The GTPase RAB6 is required for stem cell maintenance and cell migration in the gut epithelium.

Autor: Simonin, Pierre, Lobo Guerrero, Gehenna, Bardin, Sabine, Gannavarapu, Ram Venkata, Krndija, Denis, Boyd, Joseph, Miserey, Stephanie, Vignjevic, Danijela Matic, Goud, Bruno

Publikováno v: Development (09501991); Nov2024, Vol. 151 Issue 21, p1-11, 11p

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Autor: Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Nassisi M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Laurent-Coriat C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France., Andrieu C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France., Boyard F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Démontant V; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Lancelot ME; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Frederiksen H; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Kloeckener-Gruissem B; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.; Department of Biology, ETH Zurich, Zurich, Switzerland., El-Shamieh S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon., Zanlonghi X; Clinique Pluridisciplinaire Jules Verne, Institut Ophtalmologique de l'Ouest, Nantes, France., Meunier I; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France., Roux AF; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France., Mohand-Saïd S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France., Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.; Académie des Sciences-Institut de France, Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.; Department of Genetics, UCL-Institute of Ophthalmology, London, UK.

Publikováno v: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 323-341. Date of Electronic Publication: 2021 Feb 19.

Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Autor: Keegan, Niall P., Wilton, Steve D., Fletcher, Sue

Publikováno v: Frontiers in Genetics; 1/24/2022, Vol. 13, p1-26, 26p

Humoral immune responses to AAV gene therapy in the ocular compartment.

Autor: Whitehead, Michael, Osborne, Andrew, Yu‐Wai‐Man, Patrick, Martin, Keith

Publikováno v: Biological Reviews; Aug2021, Vol. 96 Issue 4, p1616-1644, 29p

Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells.

Autor: Gerdes P; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia., Lim SM; Department of Anatomy & Developmental Biology, Monash University, Melbourne, VIC, 3800, Australia.; Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Melbourne, VIC, 3800, Australia.; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC, 3800, Australia., Ewing AD; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia., Larcombe MR; Department of Anatomy & Developmental Biology, Monash University, Melbourne, VIC, 3800, Australia.; Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Melbourne, VIC, 3800, Australia.; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC, 3800, Australia., Chan D; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia., Sanchez-Luque FJ; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia.; GENYO. Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research, PTS, Granada, 18016, Spain., Walker L; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia., Carleton AL; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia., James C; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia., Knaupp AS; Department of Anatomy & Developmental Biology, Monash University, Melbourne, VIC, 3800, Australia.; Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Melbourne, VIC, 3800, Australia.; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC, 3800, Australia., Carreira PE; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia., Nefzger CM; Department of Anatomy & Developmental Biology, Monash University, Melbourne, VIC, 3800, Australia.; Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Melbourne, VIC, 3800, Australia.; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC, 3800, Australia., Lister R; Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, The University of Western Australia, Perth, WA, 6009, Australia.; Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia., Richardson SR; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia. sandra.richardson@mater.uq.edu.au., Polo JM; Department of Anatomy & Developmental Biology, Monash University, Melbourne, VIC, 3800, Australia. jose.polo@monash.edu.; Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Melbourne, VIC, 3800, Australia. jose.polo@monash.edu.; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC, 3800, Australia. jose.polo@monash.edu.; Adelaide Centre for Epigenetics and The South Australian Immunogenomics Cancer Institute, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia. jose.polo@monash.edu., Faulkner GJ; Mater Research Institute - University of Queensland, TRI Building, Woolloongabba, QLD, 4102, Australia. faulknergj@gmail.com.; Queensland Brain Institute, University of Queensland, Brisbane, QLD, 4072, Australia. faulknergj@gmail.com.

Publikováno v: Nature communications [Nat Commun] 2022 Dec 03; Vol. 13 (1), pp. 7470. Date of Electronic Publication: 2022 Dec 03.