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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Autor: Ram L. Kumar, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Pierre-Yves Jeannet, John B.P. Stephenson, Gillian I. Rice, Joel Victor Fluss, James O'Sullivan, Raphael Schiffmann, Johannes A. Buckard, Andrea Whitney, Riyana Babul-Hirji, Catheline Vilain, Beverley Anderson, Yanick J. Crow, Emma M. Jenkinson, Gunnar Houge, Ewan Forrest, Vanessa Wermenbol, Peter Baxter, Sarah B. Daly, Marcin Szynkiewicz, Joanne Muter, Rosalind J. Jefferson, Wui K. Chong, Elisabeth Oppliger Leibundgut, Gabriela M. Baerlocher, Stefan Meyer, Jonathan E. Dickerson, Ramesh Mehta, Emma Wakeling, Sarah Risen, José Pedro Vieira, Sakkubai Naidu, Andrea Berger, Calvin Soh, John H. Livingston, David Chitayat, Staffan Lundberg, Simon C. Lovell, Luís Catela Nunes, Helen Stewart, Graeme C.M. Black, John Tolmie, Janice E Brunstom-Hernandez, Jill E. Urquhart, Josephine Mayer, Ghada M H Abdel-Salem, Paul R. Kasher, Charles Marques Lourenço, Simon Hammans, Emilio Franzoni, Caterina Garone, Katrin Õunap, Duccio Maria Cordelli, Prab Prabhakar, Ken K. Nischal, Luisa Bonafé, Michel Philippart, Sébastien Jacquemont, Patrick Ferreira, Imelda Hughes, Jon Stone, Georg Kutschke
Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Genetics, Vol. 44, No 3 (2012) pp. 338-42
Anderson, B H, Kasher, P R, Mayer, J, Szynkiewicz, M, Jenkinson, E M, Bhaskar, S S, Urquhart, J E, Daly, S B, Dickerson, J E, O'Sullivan, J, Leibundgut, E O, Muter, J, Abdel-Salem, G M H, Babul-Hirji, R, Baxter, P, Berger, A, Bonafe, L, Brunstom-Hernandez, J E, Buckard, J A, Chitayat, D, Chong, W K, Cordelli, D M, Ferreira, P, Fluss, J, Forrest, E H, Franzoni, E, Garone, C, Hammans, S R, Houge, G, Hughes, I, Jacquemont, S, Jeannet, P Y, Jefferson, R J, Kumar, R, Kutschke, G, Lundberg, S, Lourenco, C M, Mehta, R, Naidu, S, Nischal, K K, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, S R, Schiffmann, R, Soh, C, Stephenson, J B P, Stewart, H, Stone, J, Tolmie, J L, van der Knaap, M S, Vieira, J P, Vilain, C N, Wakeling, E L, Wermenbol, V, Whitney, A, Lovell, S C, Meyer, S, Livingston, J H, Baerlocher, G M, Black, G C M, Rice, G I & Crow, Y J 2012, ' Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus ', Nature Genetics, vol. 44, no. 3, pp. 338-U1604 . https://doi.org/10.1038/ng.1084
Nature Genetics, 44(3), 338-U1604. Nature Publishing Group
Nature genetics, 44(3), 338-342. Nature Publishing Group
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mam
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ec98cf3e088c4ccfd4d170009ff51a
https://hdl.handle.net/1871/42513
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8
Akademický článek
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Autor: Sharkia R; The Triangle Regional Research and Development Center, Kfar Qari', Israel.; Beit-Berl Academic College, Beit-Berl, Israel., Shalev SA; Genetic Institute, Emek Medical Center, Afula, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Zalan A; The Triangle Regional Research and Development Center, Kfar Qari', Israel., Marom-David M; Faculty of Life Sciences, Department of Biochemistry and Molecular Biology, Tel-Aviv University, Tel-Aviv, Israel., Watemberg N; Sakler Faculty of Medicine, Child neurology Unit Mier Medical Cener, Tel-Aviv University, Tel-Aviv, Israel., Urquhart JE; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St. Mary's Hospital, Manchester, UK.; Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK., Daly SB; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St. Mary's Hospital, Manchester, UK.; Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK., Bhaskar SS; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St. Mary's Hospital, Manchester, UK., Williams SG; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St. Mary's Hospital, Manchester, UK.; Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK., Newman WG; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St. Mary's Hospital, Manchester, UK.; Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK., Spiegel R; Genetic Institute, Emek Medical Center, Afula, Israel., Azem A; Faculty of Life Sciences, Department of Biochemistry and Molecular Biology, Tel-Aviv University, Tel-Aviv, Israel., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Mahajnah M; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Child Neurology and Development Center, Hillel-Yaffe Medical Center, Hadera, Israel.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Apr; Vol. 173 (4), pp. 1051-1055.
