
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: OR12D2: 167T>C; L56P; rs4987411
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: OR12D2: L56P; rs4987411
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: OR12D2: L56P; rs4987411
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: OR12D2: L56P; rs4987411
Sequence variations at the human leukocyte antigen-linked olfactory receptor cluster do not influence female preferences for male odors.
Human Immunology
Thompson, Emma E EE; Haller, Gabe G; Pinto, Jayant M JM; Sun, Ying Y; Zelano, Bethanne B; Jacob, Suma S; McClintock, Martha K MK; Nicolae, Dan L DL; Ober, Carole C
Publication Date: 2010-01
Variant appearance in text: OR12D2: L56P; rs4987411
Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21.
American Journal Of Human Genetics
Nicolae, Dan D; Cox, Nancy J NJ; Lester, Lucille A LA; Schneider, Daniel D; Tan, Zheng Z; Billstrand, Christine C; Kuldanek, Susan S; Donfack, Joseph J; Kogut, Paul P; Patel, Nina M NM; Goodenbour, Jeffrey J; Howard, Timothy T; Wolf, Raoul R; Koppelman, Gerard H GH; White, Steven R SR; Parry, Rodney R; Postma, Dirkje S DS; Meyers, Deborah D; Bleecker, Eugene R ER; Hunt, Joan S JS; Solway, Julian J; Ober, Carole C