Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Autor: Tolonen JP; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Parolin Schnekenberg R; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., McGowan S; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Sims D; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., McEntagart M; South West Regional Genetics Service, St. George's University Hospitals, London, UK., Elmslie F; South West Regional Genetics Service, St. George's University Hospitals, London, UK., Shears D; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., Stewart H; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Dabir T; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Morrison PJ; Patrick G. Johnston Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Hadjivassiliou M; Department of Neurology, Royal Hallamshire Hospital, Sheffield Teaching Hospital NHS Foundation Trust, Sheffield, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, UK., Shaw-Smith C; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Znaczko A; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Dixit A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Jones G; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Ceravolo G; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Unit of Pediatric Emergency, Department of Adult and Childhood Human Pathology, University Hospital of Messina, Messina, Italy., Jarvis J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Williams J; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Shanks ME; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Clouston P; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Blumkin L; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Movement Disorders Service, Pediatric Neurology Unit, Edith Wolfson Medical Center, Holon, Israel., Lerman-Sagie T; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Magen Center for Rare Diseases-Metabolic, Neurogenetic, Wolfson Medical Center, Holon, Israel., Ponger P; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Raskin S; Genetika Centro de Aconselhamento e Laboratório, Curitiba, Brazil., Granath K; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland., Uusimaa J; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland., Conti H; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., McCann E; Liverpool Women's Hospital Foundation Trust, Liverpool, UK., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Kingston H; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Bertoli M; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, UK., Kneen R; Department of Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Martínez Albaladejo I; Neurology in Pediatrics, Hospital Santa Lucía, Murcia, Spain., Moore AP; The Walton Centre NHS Foundation Trust, Liverpool, UK., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street NHS Foundation Trust, London, UK., Becker EBE; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jan; Vol. 39 (1), pp. 141-151. Date of Electronic Publication: 2023 Nov 14.

A long hypoxia-inducible factor 3 isoform 2 is a transcription activator that regulates erythropoietin.

Autor: Tolonen JP; Oulu Center for Cell-Matrix Research, University of Oulu, PO Box 5400, 90014, Oulu, Finland.; Biocenter Oulu and Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014, Oulu, Finland., Heikkilä M; Oulu Center for Cell-Matrix Research, University of Oulu, PO Box 5400, 90014, Oulu, Finland.; Biocenter Oulu and Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014, Oulu, Finland., Malinen M; Department of Environmental and Biological Sciences, University of Eastern Finland, 80100, Joensuu, Finland., Lee HM; Biocenter Oulu and Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014, Oulu, Finland., Palvimo JJ; Institute of Biomedicine, University of Eastern Finland, 70211, Kuopio, Finland., Wei GH; Biocenter Oulu and Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014, Oulu, Finland., Myllyharju J; Oulu Center for Cell-Matrix Research, University of Oulu, PO Box 5400, 90014, Oulu, Finland. johanna.myllyharju@oulu.fi.; Biocenter Oulu and Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014, Oulu, Finland. johanna.myllyharju@oulu.fi.

Publikováno v: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2020 Sep; Vol. 77 (18), pp. 3627-3642. Date of Electronic Publication: 2019 Nov 25.

Use of psychiatric medications in schizophrenia and other psychoses in a general population sample.

Autor: Nykänen S; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Puska V; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Tolonen JP; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Salo H; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Isohanni M; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland; Department of Psychiatry, Oulu University Hospital, P.O. Box 26, FIN-90029, Oulu, Finland., Koponen H; University of Helsinki, Helsinki University Hospital, Psychiatry, Helsinki, Finland., Pirkola S; Department of Mental Health, Finnish National Institute for Health and Welfare (THL), Helsinki, Finland; School of Health Sciences FIN-33014, University of Tampere, Tampere, Finland., Penttilä M; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Haapea M; Department of Psychiatry, Oulu University Hospital, P.O. Box 26, FIN-90029, Oulu, Finland; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland; Center for Life Course Health Research, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Moilanen J; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland; Department of Psychiatry, Oulu University Hospital, P.O. Box 26, FIN-90029, Oulu, Finland; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Miettunen J; Research Unit of Clinical Neuroscience, Department of Psychiatry, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland; Center for Life Course Health Research, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland., Jääskeläinen E; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland; Center for Life Course Health Research, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland.

Publikováno v: Psychiatry research [Psychiatry Res] 2016 Jan 30; Vol. 235, pp. 160-8. Date of Electronic Publication: 2015 Nov 10.