Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.
Ramsden CM et al.
Scientific Reports, 2017
A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.
Parinot C et al.
Advances in Experimental Medicine and Biology, 2016
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
Jinda W et al.
Molecular Vision, 2016
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Mackay DS et al.
Molecular Vision, 2010
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
Kim HJ et al.
Journal of Cellular Physiology, 2006
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M et al.
European Journal of Ophthalmology, 0
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