Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines

• Published in: International journal of molecular sciences Vol. 25; no. 18; p. 9993
• Main Authors: Tom, Wesley A., Chandel, Dinesh S., Jiang, Chao, Krzyzanowski, Gary, Fernando, Nirmalee, Olou, Appolinaire, Fernando, M. Rohan
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 17.09.2024; MDPI
• Subjects: Adult; Cadherin Related Proteins; Cell Line; Cells; Development and progression; Diagnosis; Extracellular Matrix Proteins; Female; Gene Expression Profiling - methods; Genes; Genetic aspects; Genotype; Genotype & phenotype; Hair; Health aspects; Hearing loss; Hearing protection; Humans; Localization; Male; Membrane Proteins - genetics; MicroRNA; MicroRNAs; MicroRNAs - genetics; Mutation; Myosin VIIa - genetics; Photoreceptors; Physiological aspects; Proteins; Retina; Usher Syndromes - genetics; Usher's syndrome; United States; exon sequencing; miRNA; microarray; droplet digital PCR; Usher syndrome; biomarkers
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms25189993

Usher syndrome (USH) is an inherited disorder characterized by sensorineural hearing loss (SNHL), retinitis pigmentosa (RP)-related vision loss, and vestibular dysfunction. USH presents itself as three distinct clinical types, 1, 2, and 3, with no biomarker for early detection. This study aimed to e...