Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Autor: Namavar, Y, Barth, Pg, Kasher, Pr, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, Ey, Ferriero, Dm, Basel-Vanagaite, L, Eggens, Vr, Krägeloh-Mann, I, De Meirleir, L, King, M, Graham JM Jr, von Moers, A, Knoers, N, Sztriha, L, Korinthenberg, R, Dobyns, Wb, Baas, F, Poll-The, Bt, Pch, Consortium, Battini, R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3728::bf9aa549b03beb4bcf5ee7a932de398a
http://hdl.handle.net/11568/951234

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

Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.

Autor: Mehmood H; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, Faculty of Health and Lifesciences, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK.; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Oxford Road, Manchester, M13 9PT, UK., Kasher PR; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Oxford Road, Manchester, M13 9PT, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Allianceand the, University of Manchester , Manchester, M6 8HD, UK., Barrett-Jolley R; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, Faculty of Health and Lifesciences, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK., Walmsley GL; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, Faculty of Health and Lifesciences, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK. glw22@liverpool.ac.uk.; Department of Small Animal Clinical Sciences, Institute of Infection, Veterinary and Ecological Sciences, University of Liverpool, Leahurst Campus, South Wirral, Neston, CH64 7TE, UK. glw22@liverpool.ac.uk.

Publikováno v: BMC veterinary research [BMC Vet Res] 2024 Oct 18; Vol. 20 (1), pp. 477. Date of Electronic Publication: 2024 Oct 18.

FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms.

Autor: Monaghan RM; Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, University of Manchester, 5th Floor, AV Hill Building, Oxford Road, Manchester, M13 9NT, UK., Naylor RW; Wellcome Centre for Cell Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, University of Manchester, Oxford Road, Manchester, M13 9PN, UK., Flatman D; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust, University of Manchester, Oxford Road, Manchester, M13 9PT, UK., Kasher PR; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust, University of Manchester, Oxford Road, Manchester, M13 9PT, UK., Williams SG; Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, University of Manchester, 5th Floor, AV Hill Building, Oxford Road, Manchester, M13 9NT, UK., Keavney BD; Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, University of Manchester, 5th Floor, AV Hill Building, Oxford Road, Manchester, M13 9NT, UK.; Manchester Heart Institute, Manchester University NHS Foundation Trust, Oxford Road, M13 9WL, UK.

Publikováno v: Cardiovascular research [Cardiovasc Res] 2024 Sep 02; Vol. 120 (10), pp. 1164-1176.

Brazilin is a natural product inhibitor of the NLRP3 inflammasome.

Autor: McMahon E; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance and the University of Manchester, Manchester M6 8HD, UK., El-Sayed S; Division of Pharmacy and Optometry, School of Health Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road M13 9PT, UK.; Department of Medicinal Chemistry, Faculty of Pharmacy, Zagazig University, Zagazig 44519, Egypt., Green J; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance and the University of Manchester, Manchester M6 8HD, UK., Hoyle C; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance and the University of Manchester, Manchester M6 8HD, UK., FitzPatrick L; Medicines Discovery Catapult, Alderley Park, Macclesfield SK10 4ZF, UK., Jones EV; Medicines Discovery Catapult, Alderley Park, Macclesfield SK10 4ZF, UK., Corrie E; Medicines Discovery Catapult, Alderley Park, Macclesfield SK10 4ZF, UK., Kelly RL; Medicines Discovery Catapult, Alderley Park, Macclesfield SK10 4ZF, UK., Challinor M; Medicines Discovery Catapult, Alderley Park, Macclesfield SK10 4ZF, UK., Freeman S; Division of Pharmacy and Optometry, School of Health Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road M13 9PT, UK., Bryce RA; Division of Pharmacy and Optometry, School of Health Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road M13 9PT, UK., Lawrence CB; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance and the University of Manchester, Manchester M6 8HD, UK., Brough D; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance and the University of Manchester, Manchester M6 8HD, UK., Kasher PR; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance and the University of Manchester, Manchester M6 8HD, UK.

Publikováno v: IScience [iScience] 2024 Jan 19; Vol. 27 (2), pp. 108968. Date of Electronic Publication: 2024 Jan 19 (Print Publication: 2024).