OPA1

516 unique variants and 831 patients registered in an updated centralized Variome database | OPA1 (optic atrophy 1 (autosomal dominant)) | Autosomal dominant optic atrophy (DOA, Kjer type, MIM#165500) is characterized by moderate to severe loss of visual acuity with insidious onset in early childhood, blue-yellow dyschromatopsia and central scotoma

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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
PMID: 31500643

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:14.398681

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• OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database PubMed citations: 16.

  16 articles citing: OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

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  First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant. PMID:35328032

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  Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults. PMID:35273349

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  OPA1 Modulates Mitochondrial Ca2+ Uptake Through ER-Mitochondria Coupling. PMID:35047497

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  Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan. PMID:34573359

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  Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms. PMID:34559197

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  ACO2 clinicobiological dataset with extensive phenotype ontology annotation. PMID:34354088

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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. PMID:34242285

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  Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants. PMID:33884488

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  Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy. PMID:33841295

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  Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. PMID:33737949

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  The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases. PMID:33672627

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  Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy. PMID:33632269

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  Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches. PMID:33477675

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  First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report. PMID:33243194

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  Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. PMID:32548275

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  Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity. PMID:32202296

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neurology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:14.398681

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genotype and phenotype

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:14.398681

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gene transcripts

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:14.398681

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neurology genotype and phenotype gene transcripts