A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia.

Autor: Kadirvelu B; Brain & Behaviour Lab, Department of Bioengineering, Imperial College London, London, UK.; Brain & Behaviour Lab, Department of Computing, Imperial College London, London, UK., Gavriel C; Brain & Behaviour Lab, Department of Bioengineering, Imperial College London, London, UK.; Brain & Behaviour Lab, Department of Computing, Imperial College London, London, UK., Nageshwaran S; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK., Chan JPK; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK., Nethisinghe S; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK., Athanasopoulos S; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK., Ricotti V; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Voit T; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Giunti P; Institute of Neurology, UCL, National Hospital for Neurology and Neurosurgery (UCLH), London, UK., Festenstein R; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK.; Institute of Neurology, UCL, National Hospital for Neurology and Neurosurgery (UCLH), London, UK.; MRC London Institute of Medical Sciences, London, UK., Faisal AA; Brain & Behaviour Lab, Department of Bioengineering, Imperial College London, London, UK. aldo.faisal@imperial.ac.uk.; Brain & Behaviour Lab, Department of Computing, Imperial College London, London, UK. aldo.faisal@imperial.ac.uk.; MRC London Institute of Medical Sciences, London, UK. aldo.faisal@imperial.ac.uk.; Behaviour Analytics Lab, Data Science Institute, Imperial College London, London, UK. aldo.faisal@imperial.ac.uk.; Brain & Behaviour Lab, Institute for Artificial and Human Intelligence, University of Bayreuth, Bayreuth, Germany. aldo.faisal@imperial.ac.uk.; Chair in Digital Health, Faculty of Life Sciences, University of Bayreuth, Bayreuth, Germany. aldo.faisal@imperial.ac.uk.

Publikováno v: Nature medicine [Nat Med] 2023 Jan; Vol. 29 (1), pp. 86-94. Date of Electronic Publication: 2023 Jan 19.

Mouse HP1γ regulates TRF1 expression and telomere stability.

Autor: Stylianakis E; Telomere Replication & Stability group, Medical Research Council London Institute of Medical Sciences, London, United Kingdom; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom; Gene Control Mechanisms and Disease Group, Faculty of Medicine, Department of Brain Sciences, Imperial College London, London, United Kingdom., Chan JPK; Gene Control Mechanisms and Disease Group, Faculty of Medicine, Department of Brain Sciences, Imperial College London, London, United Kingdom., Law PP; Gene Control Mechanisms and Disease Group, Faculty of Medicine, Department of Brain Sciences, Imperial College London, London, United Kingdom., Jiang Y; Gene Control Mechanisms and Disease Group, Faculty of Medicine, Department of Brain Sciences, Imperial College London, London, United Kingdom., Khadayate S; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom., Karimi MM; Comprehensive Cancer Centre, School of Cancer & Pharmaceutical Sciences, Faculty of Life Sciences & Medicine, King's College London, London, United Kingdom., Festenstein R; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom; Gene Control Mechanisms and Disease Group, Faculty of Medicine, Department of Brain Sciences, Imperial College London, London, United Kingdom., Vannier JB; Telomere Replication & Stability group, Medical Research Council London Institute of Medical Sciences, London, United Kingdom; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom. Electronic address: jvannier@ic.ac.uk.

Publikováno v: Life sciences [Life Sci] 2023 Oct 15; Vol. 331, pp. 122030. Date of Electronic Publication: 2023 Aug 18.

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.

