MutLγ promotes repeat expansion in a Fragile X mouse model while EXO1 is protective
Zhao, Xiaonan, Zhang, Yongwei, Wilkins, Kenneth, Edelmann, Winfried, Usdin, Karen
Published in PLoS genetics (01.10.2018)
Published in PLoS genetics (01.10.2018)
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Repeat expansions confer WRN dependence in microsatellite-unstable cancers
van Wietmarschen, Niek, Sridharan, Sriram, Nathan, William J., Tubbs, Anthony, Chan, Edmond M., Callen, Elsa, Wu, Wei, Belinky, Frida, Tripathi, Veenu, Wong, Nancy, Foster, Kyla, Noorbakhsh, Javad, Garimella, Kiran, Cruz-Migoni, Abimael, Sommers, Joshua A., Huang, Yongqing, Borah, Ashir A., Smith, Jonathan T., Kalfon, Jeremie, Kesten, Nikolas, Fugger, Kasper, Walker, Robert L., Dolzhenko, Egor, Eberle, Michael A., Hayward, Bruce E., Usdin, Karen, Freudenreich, Catherine H., Brosh, Robert M., West, Stephen C., McHugh, Peter J., Meltzer, Paul S., Bass, Adam J., Nussenzweig, André
Published in Nature (London) (08.10.2020)
Published in Nature (London) (08.10.2020)
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Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells
Kumari, Daman, Biacsi, Rea Erika, Usdin, Karen
Published in The Journal of biological chemistry (11.02.2011)
Published in The Journal of biological chemistry (11.02.2011)
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Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation
Hwang, Ye Hyun, Hayward, Bruce Eliot, Zafarullah, Marwa, Kumar, Jay, Durbin Johnson, Blythe, Holmans, Peter, Usdin, Karen, Tassone, Flora
Published in Scientific reports (21.06.2022)
Published in Scientific reports (21.06.2022)
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Clinical implications of somatic allele expansion in female FMR1 premutation carriers
Aishworiya, Ramkumar, Hwang, Ye Hyun, Santos, Ellery, Hayward, Bruce, Usdin, Karen, Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora
Published in Scientific reports (29.04.2023)
Published in Scientific reports (29.04.2023)
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All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency
Hayward, Bruce, Kumari, Daman, Santra, Saikat, van Karnebeek, Clara D. M., van Kuilenburg, André B. P., Usdin, Karen
Published in Scientific reports (14.06.2024)
Published in Scientific reports (14.06.2024)
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Journal Article
A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?
Zhao, Xiao-Nan, Lokanga, Rachel, Allette, Kimaada, Gazy, Inbal, Wu, Di, Usdin, Karen
Published in PLoS genetics (01.07.2016)
Published in PLoS genetics (01.07.2016)
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When secondary comes first – The importance of non-canonical DNA structures
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Conference Proceeding
Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles
Lokanga, Rachel Adihe, Entezam, Ali, Kumari, Daman, Yudkin, Dmitry, Qin, Mei, Smith, Carolyn Beebe, Usdin, Karen
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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