ArticleScientific reports2024
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort.Investigative ophthalmology & visual science · 2026Article
- Full-Field Stimulus Threshold: A Key Functional Outcome Measure in Retinal Diseases and Clinical Trials.Journal of clinical medicine · 2026Review
- Fast Probabilistic Whitening Transformation for Ultra-High Dimensional Genetic Data.bioRxiv : the preprint server for biology · 2025Article
- The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications.Physiological reviews · 2025Review
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Authors and funding
5 authors.
Funding
Abstract
Jalili syndrome, an autosomal recessive disorder causing cone-rod dystrophy and amelogenesis imperfecta, is a rare genetic disorder impacting visual and dental development. Missense variants (c.1474G > T and c.1475G > A) previously identified in patients with Jalili syndrome have been linked to functional impairment of CNNM4, however, the biological consequences of these pathogenic variants remain largely unexplored. In this study, we investigated the functional implications of these CNNM4 missense variants, which correspond to p.(Gly492Cys) and p.(Gly492Asp) substitutions within the CBS domain of the CNNM4 protein. Our findings demonstrated that these variants exhibit significantly reduced protein stability and increased mRNA decay rates compared with wild type. Despite exhibiting normal Mg
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