المؤلفون: Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Bacci G; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Falsini B; Università Cattolica del Sacro Cuore, Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy., Iarossi G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy., Melillo P; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Mucciolo DP; Ophthalmology Unit, S. Jacopo Hospital, Pistoia, Italy.; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Murro V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.; Eye Clinic, Careggi Teaching Hospital, Florence, Italy., Salvetti AP; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, Milan, Italy. paola.anna.salvetti@gmail.com., Sodi A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Staurenghi G; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, Milan, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.

المصدر: Eye (London, England) [Eye (Lond)] 2024 Sep; Vol. 38 (13), pp. 2504-2515. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5454 (Electronic) Linking ISSN: 0950222X NLM ISO Abbreviation: Eye (Lond) Subsets: MEDLINE

مواضيع طبية MeSH: cis-trans-Isomerases*/genetics , Genetic Therapy*/methods , Retinal Dystrophies*/genetics , Retinal Dystrophies*/therapy , Mutation*, Humans ; Clinical Trials as Topic ; Leber Congenital Amaurosis/genetics ; Leber Congenital Amaurosis/therapy ; Leber Congenital Amaurosis/physiopathology ; Dependovirus/genetics ; Visual Acuity/physiology ; Genetic Vectors

المؤلفون: Giansanti F; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy., Nicolosi C; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy., Giorgio D; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy.; Azienda USL Toscana Nordovest, 56121 Pisa, Italy., Sodi A; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy., Mucciolo DP; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy., Pavese L; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy., Pollazzi L; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy., Virgili G; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy., Vicini G; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy.; Azienda USL Toscana Nordovest, 56121 Pisa, Italy., Passerini I; SODc Diagnostica Genetica, Careggi University Hospital, 50134 Florence, Italy., Pelo E; SODc Diagnostica Genetica, Careggi University Hospital, 50134 Florence, Italy., Murro V; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy.

المصدر: Genes [Genes (Basel)] 2024 Jul 04; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Perforations*/etiology , Retinal Perforations*/genetics , Retinal Perforations*/surgery , Retinal Detachment*/genetics , Retinal Detachment*/etiology , Retinal Detachment*/surgery , cis-trans-Isomerases*/genetics , Genetic Therapy* , Retinal Dystrophies*/genetics, Humans ; Male ; Aged ; Vitrectomy ; Visual Acuity ; Myopia/genetics

المؤلفون: Melillo P; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Di Iorio V; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy. Electronic address: valentina.diiorio@unicampania.it., Karali M; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Citro A; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Della Corte M; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Rossi S; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Banfi S; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.

المصدر: Ophthalmology. Retina [Ophthalmol Retina] 2024 Jul; Vol. 8 (7), pp. 688-698. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Published by Elsevier Inc. on behalf of American Academy of Ophthalmology Country of Publication: United States NLM ID: 101695048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-6530 (Electronic) Linking ISSN: 24686530 NLM ISO Abbreviation: Ophthalmol Retina Subsets: MEDLINE

مواضيع طبية MeSH: Visual Acuity*/physiology , Visual Fields*/physiology , cis-trans-Isomerases*/genetics , Retinal Dystrophies*/diagnosis , Retinal Dystrophies*/physiopathology , Retinal Dystrophies*/genetics , Retinal Dystrophies*/therapy, Humans ; Male ; Female ; Adolescent ; Retrospective Studies ; Child ; Adult ; Young Adult ; Follow-Up Studies ; Treatment Outcome ; Genetic Therapy/methods ; Visual Field Tests

المؤلفون: Maddileti S; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Mahato S; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, India., Agrawal T; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, India., Pravin Dave V; Srimati Kanuri Santhamma Centre for Vitreo Retinal Diseases, Anant Bajaj Retina Institute, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Naik M; Department of Ophthalmic Plastic Surgery & Facial Aesthetics, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Javed Ali M; Department of Ophthalmic Plastic Surgery & Facial Aesthetics, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Kannabiran C; Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, LV Prasad Eye Institute, Hyderabad, Telangana, India., Jalali S; Srimati Kanuri Santhamma Centre for Vitreo Retinal Diseases, Anant Bajaj Retina Institute, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Jayandharan GR; Laurus Center for Gene Therapy, Department of Biological Sciences and Bioengineering and Mehta Family Centre for Engineering in Medicine and Gangwal School of Medical Sciences and Technology, Indian Institute of Technology Kanpur, UP, India., Mariappan I; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India. Electronic address: indumathi@lvpei.org.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103413. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Leber Congenital Amaurosis*/genetics , Leber Congenital Amaurosis*/pathology , cis-trans-Isomerases*/genetics , cis-trans-Isomerases*/metabolism, Humans ; Mutation ; Cell Line ; Cell Differentiation ; Male ; Fibroblasts/metabolism ; Female

