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
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Daich Varela M et al.
Ophthalmology. Retina, 2023
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Downes SM et al.
Genes, 2020
A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.
Domènech EB et al.
Investigative Ophthalmology & Visual Science, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.
Avela K et al.
Acta Ophthalmologica, 2019
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
Avela K et al.
Acta Ophthalmologica, 2018
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Novel RNA-binding protein P311 binds eukaryotic translation initiation factor 3 subunit b (eIF3b) to promote translation of transforming growth factor β1-3 (TGF-β1-3).
Yue MM et al.
The Journal of Biological Chemistry, 2014
CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis.
Li C et al.
Biochimica Et Biophysica Acta, 2014
CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules.
Fathinajafabadi A et al.
Plos One, 2014
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.
Garanto A et al.
Investigative Ophthalmology & Visual Science, 2011
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Littink KW et al.
Investigative Ophthalmology & Visual Science, 2010
[Genetic structure of populations and characteristics of geographic distribution of autosomal recessive diseases in the Kirov region].
Ginter EK et al.
Genetika, 1994