Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Heales SJ"'
Autor:
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Pérez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA
Publikováno v:
NATURE GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2704902d0305fbe3d8dc66d2b7cbf736
https://www.repository.cam.ac.uk/handle/1810/296243
https://www.repository.cam.ac.uk/handle/1810/296243
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
McNelly A; William Harvey Research Institute, Faculty of Medicine & Dentistry, Queen Mary University of London, London, UK., Langan A; Department of Dietetics, Adult Critical Care Unit, Royal London Hospital, London, UK., Bear DE; Department of Nutrition and Dietetics, St Thomas' NHS Foundation Trust, London, UK.; Department of Critical Care, Guy's and St. Thomas' NHS, London, UK., Page A; Adult Critical Care Unit, Royal London Hospital, London, UK., Martin T; Adult Critical Care Unit, Royal London Hospital, London, UK., Seidu F; Adult Critical Care Unit, Royal London Hospital, London, UK., Santos F; Adult Critical Care Unit, Royal London Hospital, London, UK., Rooney K; Department of Critical Care, Bristol Royal Infirmary, Bristol, UK., Liang K; William Harvey Research Institute, Faculty of Medicine & Dentistry, Queen Mary University of London, London, UK., Heales SJ; Genetic & Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, UK., Baldwin T; Developmental Biology & Cancer, UCL Great Ormond Street Institute of Child Health, London, UK., Alldritt I; Centre of Metabolism, Aging & Physiology (COMAP), MRC-Versus Arthritis Centre for Musculoskeletal Aging Research & NIHR Nottingham BRC, University of Nottingham, Nottingham, UK., Crossland H; Centre of Metabolism, Aging & Physiology (COMAP), MRC-Versus Arthritis Centre for Musculoskeletal Aging Research & NIHR Nottingham BRC, University of Nottingham, Nottingham, UK., Atherton PJ; Centre of Metabolism, Aging & Physiology (COMAP), MRC-Versus Arthritis Centre for Musculoskeletal Aging Research & NIHR Nottingham BRC, University of Nottingham, Nottingham, UK., Wilkinson D; Centre of Metabolism, Aging & Physiology (COMAP), MRC-Versus Arthritis Centre for Musculoskeletal Aging Research & NIHR Nottingham BRC, University of Nottingham, Nottingham, UK., Montgomery H; University College London (UCL), London, UK.; UCL Hospitals NHS Foundation Trust (UCLH), National Institute for Health Research (NIHR) Biomedical Research Centre (BRC), London, UK., Prowle J; William Harvey Research Institute, Faculty of Medicine & Dentistry, Queen Mary University of London, London, UK.; Adult Critical Care Unit, Royal London Hospital, London, UK., Pearse R; William Harvey Research Institute, Faculty of Medicine & Dentistry, Queen Mary University of London, London, UK.; Adult Critical Care Unit, Royal London Hospital, London, UK., Eaton S; Developmental Biology & Cancer, UCL Great Ormond Street Institute of Child Health, London, UK., Puthucheary ZA; William Harvey Research Institute, Faculty of Medicine & Dentistry, Queen Mary University of London, London, UK. Z.puthucheary@qmul.ac.uk.; Adult Critical Care Unit, Royal London Hospital, London, UK. Z.puthucheary@qmul.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2023 Dec 15; Vol. 14 (1), pp. 8345. Date of Electronic Publication: 2023 Dec 15.
Autor:
Ghosh R; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Wood-Kaczmar A; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Dobson L; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Smith EJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Sirinathsinghji EC; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Kriston-Vizi J; MRC Laboratory for Molecular Cell Biology, University College London, London, UK., Hargreaves IP; School of Pharmacy, Liverpool John Moores University, Liverpool, UK., Heaton R; School of Pharmacy, Liverpool John Moores University, Liverpool, UK., Herrmann F; Evotec AG, Hamburg, Germany., Abramov AY; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Lam AJ; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Heales SJ; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Ketteler R; MRC Laboratory for Molecular Cell Biology, University College London, London, UK., Bates GP; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Andre R; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Tabrizi SJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2020 Jun; Vol. 34 (6), pp. 8139-8154. Date of Electronic Publication: 2020 Apr 23.
Autor:
Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, 85764 Neuherberg, Germany., Meunier B; Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198 Gif-sur-Yvette, France., Mestek-Boukhibar L; GOSgene Centre for Translational Omics and NIHR GOSH Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., van den Broek F; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Maldonado EM; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Clement E; Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK., Weghuber D; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Jaros Z; Department of Pediatrics, Landesklinikum Zwettl, 3910 Zwettl, Austria., Taha F; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Yue WW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7DQ, UK., Heales SJ; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Neurometabolic Unit, National Hospital for Neurology, Queen Square, London WC1N 3BG, UK; Department of Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Davison JE; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. Electronic address: shamima.rahman@ucl.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Feb 06; Vol. 106 (2), pp. 256-263. Date of Electronic Publication: 2020 Jan 30.
Autor:
Keatley K; Brain Tumour Research Centre, Institute of Biological and Biomedical Sciences, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Stromei-Cleroux S; Brain Tumour Research Centre, Institute of Biological and Biomedical Sciences, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Wiltshire T; Centre for Enzyme Innovation, Institute of Biological and Biomedical Sciences, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DY, UK., Rajala N; Brain Tumour Research Centre, Institute of Biological and Biomedical Sciences, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Burton G; Institute of Cosmology and Gravitation, University of Portsmouth, Portsmouth PO1 3FX, UK., Holt WV; Academic Unit of Reproductive and Developmental Medicine, University of Sheffield, Sheffield S10 2SF, UK., Littlewood DTJ; Department of Life Sciences, Natural History Museum, London SW7 5BD, UK., Briscoe AG; Department of Life Sciences, Natural History Museum, London SW7 5BD, UK.; Core Research Laboratories, Natural History Museum, London SW7 5BD, UK., Jung J; Department of Neurosurgery, Kings College Hospital, London SE5 9RS, UK., Ashkan K; Department of Neurosurgery, Kings College Hospital, London SE5 9RS, UK., Heales SJ; Neurometabolic Unit, National Hospital for Neurology, London WC1N 3BG, UK.; Department of Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Pilkington GJ; Brain Tumour Research Centre, Institute of Biological and Biomedical Sciences, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Meunier B; Institute for Integrative Biology of the Cell, 91190 Gif-sur-Yvette, France., McGeehan JE; Centre for Enzyme Innovation, Institute of Biological and Biomedical Sciences, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DY, UK., Hargreaves IP; Neurometabolic Unit, National Hospital for Neurology, London WC1N 3BG, UK. i.hargreaves@ucl.ac.uk.; School of Pharmacy and Biomolecular Sciences, Liverpool John Moores University, Liverpool L3 3AF, UK. i.hargreaves@ucl.ac.uk., McGeehan RE; Brain Tumour Research Centre, Institute of Biological and Biomedical Sciences, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK. Rhiannon.mcgeehan@port.ac.uk.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2019 Jul 09; Vol. 20 (13). Date of Electronic Publication: 2019 Jul 09.
Autor:
Manea E; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital, London, UK., Gissen P; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital, London, UK., Pope S; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Heales SJ; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.; Department of Chemical Pathology, Great Ormond Street Hospital, London, UK., Batzios S; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital, London, UK. spyros.batzios@gmail.com.
Publikováno v:
JIMD reports [JIMD Rep] 2018; Vol. 39, pp. 7-12. Date of Electronic Publication: 2017 Jul 07.