Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.

Autor: Iglesias-Romero AB; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland., Kaminska K; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland., Quinodoz M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK., Folcher M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland., Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Greenwood Genetic Center, Greenwood, SC 29646, USA., Calado J; ToxOmics, NOVA Medical School, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Moulin A; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004 Lausanne, Switzerland., Sousa AB; Department of Medical Genetics, Centro Hospitalar Universitario Lisboa Norte EPE, 1649-028 Lisboa, Portugal; Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal., Coutinho-Santos L; Instituto de Oftalmologia Dr. Gama Pinto, 1150-255 Lisboa, Portugal., Santos C; Instituto de Oftalmologia Dr. Gama Pinto, 1150-255 Lisboa, Portugal; iNOVA4Health, Universidade NOVA de Lisboa NOVA Medical School, 1150-082 Lisboa, Portugal., Rivolta C; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK. Electronic address: carlo.rivolta@iob.ch.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Oct 03; Vol. 111 (10), pp. 2299-2306. Date of Electronic Publication: 2024 Sep 02.

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.

Autor: Ullah M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Rehman AU; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University Mansehra, Mansehra, Pakistan., Folcher M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Ullah A; Department of Zoology, Islamia College Peshawar, Peshawar, Pakistan., Usman F; Department of Biotechnology and Genetic Engineering, Faculty of Biological and Health Sciences, Hazara University Mansehra, Mansehra, Pakistan., Rashid A; Department of Higher Education, Archives and Libraries Peshawar, Peshawar, Pakistan., Khan B; Medical Teaching Institution Khyber Teaching Hospital Peshawar, Peshawar, Pakistan., 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., Ansar M; Department of Ophthalmology, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, University of Lausanne, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan., 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.

Publikováno v: Ophthalmic research [Ophthalmic Res] 2023; Vol. 66 (1), pp. 878-884. Date of Electronic Publication: 2023 Apr 24.

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.

Autor: Han JH; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland., Ryan G; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK., Guy A; Viapath, St Thomas' Hospital, London SE1 7EH, UK., Liu L; Viapath, St Thomas' Hospital, London SE1 7EH, UK., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK., Helbling I; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK., Lai-Cheong JE; Frimley Park NHS Foundation Trust, Camberley GU16 7UJ, UK., Barwell J; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK., Folcher M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland., McGrath JA; NIHR Biomedical Research Centre, Guy's and St Thomas' NHS Foundation Trust and King's College London, London SE1 9RT, UK.; St John's Institute of Dermatology, King's College London (Guy's campus), London SE1 9RT, UK., Moss C; Department of Paediatric Dermatology, Birmingham Women's and Children's Hospital NHS FT, Birmingham B4 6NH, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2022 Jun 22; Vol. 31 (12), pp. 1970-1978.

Optimized Protocol for Subcutaneous Implantation of Encapsulated Cells Device and Evaluation of Biocompatibility.

Autor: Audouard E; NeuroGenCell, Inserm U 1127, CNRS UMR 7225, ICM, Institut du Cerveau et de la Moelle Épinière, Sorbonne Université, Paris, France., Rousselot L; NeuroGenCell, Inserm U 1127, CNRS UMR 7225, ICM, Institut du Cerveau et de la Moelle Épinière, Sorbonne Université, Paris, France., Folcher M; Department of Biosystems Science and Engineering (D-BSSE), ETH Zürich, Basel, Switzerland.; Institute of Molecular and Clinical Ophthalmology (IOB), Basel, Switzerland., Cartier N; NeuroGenCell, Inserm U 1127, CNRS UMR 7225, ICM, Institut du Cerveau et de la Moelle Épinière, Sorbonne Université, Paris, France., Piguet F; NeuroGenCell, Inserm U 1127, CNRS UMR 7225, ICM, Institut du Cerveau et de la Moelle Épinière, Sorbonne Université, Paris, France.

Publikováno v: Frontiers in bioengineering and biotechnology [Front Bioeng Biotechnol] 2021 Jun 24; Vol. 9, pp. 620967. Date of Electronic Publication: 2021 Jun 24 (Print Publication: 2021).

Genomic and transcriptomic landscape of conjunctival melanoma.

Autor: Cisarova K; Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom., Folcher M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., El Zaoui I; Department of Computational Biology, University of Lausanne, Lausanne, Switzerland., Pescini-Gobert R; Department of Computational Biology, University of Lausanne, Lausanne, Switzerland., Peter VG; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Royer-Bertrand B; Department of Computational Biology, University of Lausanne, Lausanne, Switzerland., Zografos L; Jules-Gonin Eye Hospital, Department of Ophthalmology, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland., Schalenbourg A; Jules-Gonin Eye Hospital, Department of Ophthalmology, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland., Nicolas M; Jules-Gonin Eye Hospital, Department of Ophthalmology, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland., Rimoldi D; Ludwig Cancer Research, Department of Oncology, University of Lausanne, Lausanne, Switzerland., Leyvraz S; Charité Comprehensive Cancer Center, Berlin, Germany., Riggi N; Experimental Pathology, Institute of Pathology, Lausanne University Hospital, Lausanne, Switzerland., Moulin AP; Jules-Gonin Eye Hospital, Department of Ophthalmology, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland., Rivolta C; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.

Publikováno v: PLoS genetics [PLoS Genet] 2020 Dec 31; Vol. 16 (12), pp. e1009201. Date of Electronic Publication: 2020 Dec 31 (Print Publication: 2020).