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Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

• Authors : García-López M; Grupo de Investigación Traslacional con Células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.; Jiménez-Vicente L

Subjects: Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/genetics ; Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/pathology ; Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/metabolism

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 30; Vol. 25 (13). Date of Electronic Publication: 2024 Jun 30.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing.

• Authors : Jun JW; Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Seo Y

Subjects: Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/diagnosis ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/genetics ; Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/pathology

• Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Jun; Vol. 44 (3), pp. 286-290. Date of Electronic Publication: 2022 Aug 10.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation

• Source: A Natural History Study in Patients with Genetically Confirmed Diagnosis of Autosomal Dominant Optic

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Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy.

• Authors : Eckmann-Hansen C; Department of Ophthalmology, Rigshospitalet, Glostrup, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Subjects: Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/diagnosis ; Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/genetics; Adult

• Source: Acta ophthalmologica [Acta Ophthalmol] 2022 Nov; Vol. 100 (7), pp. 797-804. Date of Electronic Publication: 2022 Feb 10.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew)

• Source: A Phase 1a Open-Label, Single Ascending Dose Study to Evaluate the Safety and Tolerability of Intravitreally Administered PYC-001 in Participants With Confirmed OPA1 Mutation-Associated

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Optical coherence tomography angiography in the multimodal assessment of the retinal posterior pole in autosomal dominant optic atrophy.

• Authors : Cesareo M; Ophthalmology Unit, Department of Experimental Medicine, University of Rome Tor Vergata, Rome, Italy.; Giannini C

Subjects: Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/diagnosis ; Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/genetics; Angiography

• Source: Acta ophthalmologica [Acta Ophthalmol] 2022 May; Vol. 100 (3), pp. e798-e806. Date of Electronic Publication: 2021 Jul 11.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

• Authors : Xu X; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.; Wang P

Subjects: GTP Phosphohydrolases/GTP Phosphohydrolases/GTP Phosphohydrolases/*genetics ; Optic Atrophy, Autosomal Dominant/Optic Atrophy, Autosomal Dominant/Optic Atrophy, Autosomal Dominant/*genetics ; Optic Atrophy, Autosomal Dominant/Optic Atrophy, Autosomal Dominant/Optic Atrophy, Autosomal Dominant/*pathology

• Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2021 Jul; Vol. 296 (4), pp. 845-862. Date of Electronic Publication: 2021 Apr 21.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

• Authors : National Ataxia Foundation; International WAGR Syndrome Association; 4p- Support Group

• Source: Coordination of Rare Diseases at Sanford

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Red Light Irradiation In Vivo Upregulates DJ-1 in the Retinal Ganglion Cell Layer and Protects against Axotomy-Related Dendritic Pruning.

• Authors : Beirne K; School of Optometry and Vision Sciences, Cardiff University, Cardiff CF24 4HQ, UK.; Cardiff Institute for Tissue Engineering and Repair, Cardiff University, Cardiff CF10 3NB, UK.

Subjects: Phototherapy*; Optic Atrophy, Autosomal Dominant/Optic Atrophy, Autosomal Dominant/Optic Atrophy, Autosomal Dominant/*therapy ; Protein Deglycase DJ-1/Protein Deglycase DJ-1/Protein Deglycase DJ-1/*analysis

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Aug 04; Vol. 22 (16). Date of Electronic Publication: 2021 Aug 04.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

• Authors : Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Schimpf-Linzenbold S

Subjects: Genetic Predisposition to Disease*; GTP Phosphohydrolases/GTP Phosphohydrolases/GTP Phosphohydrolases/*genetics ; Mutation/Mutation/Mutation/*genetics

• Source: PloS one [PLoS One] 2021 Jul 09; Vol. 16 (7), pp. e0253987. Date of Electronic Publication: 2021 Jul 09 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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