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Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until implementation of massively parallel DNA sequencing. In Europe, the most common form of autosomal recessive NSHI is DFNB1, wh …
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until …
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M, Koohian F, Azadegan-Dehkordi F. Koohiyan M, et al. Ann Hum Genet. 2020 Mar;84(2):107-113. doi: 10.1111/ahg.12354. Epub 2019 Sep 11. Ann Hum Genet. 2020. PMID: 31512227 Review.
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. ...In all, 332 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. In to …
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in …
Emerging roles of TRIO and F-actin-binding protein in human diseases.
Park S, Lee H, Kim M, Park J, Kim SH, Park J. Park S, et al. Cell Commun Signal. 2018 Jun 11;16(1):29. doi: 10.1186/s12964-018-0237-y. Cell Commun Signal. 2018. PMID: 29890989 Free PMC article. Review.
Earlier studies indicated that TRIOBP-4/5 mutation is a pivotal element of autosomal recessive nonsyndromic hearing loss. However, recent studies provide clues that TRIOBP variants are associated with other human diseases including cancer and br …
Earlier studies indicated that TRIOBP-4/5 mutation is a pivotal element of autosomal recessive nonsyndromic hearing …
An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review.
Koohiyan M, Ahmadi A, Koohian F, Aghaei S, Amiri B, Hashemzadeh-Chaleshtori M. Koohiyan M, et al. Int J Pediatr Otorhinolaryngol. 2019 Apr;119:136-140. doi: 10.1016/j.ijporl.2019.01.036. Epub 2019 Jan 25. Int J Pediatr Otorhinolaryngol. 2019. PMID: 30708180 Review.
OBJECTIVE: Mutations in the GJB2 gene are a major cause of autosomal recessive non-syndromic HL (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be between 16 and 18% in Iran, but would vary among differ …
OBJECTIVE: Mutations in the GJB2 gene are a major cause of autosomal recessive non-syndromic HL (ARNSHL) in many populations. …
Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.
Nickel R, Forge A. Nickel R, et al. Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: 10.1097/MOO.0b013e32830e20b0. Curr Opin Otolaryngol Head Neck Surg. 2008. PMID: 18797288 Review.
PURPOSE OF REVIEW: Mutations in GJB2 and GJB6, the genes encoding the gap-junction proteins connexin 26 and connexin 30, are the most common cause of autosomal recessive nonsyndromic deafness in many populations across the world. ...
PURPOSE OF REVIEW: Mutations in GJB2 and GJB6, the genes encoding the gap-junction proteins connexin 26 and connexin 30, are the most common …