Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ryan J McGinty"'
Autor:
Lei Qi, Yang Sui, Xing-Xing Tang, Ryan J McGinty, Xiao-Zhuan Liang, Margaret Dominska, Ke Zhang, Sergei M Mirkin, Dao-Qiong Zheng, Thomas D Petes
Publikováno v:
PLoS Genetics, Vol 19, Iss 1, p e1010590 (2023)
Although homologous recombination between transposable elements can drive genomic evolution in yeast by facilitating chromosomal rearrangements, the details of the underlying mechanisms are not fully clarified. In the genome of the yeast Saccharomyce
Externí odkaz:
https://doaj.org/article/e2c144da17f64f8f9a508562b585b3cc
Autor:
Ryan J. McGinty, Franco Puleo, Anna Y. Aksenova, Julia A. Hisey, Alexander A. Shishkin, Erika L. Pearson, Eric T. Wang, David E. Housman, Claire Moore, Sergei M. Mirkin
Publikováno v:
Cell Reports, Vol 20, Iss 10, Pp 2490-2500 (2017)
Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, including myotonic dystrophy and Friedreich’s ataxia. Whereas the length of an expandable repeat is the main factor determining disease inheritance, re
Externí odkaz:
https://doaj.org/article/0dfcf17ded7242c7a59c4d6e7f1ea13e
Publikováno v:
Cell Reports, Vol 9, Iss 5, Pp 1594-1602 (2014)
Summary: Expansions of simple DNA repeats cause numerous hereditary disorders in humans. Replication, repair, and transcription are implicated in the expansion process, but their relative contributions are yet to be distinguished. To separate the rol
Externí odkaz:
https://doaj.org/article/ee757d9e9c4e466db8710076d8ffe8ff
Autor:
Alexandra N. Khristich, Julia A. Hisey, Ryan J. McGinty, Sergei M. Mirkin, Alexander J. Neil, Marcin Hitczenko, Ishtiaque Quasem
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance The inheritance of long (GAA)n repeats in the frataxin gene causes the debilitating neurodegenerative disease Friedreich’s ataxia. Subsequent expansions of these repeats throughout a patient’s lifetime in the affected tissues, like t
Autor:
Josyf C. Mychaleckyj, Timothy D. O’Connor, Eric Boerwinkle, Yii-Der Ida Chen, Chii-Min Hwu, John Blangero, D. C. Rao, Patricia A. Peyser, Susan Redline, Shamil R. Sunyaev, Christian Gilissen, Esteban G. Burchard, Jerome I. Rotter, Ryan D. Hernandez, Braxton D. Mitchell, Courtney G. Montgomery, Stephen T. McGarvey, Sharon L.R. Kardia, Jakob M. Goldmann, Kathleen C. Barnes, Lisa de las Fuentes, Lawrence F. Bielak, Jiang He, Patrick T. Ellinor, Jennifer A. Smith, Peter V. Kharchenko, Ani Manichaikul, Wendy S.W. Wong, Adolfo Correa, Vladimir B. Seplyarskiy, Donna K. Arnett, Scott T. Weiss, Ruslan A. Soldatov, Edwin K. Silverman, Nicholette D. Palmer, Ryan J. McGinty, Stephen S. Rich, Leslie S. Emery, Vasan S. Ramachandran, Jennifer A. Brody
Mechanistic processes underlying human germline mutations remain largely unknown. Variation in mutation rate and spectra along the genome is informative about the biological mechanisms. We statistically decompose this variation into separate processe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4889223e95f444d6209b4b07f75123f
https://doi.org/10.1101/2020.01.10.893024
https://doi.org/10.1101/2020.01.10.893024
Autor:
Margaret Dominska, Thomas D. Petes, Alexander J. Neil, Rachel G. Rubinstein, Sergei M. Mirkin, Ryan J. McGinty, Denis A. Kiktev
Publikováno v:
Genome Research. 27:2072-2082
Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats i
Autor:
Franco Puleo, Anna Y. Aksenova, Claire Moore, Julia A. Hisey, David E. Housman, Sergei M. Mirkin, Erika L. Pearson, Ryan J. McGinty, Eric T. Wang, Alexander A. Shishkin
Publikováno v:
Cell Reports, Vol 20, Iss 10, Pp 2490-2500 (2017)
Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, including myotonic dystrophy and Friedreich’s ataxia. While the length of an expandable repeat is the main factor determining disease inheritance, rece
Autor:
Sergei M. Mirkin, Ryan J. McGinty
Over 30 hereditary diseases are caused by the expansion of microsatellite repeats. The length of the expandable repeat is the main hereditary determinant of these disorders. They are also affected by numerous genomic variants that are either nearby (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b92e4aee0f54ae137c68d616ea0dbc
https://europepmc.org/articles/PMC5959756/
https://europepmc.org/articles/PMC5959756/
Publikováno v:
Methods in Molecular Biology ISBN: 9781493973057
Instability of repetitive DNA sequences causes numerous hereditary disorders in humans, the majority of which are associated with trinucleotide repeat expansions. Here we describe a unique system to study instability of triplet repeats in a yeast exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c389d72b1746c9c1db397e5e4323bf05
https://doi.org/10.1007/978-1-4939-7306-4_29
https://doi.org/10.1007/978-1-4939-7306-4_29
Publikováno v:
Journal of Biomolecular Structure and Dynamics. 31:84-84
Expansions of simple repetitive DNA sequences are responsible for a large number of human hereditary diseases. The severity and age of onset of each disorder can be estimated from the length of the inherited repeat tract; however, the subsequent expa