المؤلفون: Chen HH; College of Food Science and Bioengineering, South China University of Technology, Guangzhou 510640, China.; Department of Bioengineering, Imperial College London, London SW7 2AZ, United Kingdom., Pang XH; College of Food Science and Bioengineering, South China University of Technology, Guangzhou 510640, China., Dai JL; College of Food Science and Bioengineering, South China University of Technology, Guangzhou 510640, China., Jiang JG; College of Food Science and Bioengineering, South China University of Technology, Guangzhou 510640, China.

المصدر: Journal of agricultural and food chemistry [J Agric Food Chem] 2024 May 01; Vol. 72 (17), pp. 10005-10013. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 0374755 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-5118 (Electronic) Linking ISSN: 00218561 NLM ISO Abbreviation: J Agric Food Chem Subsets: MEDLINE

مواضيع طبية MeSH: Chlorophyceae*/enzymology , Chlorophyceae*/genetics , Chlorophyceae*/chemistry , Chlorophyceae*/metabolism , cis-trans-Isomerases*/genetics , cis-trans-Isomerases*/metabolism , cis-trans-Isomerases*/chemistry , Intramolecular Lyases* , Lycopene*/metabolism , Lycopene*/chemistry, Algal Proteins/genetics ; Algal Proteins/metabolism ; Algal Proteins/chemistry ; Amino Acid Sequence ; Carotenoids/metabolism ; Carotenoids/chemistry ; Chlorophyta/enzymology ; Chlorophyta/genetics ; Chlorophyta/chemistry ; Chlorophyta/metabolism ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Molecular Docking Simulation ; Sequence Alignment

المؤلفون: Ku CA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA., Igelman AD; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Huang SJ; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Bailey ST; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Lauer AK; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Duncan JL; Department of Ophthalmology, University of California San Francisco, San Francisco, CA, USA., Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.

المصدر: Translational vision science & technology [Transl Vis Sci Technol] 2024 Jun 03; Vol. 13 (6), pp. 11.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Association for Research in Vision and Ophthalmology Country of Publication: United States NLM ID: 101595919 Publication Model: Print Cited Medium: Internet ISSN: 2164-2591 (Electronic) Linking ISSN: 21642591 NLM ISO Abbreviation: Transl Vis Sci Technol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Vectors*/genetics , Genetic Therapy*/methods , Visual Acuity* , Tomography, Optical Coherence* , cis-trans-Isomerases*/genetics, Humans ; Retrospective Studies ; Male ; Female ; Child ; Dependovirus/genetics ; Atrophy ; Visual Fields

المؤلفون: Parameswarappa DC; Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India., Bagga DK; Meera and L B Deshpande Centre for Sight Enhancement, Institute for Vision Rehabilitation, L V Prasad Eye Institute, Hyderabad, India., Upadhyaya A; Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India., Balasubramanian J; Department of Clinical Genetics and Genetic Counseling, L V Prasad Eye Institute, Hyderabad, India., Pochaboina V; Department of Clinical Genetics and Genetic Counseling, L V Prasad Eye Institute, Hyderabad, India., Muthineni V; Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India., Jalali S; Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India., Kannabiran C; Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 303-312. Date of Electronic Publication: 2024 Feb 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: cis-trans-Isomerases*/genetics , Leber Congenital Amaurosis*/genetics , Leber Congenital Amaurosis*/diagnosis , Retinitis Pigmentosa*/genetics , Retinitis Pigmentosa*/diagnosis , Retinal Dystrophies*/genetics , Retinal Dystrophies*/diagnosis , Mutation*, Humans ; Male ; India/epidemiology ; Female ; Adult ; Child ; Tertiary Care Centers ; Child, Preschool ; Pedigree ; Adolescent ; Electroretinography ; Young Adult ; Visual Acuity/physiology ; DNA Mutational Analysis ; Infant ; Eye Diseases, Hereditary

