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
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: CHRNA3: 291A>G; K97K; rs3743075
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: CHRNA3: K97K; rs3743075
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.
Natural killer cells and single nucleotide polymorphisms of specific ion channels and receptor genes in myalgic encephalomyelitis/chronic fatigue syndrome.
The Application Of Clinical Genetics
Marshall-Gradisnik, Sonya S; Huth, Teilah T; Chacko, Anu A; Johnston, Samantha S; Smith, Pete P; Staines, Donald D
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: CHRNA3: K97K; rs3743075
A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence.
Human Molecular Genetics
Hancock, Dana B DB; Wang, Jen-Chyong JC; Gaddis, Nathan C NC; Levy, Joshua L JL; Saccone, Nancy L NL; Stitzel, Jerry A JA; Goate, Alison A; Bierut, Laura J LJ; Johnson, Eric O EO
Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers.
Plos Genetics
Taylor, Amy E AE; Morris, Richard W RW; Fluharty, Meg E ME; Bjorngaard, Johan H JH; Åsvold, Bjørn Olav BO; Gabrielsen, Maiken E ME; Campbell, Archie A; Marioni, Riccardo R; Kumari, Meena M; Hällfors, Jenni J; Männistö, Satu S; Marques-Vidal, Pedro P; Kaakinen, Marika M; Cavadino, Alana A; Postmus, Iris I; Husemoen, Lise Lotte N LL; Skaaby, Tea T; Ahluwalia, Tarunveer S TS; Treur, Jorien L JL; Willemsen, Gonneke G; Dale, Caroline C; Wannamethee, S Goya SG; Lahti, Jari J; Palotie, Aarno A; Räikkönen, Katri K; Kisialiou, Aliaksei A; McConnachie, Alex A; Padmanabhan, Sandosh S; Wong, Andrew A; Dalgård, Christine C; Paternoster, Lavinia L; Ben-Shlomo, Yoav Y; Tyrrell, Jessica J; Horwood, John J; Fergusson, David M DM; Kennedy, Martin A MA; Frayling, Tim T; Nohr, Ellen A EA; Christiansen, Lene L; Ohm Kyvik, Kirsten K; Kuh, Diana D; Watt, Graham G; Eriksson, Johan J; Whincup, Peter H PH; Vink, Jacqueline M JM; Boomsma, Dorret I DI; Davey Smith, George G; Lawlor, Debbie D; Linneberg, Allan A; Ford, Ian I; Jukema, J Wouter JW; Power, Christine C; Hyppönen, Elina E; Jarvelin, Marjo-Riitta MR; Preisig, Martin M; Borodulin, Katja K; Kaprio, Jaakko J; Kivimaki, Mika M; Smith, Blair H BH; Hayward, Caroline C; Romundstad, Pål R PR; Sørensen, Thorkild I A TI; Munafò, Marcus R MR; Sattar, Naveed 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: CHRNA3: K97K; rs3743075
Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma.
Plos One
Tseng, Tung-Sung TS; Park, Jong Y JY; Zabaleta, Jovanny J; Moody-Thomas, Sarah S; Sothern, Melinda S MS; Chen, Ted T; Evans, David E DE; Lin, Hui-Yi HY
Genetic risk for nicotine dependence in the cholinergic system and activation of the brain reward system in healthy adolescents.
Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Nees, F F; Witt, S H SH; Lourdusamy, A A; Vollstädt-Klein, S S; Steiner, S S; Poustka, L L; Banaschewski, T T; Barker, G J GJ; Büchel, C C; Conrod, P J PJ; Frank, J J; Gallinat, J J; Garavan, H H; Heinz, A A; Ittermann, B B; Loth, E E; Mann, K K; Artiges, E E; Paus, T T; Pausova, Z Z; Smolka, M N MN; Struve, M M; Schumann, G G; Rietschel, M M; Flor, H H; ,
Genetics of sputum gene expression in chronic obstructive pulmonary disease.
Plos One
Qiu, Weiliang W; Cho, Michael H MH; Riley, John H JH; Anderson, Wayne H WH; Singh, Dave D; Bakke, Per P; Gulsvik, Amund A; Litonjua, Augusto A AA; Lomas, David A DA; Crapo, James D JD; Beaty, Terri H TH; Celli, Bartolome R BR; Rennard, Stephen S; Tal-Singer, Ruth R; Fox, Steven M SM; Silverman, Edwin K EK; Hersh, Craig P CP; ,
Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes.
The Pharmacogenomics Journal
Swan, G E GE; Javitz, H S HS; Jack, L M LM; Wessel, J J; Michel, M M; Hinds, D A DA; Stokowksi, R P RP; McClure, J B JB; Catz, S L SL; Richards, J J; Zbikowski, S M SM; Deprey, M M; McAfee, T T; Conti, D V DV; Bergen, A W AW
Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence.
