Zobrazeno 1 - 10 of 853 pro vyhledávání: '"Ciosi, M."'
1
Akademický článek
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Autor: Ruiz de Sabando A; Department of Medical Genetics, Hospital Universitario de Navarra, IdiSNA, 31008, Pamplona, Spain.; Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, 31008, Pamplona, Spain.; Fundación Miguel Servet-Navarrabiomed, IdiSNA, 31008, Pamplona, Spain., Ciosi M; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK., Galbete A; Department of Statistics, Informatics and Mathematics, Universidad Pública de Navarra, IdiSNA, 31006, Pamplona, Spain., Cumming SA; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK., Monckton DG; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK., Ramos-Arroyo MA; Department of Medical Genetics, Hospital Universitario de Navarra, IdiSNA, 31008, Pamplona, Spain. ma.ramos.arroyo@navarra.es.; Fundación Miguel Servet-Navarrabiomed, IdiSNA, 31008, Pamplona, Spain. ma.ramos.arroyo@navarra.es.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 770-778. Date of Electronic Publication: 2024 Mar 04.
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3
Akademický článek
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Autor: Kim KH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA 02115., Hong EP; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA 02115., Lee Y; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA 02115., McLean ZL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA 02115.; Medical and Population Genetics Program, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142., Elezi E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114., Lee R; CHDI Foundation, Princeton, NJ 08540., Kwak S; CHDI Foundation, Princeton, NJ 08540., McAllister B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom., Massey TH; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom., Lobanov S; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom., Holmans P; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom., Orth M; University Hospital of Old Age Psychiatry and Psychotherapy, Bern University, CH-3000 Bern 60, Switzerland., Ciosi M; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, United Kingdom., Monckton DG; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, United Kingdom., Long JD; Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242.; Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA 52242., Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114., Wheeler VC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA 02115., MacDonald ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA 02115.; Medical and Population Genetics Program, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142., Gusella JF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Medical and Population Genetics Program, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115., Lee JM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA 02115.; Medical and Population Genetics Program, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Apr 16; Vol. 121 (16), pp. e2322924121. Date of Electronic Publication: 2024 Apr 12.
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4
Akademický článek
Modification of Huntington's disease by short tandem repeats.
Autor: Hong EP; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA., Ramos EM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Aziz NA; Population & Clinical Neuroepidemiology, German Center for Neurodegenerative Diseases, 53127 Bonn, Germany.; Department of Neurology, Faculty of Medicine, University of Bonn, Bonn D-53113, Germany., Massey TH; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., McAllister B; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Lobanov S; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Jones L; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Holmans P; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Kwak S; Molecular System Biology, CHDI Foundation, Princeton, NJ 08540, USA., Orth M; University Hospital of Old Age Psychiatry and Psychotherapy, Bern University, CH-3000 Bern 60, Switzerland., Ciosi M; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Lomeikaite V; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Monckton DG; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Long JD; Department of Psychiatry, Carver College of Medicine and Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA 52242, USA., Lucente D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Wheeler VC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Gillis T; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA., Sequeiros J; UnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 420-135, Portugal.; ICBAS School of Medicine and Biomedical Sciences, University of Porto, Porto 420-135, Portugal., Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA., Lee JM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
Publikováno v: Brain communications [Brain Commun] 2024 Jan 23; Vol. 6 (2), pp. fcae016. Date of Electronic Publication: 2024 Jan 23 (Print Publication: 2024).
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5
Akademický článek
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
Autor: McAllister B; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Donaldson J; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Binda CS; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Powell S; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Chughtai U; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Edwards G; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Stone J; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Lobanov S; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Elliston L; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Schuhmacher LN; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Rees E; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Menzies G; School of Biosciences, Cardiff University, Cardiff, UK., Ciosi M; Institute of Molecular, Cell and Systems Biology, University of Glasgow, Glasgow, UK., Maxwell A; Institute of Molecular, Cell and Systems Biology, University of Glasgow, Glasgow, UK., Chao MJ; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Hong EP; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Lucente D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Wheeler V; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Lee JM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics Program, Broad Institute, Cambridge, MA, USA., MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics Program, Broad Institute, Cambridge, MA, USA., Long JD; Departments of Psychiatry and Biostatistics, University of Iowa, Iowa City, IA, USA., Aylward EH; Seattle Children's Research Institute, Seattle, WA, USA., Landwehrmeyer GB; Department of Neurology, University of Ulm, Ulm, Germany., Rosser AE; Brain Repair Group, Schools of Medicine and Biosciences, Cardiff University, Cardiff, UK.; Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK., Paulsen JS; University of Wisconsin, Madison, WI, USA., Williams NM; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics Program, Broad Institute, Cambridge, MA, USA., Monckton DG; Institute of Molecular, Cell and Systems Biology, University of Glasgow, Glasgow, UK., Allen ND; School of Biosciences, Cardiff University, Cardiff, UK., Holmans P; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Jones L; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK. jonesl1@cardiff.ac.uk.; UK Dementia Research Institute at Cardiff, Cardiff University, Cardiff, UK. jonesl1@cardiff.ac.uk., Massey TH; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK. masseyt1@cardiff.ac.uk.