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9
Akademický článek
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
Autor: Banka S; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Cain SA; Faculty of Life Sciences, Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK., Carim S; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Daly SB; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Urquhart JE; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Erdem G; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Department of Environmental Health and Biosafety, Health College, Çanakkale Onsekiz Mart University, Çanakkale, Turkey., Harris J; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Bottomley M; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Donnai D; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Kerr B; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Kingston H; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Superti-Furga A; Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Unger S; Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Ennis H; Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, University of Manchester, MAHSC, Manchester, UK., Worthington J; Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, University of Manchester, MAHSC, Manchester, UK NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK., Herrick AL; NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK., Merry CL; Stem Cell Glycobiology Group, School of Materials, University of Manchester, Manchester, UK., Yue WW; Structural Genomics Consortium, University of Oxford, Oxford, UK., Kielty CM; Faculty of Life Sciences, Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK., Newman WG; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK.
Publikováno v: Annals of the rheumatic diseases [Ann Rheum Dis] 2015 Jun; Vol. 74 (6), pp. 1249-56. Date of Electronic Publication: 2014 Jan 17.
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10
Akademický článek
Urinary tract effects of HPSE2 mutations.
Autor: Stuart HM; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Roberts NA; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Hilton EN; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, McKenzie EA; Faculty of Life Sciences and., Daly SB; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Hadfield KD; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Rahal JS; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Gardiner NJ; Faculty of Life Sciences and., Tanley SW; Faculty of Engineering and Physical Sciences, University of Manchester, Manchester, United Kingdom;, Lewis MA; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Sites E; Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois;, Angle B; Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois;, Alves C; Genetica Med. e Diagnostico Pre-Natal, Prof. Sergio Castedo, S.A., Porto, Portugal;, Lourenço T; Department of Medical Genetics, Hospital de Dona Estefânia, Lisboa, Portugal;, Rodrigues M; Department of Medical Genetics, Hospital de Dona Estefânia, Lisboa, Portugal;, Calado A; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Amado M; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Guerreiro N; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Serras I; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Beetz C; Faculty of Life Sciences and Faculty of Life Sciences and., Varga RE; Faculty of Life Sciences and Faculty of Life Sciences and., Silay MS; Department of Urology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey;, Darlow JM; National Centre for Medical Genetics and National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Dobson MG; National Centre for Medical Genetics and National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Barton DE; National Centre for Medical Genetics and School of Medicine and Medical Sciences and., Hunziker M; National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Puri P; National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland; School of Medicine and Medical Sciences and Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland;, Feather SA; Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom;, Goodship JA; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Goodship TH; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Lambert HJ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Cordell HJ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Saggar A; Department of Clinical Genetics, St George's, University of London, London, United Kingdom;, Kinali M; Department of Paediatric Neurology, Chelsea and Westminster Hospital and Imperial College London, and Bupa Cromwell Hospital, London, United Kingdom;, Lorenz C; Department of Pediatric Surgery and Urology, Klinikum Bremen-Mitte, Bremen, Germany;, Moeller K; Department of Pediatrics, Klinikum Links der Weser, Bremen, Germany;, Schaefer F; Division of Paediatric Nephrology, Centre for Paediatric and Adolescent Medicine, University Hospital of Heidelberg, Im Neuenheimer Feld, Heidelberg, Germany;, Bayazit AK; Pediatric Nephrology, Cukurova University School of Medicine, Adana, Turkey; and., Weber S; Pediatrics II, University Children's Hospital Essen, Essen, Germany., Newman WG; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Woolf AS; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom; adrian.woolf@manchester.ac.uk.
Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2015 Apr; Vol. 26 (4), pp. 797-804. Date of Electronic Publication: 2014 Aug 21.
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