Human Genetics
Culverhouse, Robert C RC; Saccone, Nancy L NL; Stitzel, Jerry A JA; Wang, Jen C JC; Steinbach, Joseph H JH; Goate, Alison M AM; Schwantes-An, Tae-Hwi TH; Grucza, Richard A RA; Stevens, Victoria L VL; Bierut, Laura J LJ
Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Wessel, Jennifer J; McDonald, Sarah M SM; Hinds, David A DA; Stokowski, Renee P RP; Javitz, Harold S HS; Kennemer, Michael M; Krasnow, Ruth R; Dirks, William W; Hardin, Jill J; Pitts, Steven J SJ; Michel, Martha M; Jack, Lisa L; Ballinger, Dennis G DG; McClure, Jennifer B JB; Swan, Gary E GE; Bergen, Andrew W AW
Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study.
Journal Of The National Cancer Institute
Amos, Christopher I CI; Gorlov, Ivan P IP; Dong, Qiong Q; Wu, Xifeng X; Zhang, Huifeng H; Lu, Emily Y EY; Scheet, Paul P; Greisinger, Anthony J AJ; Mills, Gordon B GB; Spitz, Margaret R MR
Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes.
Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Sherva, Richard R; Kranzler, Henry R HR; Yu, Yi Y; Logue, Mark W MW; Poling, James J; Arias, Albert J AJ; Anton, Raymond F RF; Oslin, David D; Farrer, Lindsay A LA; Gelernter, Joel J
Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Li, Ming D MD; Xu, Qing Q; Lou, Xiang-Yang XY; Payne, Thomas J TJ; Niu, Tianhua T; Ma, Jennie Z JZ
Natural variation within the neuronal nicotinic acetylcholine receptor cluster on human chromosome 15q24: influence on heritable autonomic traits in twin pairs.
The Journal Of Pharmacology And Experimental Therapeutics
Rana, Brinda K BK; Wessel, Jennifer J; Mahboubi, Vafa V; Rao, Fangwen F; Haeller, Jeannine J; Gayen, Jiaur R JR; Eskin, Eleazar E; Valle, Anne M AM; Das, Madhusudan M; Mahata, Sushil K SK; Taupenot, Laurent L; Stridsberg, Mats M; Talley, Todd T TT; Ziegler, Michael G MG; Smith, Douglas W DW; Schork, Nicholas J NJ; O'Connor, Daniel T DT; Taylor, Palmer P
Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15.
Human Molecular Genetics
Keskitalo, Kaisu K; Broms, Ulla U; Heliövaara, Markku M; Ripatti, Samuli S; Surakka, Ida I; Perola, Markus M; Pitkäniemi, Janne J; Peltonen, Leena L; Aromaa, Arpo A; Kaprio, Jaakko J
Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
Human Molecular Genetics
Wang, Jen C JC; Cruchaga, Carlos C; Saccone, Nancy L NL; Bertelsen, Sarah S; Liu, Pengyuan P; Budde, John P JP; Duan, Weimin W; Fox, Louis L; Grucza, Richard A RA; Kern, Jason J; Mayo, Kevin K; Reyes, Oliver O; Rice, John J; Saccone, Scott F SF; Spiegel, Noah N; Steinbach, Joseph H JH; Stitzel, Jerry A JA; Anderson, Marshall W MW; You, Ming M; Stevens, Victoria L VL; Bierut, Laura J LJ; Goate, Alison M AM; ,
Variants in nicotinic receptors and risk for nicotine dependence.
The American Journal Of Psychiatry
Bierut, Laura Jean LJ; Stitzel, Jerry A JA; Wang, Jen C JC; Hinrichs, Anthony L AL; Grucza, Richard A RA; Xuei, Xiaoling X; Saccone, Nancy L NL; Saccone, Scott F SF; Bertelsen, Sarah S; Fox, Louis L; Horton, William J WJ; Breslau, Naomi N; Budde, John J; Cloninger, C Robert CR; Dick, Danielle M DM; Foroud, Tatiana T; Hatsukami, Dorothy D; Hesselbrock, Victor V; Johnson, Eric O EO; Kramer, John J; Kuperman, Samuel S; Madden, Pamela A F PA; Mayo, Kevin K; Nurnberger, John J; Pomerleau, Ovide O; Porjesz, Bernice B; Reyes, Oliver O; Schuckit, Marc M; Swan, Gary G; Tischfield, Jay A JA; Edenberg, Howard J HJ; Rice, John P JP; Goate, Alison M AM