Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and FAN1[original query] |
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| Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. Proceedings of the National Academy of Sciences of the United States of America 2014 Jan 111 (1): 343-8. Ionita-Laza Iuliana, Xu Bin, Makarov Vlad, Buxbaum Joseph D, Roos J Louw, Gogos Joseph A, Karayiorgou Mar |
| Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. Cancer letters 2015 Nov . Smith Alyssa L, Alirezaie Najmeh, Connor Ashton, Chan-Seng-Yue Michelle, Grant Robert, Selander Iris, Bascuñana Claire, Borgida Ayelet, Hall Anita, Whelan Thomas, Holter Spring, McPherson Treasa, Cleary Sean, Petersen Gloria M, Omeroglu Atilla, Saloustros Emmanouil, McPherson John, Stein Lincoln D, Foulkes William D, Majewski Jacek, Gallinger Steven, Zogopoulos Geor |
| DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Annals of neurology 2016 Apr . Bettencourt Conceição, Moss Davina Hensman, Flower Michael, Wiethoff Sarah, Brice Alexis, Goizet Cyril, Stevanin Giovanni, Koutsis Georgios, Karadima Georgia, Panas Marios, Yescas-Gómez Petra, García-Velázquez Lizbeth Esmeralda, Alonso-Vilatela María Elisa, Lima Manuela, Raposo Mafalda, Traynor Bryan, Sweeney Mary, Wood Nicholas, Giunti Paola, , Durr Alexandra, Holmans Peter, Houlden Henry, Tabrizi Sarah J, Jones Lesl |
| Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. Neuromolecular medicine 2019 Oct . Mergener Rafaella, Furtado Gabriel Vasata, de Mattos Eduardo Preusser, Leotti Vanessa Bielefeldt, Jardim Laura Bannach, Saraiva-Pereira Maria Lui |
| A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine 2019 Oct . Ciosi Marc, Maxwell Alastair, Cumming Sarah A, Hensman Moss Davina J, Alshammari Asma M, Flower Michael D, Durr Alexandra, Leavitt Blair R, Roos Raymund A C, , , Holmans Peter, Jones Lesley, Langbehn Douglas R, Kwak Seung, Tabrizi Sarah J, Monckton Darren |
| Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. American journal of human genetics 2020 6 107 (1): 96-110. Kim Kyung-Hee, Hong Eun Pyo, Shin Jun Wan, Chao Michael J, Loupe Jacob, Gillis Tammy, Mysore Jayalakshmi S, Holmans Peter, Jones Lesley, Orth Michael, Monckton Darren G, Long Jeffrey D, Kwak Seung, Lee Ramee, Gusella James F, MacDonald Marcy E, Lee Jong-M |
| Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis. BMC nephrology 2020 3 21 (1): 74. Law Steven, Gillmore Julian, Gilbertson Janet A, Bass Paul, Salama Alan |
| Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. Human mutation 2020 Dec . Felicio Paula S, Grasel Rebeca S, Campacci Natalia, de Paula Andre E, Galvão Henrique C R, Torrezan Giovana T, Sabato Cristina S, Fernandes Gabriela C, Souza Cristiano P, Michelli Rodrigo D, Andrade Carlos E, Barros Bruna Durães De Figueiredo, Matsushita Marcus M, Revil Timothée, Ragoussis Jiannis, Couch Fergus J, Hart Steven N, Reis Rui M, Melendez Matias E, Tonin Patricia N, Carraro Dirce M, Palmero Edenir |
| Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature neuroscience 2022 4 25 (4): 446-457. McAllister Branduff, Donaldson Jasmine, Binda Caroline S, Powell Sophie, Chughtai Uroosa, Edwards Gareth, Stone Joseph, Lobanov Sergey, Elliston Linda, Schuhmacher Laura-Nadine, Rees Elliott, Menzies Georgina, Ciosi Marc, Maxwell Alastair, Chao Michael J, Hong Eun Pyo, Lucente Diane, Wheeler Vanessa, Lee Jong-Min, MacDonald Marcy E, Long Jeffrey D, Aylward Elizabeth H, Landwehrmeyer G Bernhard, Rosser Anne E, , Paulsen Jane S, , Williams Nigel M, Gusella James F, Monckton Darren G, Allen Nicholas D, Holmans Peter, Jones Lesley, Massey Thomas |
| Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes. Nature communications 2022 12 13 (1): 7682. Wendt Frank R, Pathak Gita A, Polimanti Rena |
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