Publikováno v: Nature neuroscience [Nat Neurosci] 2022 Apr; Vol. 25 (4), pp. 446-457. Date of Electronic Publication: 2022 Apr 04.
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7
Akademický článek
Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.
Autor: Ruiz de Sabando A; Department of Medical Genetics, Hospital Universitario de Navarra, IdiSNA, Pamplona 31008, Spain.; Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, Pamplona 31008, Spain.; Fundación Miguel Servet-Navarrabiomed, IdiSNA, Pamplona 31008, Spain., Urrutia Lafuente E; Fundación Miguel Servet-Navarrabiomed, IdiSNA, Pamplona 31008, Spain., Galbete A; Department of Statistics, Informatics and Mathematics, Universidad Pública de Navarra, IdiSNA, Pamplona 31006, Spain., Ciosi M; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., García Amigot F; Department of Medical Genetics, Hospital Universitario de Navarra, IdiSNA, Pamplona 31008, Spain., García Solaesa V; Department of Medical Genetics, Hospital Universitario de Navarra, IdiSNA, Pamplona 31008, Spain., Monckton DG; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Ramos-Arroyo MA; Department of Medical Genetics, Hospital Universitario de Navarra, IdiSNA, Pamplona 31008, Spain.; Fundación Miguel Servet-Navarrabiomed, IdiSNA, Pamplona 31008, Spain.
Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Mar 06; Vol. 32 (6), pp. 897-906.
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8
Akademický článek
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Autor: Taylor AS; UK Dementia Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK., Barros D; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland., Gobet N; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland., Schuepbach T; Vital-IT Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.; Newbiologix, Ch. De la corniche 6-8, 1066 Epalinges, Switzerland., McAllister B; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Aeschbach L; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland., Randall EL; UK Dementia Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK., Trofimenko E; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland.; Sorbonne Université, École normale supérieure, PSL University, CNRS, Laboratoire des biomolécules, LBM, 75005 Paris, France., Heuchan ER; UK Dementia Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK., Barszcz P; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland., Ciosi M; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, Davidson Building, University of Glasgow, Glasgow, G12 8QQ, UK., Morgan J; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK., Hafford-Tear NJ; UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK., Davidson AE; UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK., Massey TH; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK., Monckton DG; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, Davidson Building, University of Glasgow, Glasgow, G12 8QQ, UK., Jones L; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK., Network RIOTEHD, Xenarios I; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland.; Health2030 Genome Center, Ch des Mines 14, 1202 Genève, Switzerland., Dion V; UK Dementia Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
Publikováno v: NAR genomics and bioinformatics [NAR Genom Bioinform] 2022 Dec 05; Vol. 4 (4), pp. lqac089. Date of Electronic Publication: 2022 Dec 05 (Print Publication: 2022).
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9
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
Autor: Ciosi, M., Maxwell, A., Cumming, S.A., Moss, D.J.H., Alshammari, A.M., Flower, M.D., Durr, A., Leavitt, B.R., Roos, R.A.C., Holmans, P., Jones, L., Langbehn, D.R., Kwak, S., Tabrizi, S.J., Monckton, D.G., TRACK-HD Team, Enroll-HD Team
Publikováno v: EBioMedicine, Vol 48, Iss, Pp 568-580 (2019)
EBioMedicine, 48, 568-580
EBioMedicine
EBioMedicine, Elsevier, 2019, 48, pp.568-580. ⟨10.1016/j.ebiom.2019.09.020⟩
Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CA
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0529634a2334ae4526499f553a1668
https://orca.cardiff.ac.uk/id/eprint/125434/3/1-s2.0-S2352396419306243-main.pdf
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10
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
Autor: Flower, M, Lomeikaite, V, Ciosi, M, Cumming, S, Morales, F, Lo, K, Hensman Moss, D, Jones, L, Holmans, P, TRACK-HD Investigators, OPTIMISTIC Consortium, Monckton, DG, Tabrizi, SJ
The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington's disease and myotonic dystrophy type 1. A recent Huntington's disease genome-wide association study found rs557874766, an i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c1bbd08bd991cf0b2db3df1f5b875b9a
https://openaccess.sgul.ac.uk/id/eprint/113056/1/awz115.pdf
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