Associated Papers
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy.
Maldonado R et al.
Molecular Genetics and Metabolism Reports, 2022
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.
Yin X et al.
Nature Communications, 2022
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
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.
Sen S et al.
Ophthalmic Genetics, 2021
Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy.
Piozzi E et al.
European Journal of Ophthalmology, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.
Peng Y et al.
Investigative Ophthalmology & Visual Science, 2015
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Doimo M et al.
Human Mutation, 2013
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Ohkubo Y et al.
The Tohoku Journal of Experimental Medicine, 2005
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.
Peltola KE et al.
Neurology, 2002
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.
Peltola KE et al.
Ophthalmology, 2001
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
Heinänen K et al.
Pediatric Research, 1998
Crystal structure of human recombinant ornithine aminotransferase.
Shen BW et al.
Journal of Molecular Biology, 1998
Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.
Mashima Y et al.
Current Eye Research, 1996
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
Wang T et al.
Nature Genetics, 1995
High frequencies of human genetic diseases: founder effect with genetic drift or selection?
Zlotogora J
American Journal of Medical Genetics, 1994
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
Kure S et al.
The Journal of Clinical Investigation, 1992
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
Brody LC et al.
The Journal of Biological Chemistry, 1992
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
Mitchell GA et al.
Proceedings of the National Academy of Sciences of the United States of America, 1989
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0