Massive contractions of myotonic dystrophy type 2-associated CCTG tetranucleotide repeats occur via double-strand break repair with distinct requirements for DNA helicases.

Autor: Papp, David¹ (AUTHOR), Hernandez, Luis A¹ (AUTHOR), Mai, Theresa A¹ (AUTHOR), Haanen, Terrance J¹ (AUTHOR), O'Donnell, Meghan A¹ (AUTHOR), Duran, Ariel T¹ (AUTHOR), Hernandez, Sophia M¹ (AUTHOR), Narvanto, Jenni E¹ (AUTHOR), Arguello, Berenice¹ (AUTHOR), Onwukwe, Marvin O¹ (AUTHOR), Mirkin, Sergei M² (AUTHOR), Kim, Jane C¹ (AUTHOR) jckim@csusm.edu

Publikováno v: G3: Genes | Genomes | Genetics. Feb2024, Vol. 14 Issue 2, p1-13. 13p.

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

Autor: Lu, Jinfeng^1,2 (AUTHOR) jl5103@cumc.columbia.edu, Toro, Camilo³ (AUTHOR), Adams, David R.³ (AUTHOR), Acosta, Maria T. (AUTHOR), Adam, Margaret (AUTHOR), Alvarez, Raquel L. (AUTHOR), Alvey, Justin (AUTHOR), Amendola, Laura (AUTHOR), Andrews, Ashley (AUTHOR), Ashley, Euan A. (AUTHOR), Bacino, Carlos A. (AUTHOR), Bademci, Guney (AUTHOR), Balasubramanyam, Ashok (AUTHOR), Baldridge, Dustin (AUTHOR), Bale, Jim (AUTHOR), Bamshad, Michael (AUTHOR), Barbouth, Deborah (AUTHOR), Bayrak-Toydemir, Pinar (AUTHOR), Beck, Anita (AUTHOR), Beggs, Alan H. (AUTHOR)

Publikováno v: BMC Genomics. 1/26/2024, Vol. 25 Issue 1, p1-22. 22p.

The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.

Autor: Monckton, Darren G.¹ (AUTHOR) darren.monckton@glasgow.ac.uk, Jones, Lesley (AUTHOR), Pearson, Christopher E. (AUTHOR), Wheeler, Vanessa (AUTHOR)

Publikováno v: Journal of Huntington's Disease. 2021, Vol. 10 Issue 1, p7-33. 27p.

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.

Autor: Zhao, Xiaonan¹ (AUTHOR), Kumari, Daman¹ (AUTHOR), Miller, Carson J.¹ (AUTHOR), Kim, Geum-Yi¹ (AUTHOR), Hayward, Bruce¹ (AUTHOR), Vitalo, Antonia G.^2,3 (AUTHOR), Pinto, Ricardo Mouro^2,3,4 (AUTHOR) karenu@nih.gov, Usdin, Karen¹ (AUTHOR) karenu@nih.gov, Jones, Lesley (AUTHOR), Pearson, Christopher E. (AUTHOR), Wheeler, Vanessa (AUTHOR)

Publikováno v: Journal of Huntington's Disease. 2021, Vol. 10 Issue 1, p149-163. 15p.

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.

Autor: Rübben, Albert¹ (AUTHOR) albert_ruebben@post.rwth-aachen.de, Wahl, Renate Ursula¹ (AUTHOR), Eggermann, Thomas² (AUTHOR), Dahl, Edgar^3,4 (AUTHOR), Ortiz-Brüchle, Nadina^3,4 (AUTHOR), Cacchi, Claudio³ (AUTHOR)

Publikováno v: PLoS ONE. 3/10/2020, Vol. 15 Issue 3, p1-14. 14p.