Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Autor: Ramsbottom SA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom., Thelwall PE; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom.; Newcastle Magnetic Resonance Centre, Newcastle University, Newcastle upon Tyne NE4 5PL, United Kingdom., Wood KM; The Histopathology Department, The Newcastle upon Tyne Hospitals National Health Service (NHS) Foundation Trust, Newcastle upon Tyne NE7 7DN, United Kingdom., Clowry GJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom., Devlin LA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom., Silbermann F; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, 75015 Paris, France., Spiewak HL; Northern Genetics Service, International Centre for Life, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, United Kingdom., Shril S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Molinari E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom., Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287., Saunier S; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, 75015 Paris, France., Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom; john.sayer@ncl.ac.uk colin.miles@ncl.ac.uk.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne NE4 5PL, United Kingdom., Miles CG; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom; john.sayer@ncl.ac.uk colin.miles@ncl.ac.uk.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Jan 14; Vol. 117 (2), pp. 1113-1118. Date of Electronic Publication: 2019 Dec 26.

Structural insights into the function of type VI secretion system TssA subunits.

Autor: Dix SR; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK., Owen HJ; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK., Sun R; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK., Ahmad A; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK., Shastri S; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK., Spiewak HL; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK.; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK., Mosby DJ; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK., Harris MJ; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK.; Department of Chemistry, King's College London, Britannia House, London, SE1 1DB, UK., Batters SL; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK., Brooker TA; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK., Tzokov SB; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK., Sedelnikova SE; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK., Baker PJ; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK., Bullough PA; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK., Rice DW; Department of Molecular Biology and Biotechnology, Krebs Institute, University of Sheffield, Sheffield, S10 2TN, UK. d.rice@sheffield.ac.uk., Thomas MS; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK. m.s.thomas@sheffield.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2018 Nov 12; Vol. 9 (1), pp. 4765. Date of Electronic Publication: 2018 Nov 12.