Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Autor: Francis L. Munier, Georgia G. Yioti, Carel B. Hoyng, Pietro Farinelli, Sara Balzano, Jamie M Ellingford, Viet H. Tran, Olivier Bonny, Christos Ikonomidis, Sten Andréasson, Veronika Vaclavik, Chris F. Inglehearn, Nicola Bedoni, Lonneke Haer-Wigman, Daniel F. Schorderet, Maria Stefaniotou, Fabien Murisier, Adam P. Booth, Mohammed E El-Asrag, Carlo Rivolta, Konstantinos Nikopoulos, Nathalie M. Bax, Yan Litzistorf, Frans P.M. Cremers, Carmel Toomes, Beryl Royer-Bertrand, Graeme C.M. Black, Caroline C W Klaver, Martin McKibbin, Manir Ali, Alberta A H J Thiadens

Publikováno v: Human Molecular Genetics, 25, 4546-4555
Scopus-Elsevier
Human Molecular Genetics, 25(20), 4546-4555. Oxford University Press
Human molecular genetics, vol. 25, no. 20, pp. 4546-4555
Human Molecular Genetics, 25, 20, pp. 4546-4555

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86735e0d0550260dadf7eb91ef7e54b7

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

Autor: Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, UK. n.jurkute@nhs.net.; Institute of Ophthalmology, University College London, London, UK. n.jurkute@nhs.net., Cancellieri F; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Pohl L; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany., Li CHZ; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Heaton RA; School of Pharmacy and Biomolecular Sciences, Liverpool John Moores, Liverpool, UK., Reurink J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bellingham J; Institute of Ophthalmology, University College London, London, UK., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Yioti G; University of Ioannina Medical School, Ioannina, Greece., Stefaniotou M; University of Ioannina Medical School, Ioannina, Greece., Weener M; Oftalmic Clinical Research Organization, Moscow, Russia., Zuleger T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Stingl K; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Hoyng CB; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Mahroo OA; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Hargreaves I; School of Pharmacy and Biomolecular Sciences, Liverpool John Moores, Liverpool, UK., Raymond FL; NIHR BioResource-Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Michaelides M; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Roosing S; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Arno G; Moorfields Eye Hospital NHS Foundation Trust, London, UK. g.arno@ucl.ac.uk.; Institute of Ophthalmology, University College London, London, UK. g.arno@ucl.ac.uk.; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UK. g.arno@ucl.ac.uk.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2022 Oct 20; Vol. 7 (1), pp. 60. Date of Electronic Publication: 2022 Oct 20.