Associated Papers
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs MJN et al.
Acta Ophthalmologica, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM et al.
Journal of Inherited Metabolic Disease, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.
Díazceballos-García AL et al.
International Ophthalmology, 2024
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.
da Palma MM et al.
Ophthalmic Genetics, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy.
Ozcaliskan S et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.
Sen S et al.
Ophthalmic Genetics, 2021
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.
Montioli R et al.
Frontiers in Molecular Biosciences, 2021
Patient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies.
Foltz LP et al.
Progress in Retinal and Eye Research, 2019
Treatment Paradigms for Retinal and Macular Diseases Using 3-D Retina Cultures Derived From Human Reporter Pluripotent Stem Cell Lines.
Kaewkhaw R et al.
Investigative Ophthalmology & Visual Science, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Using Stem Cells to Model Diseases of the Outer Retina.
Yvon C et al.
Computational and Structural Biotechnology Journal, 2015
iPS Cells for Modelling and Treatment of Retinal Diseases.
Chen FK et al.
Journal of Clinical Medicine, 2014
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Doimo M et al.
Human Mutation, 2013
Influence of methylenetetrahydrofolate reductase C677T gene polymorphisms in Algerian infertile men with azoospermia or severe oligozoospermia.
Chellat D et al.
Genetic Testing and Molecular Biomarkers, 2012
Optic vesicle-like structures derived from human pluripotent stem cells facilitate a customized approach to retinal disease treatment.
Meyer JS et al.
Stem Cells (dayton, Ohio), 2011
Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy.
Howden SE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Ohkubo Y et al.
The Tohoku Journal of Experimental Medicine, 2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Cleary MA et al.
Journal of Inherited Metabolic Disease, 2005
Folate status and homocysteine level in Italian patients aged under 60 on oral anticoagulant therapy.
Cafolla A et al.
Annals of Medicine, 2003
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
Mashima YG et al.
Ophthalmic Genetics, 1999
Crystal structure of human recombinant ornithine aminotransferase.
Shen BW et al.
Journal of Molecular Biology, 1998
Gyrate atrophy-like phenotype with normal plasma ornithine.
Kellner U et al.
Retina (philadelphia, Pa.), 1997
Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.
Mashima Y et al.
Current Eye Research, 1996
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
Michaud J et al.
American Journal of Human Genetics, 1995
Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.
Park JK et al.
Genomics, 1992
B6-responsive disorders: a model of vitamin dependency.
Clayton PT
Journal of Inherited Metabolic Disease, 0
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.
Srikanth P et al.
Journal of Neurogenetics, 0
Induced pluripotent stem cells and derivative photoreceptor precursors as therapeutic cells for retinal degenerations.
Shrestha R et al.
Tzu Chi Medical Journal, 0
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child.
Minh-Phu N et al.
Oman Journal of Ophthalmology, 0