Associated Papers
Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.
Fernández AA et al.
Advances in Experimental Medicine and Biology, 2025
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
Li RTH et al.
Investigative Ophthalmology & Visual Science, 2023
Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.
Xu L et al.
The American Journal of Pathology, 2023
Late-Onset Retinal Degeneration: Clinical Perspectives.
Lando L et al.
Clinical Ophthalmology (auckland, N.z.), 2022
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
Miyagishima KJ et al.
Communications Biology, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
De Zaeytijd J et al.
Ophthalmic Genetics, 2021
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
Kellner U et al.
International Journal of Molecular Sciences, 2021
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.
Borooah S et al.
Ophthalmic Genetics, 2018
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.
Stanton CM et al.
Scientific Reports, 2017
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