JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.
Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
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
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
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 single nucleotide polymorphism in dopamine beta hydroxylase (rs6271(C>T)) is over-represented in inflammatory bowel disease patients and reduces circulating enzyme.
Plos One
Gonzalez-Lopez, Eugene E; Kawasawa-Imamura, Yuka Y; Zhang, Lijun L; Huang, Xuemei X; Koltun, Walter A WA; Coates, Matthew D MD; Vrana, Kent E KE
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.
From genes to treatments: a systematic review of the pharmacogenetics in smoking cessation.
Pharmacogenomics
Salloum, Naji C NC; Buchalter, Erica L F ELF; Chanani, Swati S; Espejo, Gemma G; Ismail, Mahjabeen S MS; Laine, Randy O RO; Nageeb, Maysaa M; Srivastava, A Benjamin AB; Trapp, Nicholas N; Trillo, Ludwig L; Vance, Erica E; Wenzinger, Michael M; Hartz, Sarah M SM; David, Sean P SP; Chen, Li-Shiun LS
Systematic genomic and translational efficiency studies of uveal melanoma.
Plos One
Johnson, Chelsea Place CP; Kim, Ivana K IK; Esmaeli, Bita B; Amin-Mansour, Ali A; Treacy, Daniel J DJ; Carter, Scott L SL; Hodis, Eran E; Wagle, Nikhil N; Seepo, Sara S; Yu, Xiaoxing X; Lane, Anne Marie AM; Gragoudas, Evangelos S ES; Vazquez, Francisca F; Nickerson, Elizabeth E; Cibulskis, Kristian K; McKenna, Aaron A; Gabriel, Stacey B SB; Getz, Gad G; Van Allen, Eliezer M EM; 't Hoen, Peter A C PAC; Garraway, Levi A LA; Woodman, Scott E SE
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
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
Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.
Circulation Research
Barrie, Elizabeth S ES; Weinshenker, David D; Verma, Anurag A; Pendergrass, Sarah A SA; Lange, Leslie A LA; Ritchie, Marylyn D MD; Wilson, James G JG; Kuivaniemi, Helena H; Tromp, Gerard G; Carey, David J DJ; Gerhard, Glenn S GS; Brilliant, Murray H MH; Hebbring, Scott J SJ; Cubells, Joseph F JF; Pinsonneault, Julia K JK; Norman, Greg J GJ; Sadee, Wolfgang W
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
A community-based study of cigarette smoking behavior in relation to variation in three genes involved in dopamine metabolism: Catechol-O-methyltransferase (COMT), dopamine beta-hydroxylase (DBH) and monoamine oxidase-A (MAO-A).
Preventive Medicine
Shiels, Meredith S MS; Huang, Han Yao HY; Hoffman, Sandra C SC; Shugart, Yin Yao YY; Bolton, Judy Hoffman JH; Platz, Elizabeth A EA; Helzlsouer, Kathy J KJ; Alberg, Anthony J AJ