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Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.
Yang T, Guo L, Wang L, Yu X. Yang T, et al. Adv Exp Med Biol. 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5. Adv Exp Med Biol. 2019. PMID: 30915702 Review.
It is estimated that at least 50% of congenital or childhood hearing loss is attributable to genetic causes. In non-syndromic hearing loss, which accounts for 70% of genetic hearing loss, approximately 80% of cases are autosomal …
It is estimated that at least 50% of congenital or childhood hearing loss is attributable to genetic causes. In non-syndromic …
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD, Acuña R, Figueroa V, Maripillan J, Nicholson B. Martínez AD, et al. Antioxid Redox Signal. 2009 Feb;11(2):309-22. doi: 10.1089/ars.2008.2138. Antioxid Redox Signal. 2009. PMID: 18837651 Free PMC article. Review.
Mutations in connexins 26, 31, 30, 32, and 43 have been associated with nonsyndromic or syndromic deafness. The majority of these mutations are inherited in an autosomal recessive manner, but a few of them have been associated with dominantly inherited hea …
Mutations in connexins 26, 31, 30, 32, and 43 have been associated with nonsyndromic or syndromic deafness. The majority of these mut …
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Finsterer J, Fellinger J. Finsterer J, et al. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. doi: 10.1016/j.ijporl.2004.12.002. Int J Pediatr Otorhinolaryngol. 2005. PMID: 15850684 Review.
Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing loss. ...Postlingual nonsyndromic HIH usually follows an autosomal dominant trait. Of the 41 mutated genes that cause …
Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing …
LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.
Laurentino TS, Soares RDS, Marie SKN, Oba-Shinjo SM. Laurentino TS, et al. Int J Mol Sci. 2019 Jul 23;20(14):3587. doi: 10.3390/ijms20143587. Int J Mol Sci. 2019. PMID: 31340433 Free PMC article. Review.
LOXL3 belongs to a family including other members: LOX, LOXL1, LOXL2, and LOXL4. Autosomal recessive mutations are rare and described in patients with Stickler syndrome, early-onset myopia and non-syndromic cleft palate. ...
LOXL3 belongs to a family including other members: LOX, LOXL1, LOXL2, and LOXL4. Autosomal recessive mutations are rare and de …
[Genetics of congenital deafness].
Faundes V, Pardo RA, Castillo Taucher S. Faundes V, et al. Med Clin (Barc). 2012 Oct 20;139(10):446-51. doi: 10.1016/j.medcli.2012.02.014. Epub 2012 Apr 24. Med Clin (Barc). 2012. PMID: 22538062 Review. Spanish.
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ...More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss …
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ... …
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X. Lu YJ, et al. Medicine (Baltimore). 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248. Medicine (Baltimore). 2015. PMID: 26683941 Free PMC article. Review.
Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. This study aims to perform a meta-analysis based on the PRISMA st …
Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of S …