CRISPR/Cas9-induced double-strand breaks in the huntingtin locus lead to CAG repeat contraction through DNA end resection and homology-mediated repair.

Autor: Sledzinski, Pawel¹ (AUTHOR), Nowaczyk, Mateusz¹ (AUTHOR), Smielowska, Marianna Iga¹ (AUTHOR), Olejniczak, Marta¹ (AUTHOR) marta.olejniczak@ibch.poznan.pl

Publikováno v: BMC Biology. 12/3/2024, Vol. 22 Issue 1, p1-21. 21p.

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Autor: Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Stewart K; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., McLellan A; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh, UK., O'Regan M; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., MacLeod S; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Jollands A; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Kirkpatrick M; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Brunklaus A; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Pilz DT; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Shetty J; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh, UK., Dorris L; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Abu-Arafeh I; Department of Paediatrics, Forth Valley Royal Hospital, Larbert, UK., Andrew J; Department of Paediatrics, University Hospital Wishaw, Netherton Street, Wishaw, UK., Brink P; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Callaghan M; Department of Paediatrics, University Hospital Wishaw, Netherton Street, Wishaw, UK., Cruden J; Department of Paediatrics, Victoria Hospital, Kirkcaldy, UK., Diver LA; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Findlay C; Department of Paediatrics, University Hospital Crosshouse, Kilmarnock, UK., Gardiner S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Grattan R; Department of Paediatrics, Forth Valley Royal Hospital, Larbert, UK., Lang B; Nuffield Department of Clinical Neurosciences, Level 6, West Wing, John Radcliffe Hospital, Oxford, UK., MacDonnell J; Department of Paediatrics, Borders General Hospital, Melrose, UK., McKnight J; Department of Paediatrics, Dumfries and Galloway Royal Infirmary, Dumfries, UK., Morrison CA; Department of Paediatrics, University Hospital Crosshouse, Kilmarnock, UK., Nairn L; Department of Paediatrics, Royal Alexandra Hospital, Paisley, UK., Slean MM; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Stephen E; Department of Paediatrics, Royal Aberdeen Children's Hospital, Aberdeen, UK., Webb A; Department of Paediatrics, Raigmore Hospital, Inverness, UK., Vincent A; Nuffield Department of Clinical Neurosciences, Level 6, West Wing, John Radcliffe Hospital, Oxford, UK., Wilson M; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2019 Aug 01; Vol. 142 (8), pp. 2303-2318.

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks.

Autor: Slean MM; Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada., Panigrahi GB; Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada., Castel AL; Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada., Pearson AB; Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada; Department of Microbiology & Immunology, Dalhousie University, Nova Scotia, Canada., Tomkinson AE; Department of Internal Medicine, University of New Mexico School of Medicine, Albuquerque, NM 87131, USA; Department of Molecular Genetics and Microbiology, University of New Mexico School of Medicine, Albuquerque, NM 87131, USA; University of New Mexico Cancer Center,University of New Mexico School of Medicine, Albuquerque, NM 87131, USA., Pearson CE; Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada. Electronic address: cepearson.sickkids@gmail.com.

Publikováno v: DNA repair [DNA Repair (Amst)] 2016 Jun; Vol. 42, pp. 107-18. Date of Electronic Publication: 2016 Apr 16.

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.

Autor: Tomé S; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Manley K, Simard JP, Clark GW, Slean MM, Swami M, Shelbourne PF, Tillier ER, Monckton DG, Messer A, Pearson CE

Publikováno v: PLoS genetics [PLoS Genet] 2013; Vol. 9 (2), pp. e1003280. Date of Electronic Publication: 2013 Feb 28.

Human mismatch repair protein hMutLα is required to repair short slipped-DNAs of trinucleotide repeats.

Autor: Panigrahi GB; Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Slean MM, Simard JP, Pearson CE

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2012 Dec 07; Vol. 287 (50), pp. 41844-50. Date of Electronic Publication: 2012 Oct 18.