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
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.
International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15
Variant appearance in text: CHRNA2: Thr22Ile; rs2472553
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: CHRNA2: 65C>T; T22I; rs2472553
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
Publication Date: 2021-01-21
Variant appearance in text: CHRNA2: 65C>T; Thr22Ile; rs2472553
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: CHRNA2: T22I; rs2472553
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
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
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.
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04
Variant appearance in text: CHRNA2: T22I; rs2472553
Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.
Bmc Systems Biology
Reyes-Gibby, Cielito C CC; Yuan, Christine C; Wang, Jian J; Yeung, Sai-Ching J SC; Shete, Sanjay S
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: CHRNA2: T22I; rs2472553
Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations.
Human Genetics
Wang, Shaolin S; D van der Vaart, Andrew A; Xu, Qing Q; Seneviratne, Chamindi C; Pomerleau, Ovide F OF; Pomerleau, Cynthia S CS; Payne, Thomas J TJ; Ma, Jennie Z JZ; Li, Ming D MD
Publication Date: 2014-05
Variant appearance in text: CHRNA2: T22I; rs2472553
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