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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 …
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Honda K, Griffith AJ. Honda K, et al. Hum Genet. 2022 Apr;141(3-4):455-464. doi: 10.1007/s00439-021-02311-1. Epub 2021 Aug 3. Hum Genet. 2022. PMID: 34345941 Review.
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. ...A thyroid iodine organification defect can lead to multinodular goiter a …
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 …
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
Calcium signaling pathway is crucial for signal transduction in the inner ear, and integrins regulate hair cell differentiation and maturation of the stereocilia. To date, mutations detected in CIB2 are causative for nonsyndromic hearing loss (DFNB48) or Ushe …
Calcium signaling pathway is crucial for signal transduction in the inner ear, and integrins regulate hair cell differentiation and maturati …
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.
TRIOBP-1 is important for regulating F-actin filament reorganization. TRIOBP variants are broadly classified as variant-1 or - 4 and do not share exons. TRIOBP variant-5 contains all exons. Earlier studies indicated that TRIOBP-4/5 mutation is a pivotal element of …
TRIOBP-1 is important for regulating F-actin filament reorganization. TRIOBP variants are broadly classified as variant-1 or - 4 and …
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES, Kelley PM. Cohn ES, et al. Am J Med Genet. 1999 Sep 24;89(3):130-6. Am J Med Genet. 1999. PMID: 10704187 Review.
A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1. A broad spectrum of mutations in GJB2 has been found to be associated with hearing loss, including another deletion mutation, 167delT, which has a carrier rate of abo …
A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1. A broad spectrum of mutati …