Autor: Thomas-Black G; The Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals Foundation NHS Trust, London, UK., Altmann DR; Medical Statistics Department, London School of Hygiene and Tropical Medicine, London, UK., Crook H; The Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Solanky N; The Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Carrasco FP; Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, University College London (UCL) Queen Square Institute of Neurology, Faculty of Brain Sciences, UCL, London, UK.; Department of Medical Physics and Biomedical Engineering, Centre for Medical Image Computing, UCL, London, UK.; e-Health Centre, Open University of Catalonia, Barcelona, Spain., Battiston M; Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, University College London (UCL) Queen Square Institute of Neurology, Faculty of Brain Sciences, UCL, London, UK., Grussu F; Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, University College London (UCL) Queen Square Institute of Neurology, Faculty of Brain Sciences, UCL, London, UK.; Centre for Medical Image Computing, Department of Computer Science, University College London, London, UK.; Radiomics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Yiannakas MC; Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, University College London (UCL) Queen Square Institute of Neurology, Faculty of Brain Sciences, UCL, London, UK., Kanber B; Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, University College London (UCL) Queen Square Institute of Neurology, Faculty of Brain Sciences, UCL, London, UK.; Department of Medical Physics and Biomedical Engineering, Centre for Medical Image Computing, UCL, London, UK., Jolly JK; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Vision and Eye Research Institute, Anglia Ruskin University, Cambridge, UK., Brett J; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Downes SM; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Moran M; NIHR Clinical Research Network, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Chan PK; Gene Control Mechanisms and Disease Group, Department of Medicine, Division of Brain Sciences and MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, London, UK., Adewunmi E; Gene Control Mechanisms and Disease Group, Department of Medicine, Division of Brain Sciences and MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, London, UK., Gandini Wheeler-Kingshott CAM; Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, University College London (UCL) Queen Square Institute of Neurology, Faculty of Brain Sciences, UCL, London, UK.; Brain MRI 3T Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Németh AH; NIHR Clinical Research Network, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Festenstein R; Gene Control Mechanisms and Disease Group, Department of Medicine, Division of Brain Sciences and MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, London, UK., Bremner F; National Hospital for Neurology and Neurosurgery, University College London Hospitals Foundation NHS Trust, London, UK., Giunti P; The Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals Foundation NHS Trust, London, UK.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Jun; Vol. 38 (6), pp. 959-969. Date of Electronic Publication: 2022 Nov 25.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Autor: Schon KR; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Wei W; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Calabrese C; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK., Ibañez K; William Harvey Research Institute, Queen Mary University of London, London, UK., Ratnaike T; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Quinlivan R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Clement E; Department of Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ashton E; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brennan P; Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK., Josifova D; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Izatt L; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Fratter C; NHS Highly Specialised Services for Rare Mitochondrial Disorders - Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Nesbitt V; NHS Highly Specialised Services for Rare Mitochondrial Disorders - Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Barrett T; Central and South Genome Medicine Service Alliance and Genomics Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., McMullen DJ; Central and South Genome Medicine Service Alliance and Genomics Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK., Deshpande C; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK., Smithson SF; Department of Brain Sciences, London Institute of Medical Sciences, Mansfield Centre for Inovation, Imperial College, Hammersmith Hospital, London, UK., Festenstein R, Canham N; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Caulfield M; Genomics England, William Harvey Research Institute, Queen Mary University of London, London, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Neurology and Mitochondrial Disorders Genomics Clinical Interpretation Partnership, William Harvey Research Institute, Queen Mary University of London, London, UK., Rahman S; Neurology and Mitochondrial Disorders Genomics Clinical Interpretation Partnership, William Harvey Research Institute, Queen Mary University of London, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Mitochondrial Research Group, Department of Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Chinnery PF; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Neurology and Mitochondrial Disorders Genomics Clinical Interpretation Partnership, William Harvey Research Institute, Queen Mary University of London, London, UK.

Publikováno v: BMJ (Clinical research ed.) [BMJ] 2021 Nov 03; Vol. 375, pp. e066288. Date of Electronic Publication: 2021 Nov 03.

Transcriptional Activation of Pericentromeric Satellite Repeats and Disruption of Centromeric Clustering upon Proteasome Inhibition

Autor: Natisvili, T, Yandim, C, Silva, R, Emanuelli, G, Krueger, F, Nageshwaran, S, Festenstein, R

Publikováno v: PLoS ONE
PLoS ONE, Vol 11, Iss 11, p e0165873 (2016)

Heterochromatinisation of pericentromeres, which in mice consist of arrays of major satellite repeats, are important for centromere formation and maintenance of genome stability. The dysregulation of this process has been linked to genomic stress and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f2a51d514404cabe8304a14a438ae1a4
http://europepmc.org/articles/PMC5091837