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MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A, Ma X, Savoia A, Adelstein RS. Pecci A, et al. Gene. 2018 Jul 20;664:152-167. doi: 10.1016/j.gene.2018.04.048. Epub 2018 Apr 19. Gene. 2018. PMID: 29679756 Free PMC article. Review.
Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with other proteins. Variants of MYH9 cause an autosomal-dominant disorder, termed MYH9-related disease, and may be involved in other …
Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with oth …
Autosomal dominant nonsyndromic hearing impairment.
Van Laer L, McGuirt WT, Yang T, Smith RJ, Van Camp G. Van Laer L, et al. Am J Med Genet. 1999 Sep 24;89(3):167-74. doi: 10.1002/(sici)1096-8628(19990924)89:3<167::aid-ajmg7>3.3.co;2-m. Am J Med Genet. 1999. PMID: 10704191 Review.
Nearly all genes that have been localized for autosomal dominantly inherited hearing impairment are characterized by postlingual hearing loss that is progressive in nature. ...In most cases, extended pedigrees have been used to localize autosomal …
Nearly all genes that have been localized for autosomal dominantly inherited hearing impairment are characterized by postlingu …
Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art.
Nourbakhsh A, Colbert BM, Nisenbaum E, El-Amraoui A, Dykxhoorn DM, Koehler KR, Chen ZY, Liu XZ. Nourbakhsh A, et al. J Assoc Res Otolaryngol. 2021 Apr;22(2):95-105. doi: 10.1007/s10162-020-00781-0. Epub 2021 Jan 28. J Assoc Res Otolaryngol. 2021. PMID: 33507440 Free PMC article. Review.
Progressive non-syndromic sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment, affecting more than a third of individuals over the age of 65. PNSHL includes noise-induced hearing loss (NIHL) and inherited forms of deafness …
Progressive non-syndromic sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment, affecting more th …
Vestibular function in families with inherited autosomal dominant hearing loss.
Street VA, Kallman JC, Strombom PD, Bramhall NF, Phillips JO. Street VA, et al. J Vestib Res. 2008;18(1):51-8. J Vestib Res. 2008. PMID: 18776598 Free PMC article. Review.
Given the similar physiology between these two organs, hearing loss and vestibular dysfunction may be expected to occur simultaneously in individuals segregating mutations in inner ear genes. Twenty-two different genes have been discovered that when mutated lead to …
Given the similar physiology between these two organs, hearing loss and vestibular dysfunction may be expected to occur simult …
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. Cryns K, et al. Hum Mutat. 2003 Oct;22(4):275-87. doi: 10.1002/humu.10258. Hum Mutat. 2003. PMID: 12955714 Review.
WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing …
WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations …
On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
Verdoodt D, Van Camp G, Ponsaerts P, Van Rompaey V. Verdoodt D, et al. Hear Res. 2021 Mar 1;401:108162. doi: 10.1016/j.heares.2020.108162. Epub 2020 Dec 30. Hear Res. 2021. PMID: 33421658 Review.
DeaFNess Autosomal Dominant 9 (DFNA9) is a dominant hereditary non-syndromic form of progressive sensorineural hearing loss often associated with vestibular dysfunction. ...This gene encodes for cochlin, a protein that is abundantly expressed in …
DeaFNess Autosomal Dominant 9 (DFNA9) is a dominant hereditary non-syndromic form of progressive sensorineural heari …