SCR Disease Name: Retinal Dystrophy, Early Onset Severe

المؤلفون: Dong S; Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Provincial Ophthalmic Hospital, Zhengzhou, Henan 450000, China., Zhen F; Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Provincial Ophthalmic Hospital, Zhengzhou, Henan 450000, China., Zou T; The Key Laboratory for Human Disease Gene Study of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China., Zhou Y; Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Provincial Ophthalmic Hospital, Zhengzhou, Henan 450000, China., Wu J; Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Provincial Ophthalmic Hospital, Zhengzhou, Henan 450000, China., Wang T; The Key Laboratory for Human Disease Gene Study of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China., Zhang H; The Key Laboratory for Human Disease Gene Study of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China.

المصدر: Current medicinal chemistry [Curr Med Chem] 2024; Vol. 31 (25), pp. 4022-4033.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Bentham Science Publishers Country of Publication: United Arab Emirates NLM ID: 9440157 Publication Model: Print Cited Medium: Internet ISSN: 1875-533X (Electronic) Linking ISSN: 09298673 NLM ISO Abbreviation: Curr Med Chem Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia Inhibitory Factor*/metabolism , cis-trans-Isomerases*/metabolism , cis-trans-Isomerases*/deficiency , cis-trans-Isomerases*/genetics , Retinal Cone Photoreceptor Cells*/metabolism , Retinal Cone Photoreceptor Cells*/pathology , Retinal Cone Photoreceptor Cells*/drug effects, Animals ; Mice ; Apoptosis/drug effects ; STAT3 Transcription Factor/metabolism ; Retinal Degeneration/metabolism ; Retinal Degeneration/pathology ; Retinal Degeneration/drug therapy ; Humans ; Mice, Inbred C57BL ; Signal Transduction/drug effects

المؤلفون: Jung R; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str.7, Tübingen, Germany. ronja.jung@med.uni-tuebingen.de., Kempf M; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str.7, Tübingen, Germany.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany., Holocher S; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str.7, Tübingen, Germany., Kortüm FC; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str.7, Tübingen, Germany., Stingl K; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str.7, Tübingen, Germany.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany., Stingl K; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str.7, Tübingen, Germany. Katarina.Stingl@med.uni-tuebingen.de.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany. Katarina.Stingl@med.uni-tuebingen.de.

المصدر: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Feb; Vol. 262 (2), pp. 601-607. Date of Electronic Publication: 2023 Sep 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-702X (Electronic) Linking ISSN: 0721832X NLM ISO Abbreviation: Graefes Arch Clin Exp Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: cis-trans-Isomerases*/genetics , Leber Congenital Amaurosis*/diagnosis , Leber Congenital Amaurosis*/genetics , Leber Congenital Amaurosis*/therapy, Humans ; Vision, Ocular ; Retina ; Visual Acuity ; Genetic Therapy/methods ; Mutation

المؤلفون: Poli G; Department of Pharmacy, University of Pisa, Pisa, Italy., Demontis GC; Department of Pharmacy, University of Pisa, Pisa, Italy., Sodi A; Department of Neurosciences, Psychology, Drug Research and Child Health Eye Clinic, University of Florence, AOU Careggi, Florence, Italy., Saba A; Department of Surgical Pathology, Molecular Medicine and of the Critical Area, University of Pisa, Pisa, Italy., Rizzo S; Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Catholic University Sacro Cuore, Rome, Italy.; Consiglio Nazionale delle Ricerche, Istituto di Neuroscienze, Pisa, Italy., Macchia M; Department of Pharmacy, University of Pisa, Pisa, Italy., Tuccinardi T; Department of Pharmacy, University of Pisa, Pisa, Italy.

المصدر: Journal of enzyme inhibition and medicinal chemistry [J Enzyme Inhib Med Chem] 2023 Dec; Vol. 38 (1), pp. 2162047.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101150203 Publication Model: Print Cited Medium: Internet ISSN: 1475-6374 (Electronic) Linking ISSN: 14756366 NLM ISO Abbreviation: J Enzyme Inhib Med Chem Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , cis-trans-Isomerases*/genetics, Humans ; Computational Biology