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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 …
The role of pyroptosis in cancer: pro-cancer or pro-"host"?
Xia X, Wang X, Cheng Z, Qin W, Lei L, Jiang J, Hu J. Xia X, et al. Cell Death Dis. 2019 Sep 9;10(9):650. doi: 10.1038/s41419-019-1883-8. Cell Death Dis. 2019. PMID: 31501419 Free PMC article. Review.
In addition, the induction of tumor pyroptosis is also considered a potential cancer treatment strategy. Studies have shown that DFNA5 (nonsyndromic hearing impairment protein 5)/GSDME (Gasdermin-E) mRNA methylation results in lower expression levels of DFNA5/GSDME …
In addition, the induction of tumor pyroptosis is also considered a potential cancer treatment strategy. Studies have shown that DFNA5 (n …
Types of Inheritance and Genes Associated with Familial Meniere Disease.
Parra-Perez AM, Lopez-Escamez JA. Parra-Perez AM, et al. J Assoc Res Otolaryngol. 2023 Jun;24(3):269-279. doi: 10.1007/s10162-023-00896-0. Epub 2023 Apr 6. J Assoc Res Otolaryngol. 2023. PMID: 37022572 Free PMC article. Review.
Meniere disease (MD) is a rare disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. ...The condition has a significant heritability according to epidemiological and familial segregation studies. Fam …
Meniere disease (MD) is a rare disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes …
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 …
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL, Maslova EA, Danilchenko VY, Zytsar MV, Orishchenko KE. Posukh OL, et al. Biomolecules. 2023 Oct 13;13(10):1521. doi: 10.3390/biom13101521. Biomolecules. 2023. PMID: 37892203 Free PMC article. Review.
Pathogenic variants in the GJB2 gene, resulting in amino acid substitutions scattered across the Cx26 domains, lead to a variety of clinical outcomes, including the most common non-syndromic autosomal recessive deafness (DFNB1A), autosomal dominant deafness ( …
Pathogenic variants in the GJB2 gene, resulting in amino acid substitutions scattered across the Cx26 domains, lead to a variety of clinical …
KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.
Nie L. Nie L. Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):441-4. doi: 10.1097/MOO.0b013e32830f4aa3. Curr Opin Otolaryngol Head Neck Surg. 2008. PMID: 18797286 Free PMC article. Review.
PURPOSE OF REVIEW: This article provides an update on the current progress in identification of KCNQ4 mutations responsible for DFNA2, a subtype of autosomal dominant nonsyndromic progressive hearing loss. RECENT FINDINGS: Hearing loss …
PURPOSE OF REVIEW: This article provides an update on the current progress in identification of KCNQ4 mutations responsible for DFNA2, a sub …
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 c …
Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing …
Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes.
Stinckens C, Ensink R, Feenstra L, Fryns JP, Cremers C. Stinckens C, et al. Int J Pediatr Otorhinolaryngol. 1997 Jan 3;38(3):237-45. doi: 10.1016/s0165-5876(96)01444-9. Int J Pediatr Otorhinolaryngol. 1997. PMID: 9051428 Review.
The best known forms of hearing loss with an autosomal dominant pattern of inheritance are the syndromic-mediated ones. ...In view of the great diversity of types that have been recognized in such a short period, it can be expected that over the next …
The best known forms of hearing loss with an autosomal dominant pattern of inheritance are the syndromic-mediate …
Hereditary deafness and phenotyping in humans.
Bitner-Glindzicz M. Bitner-Glindzicz M. Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73. Br Med Bull. 2002. PMID: 12324385 Review.
Most forms of non-syndromic autosomal recessive hearing impairment cause a prelingual hearing loss, which is generally severe to profound and not associated with abnormal radiology. ...Unusual phenotypes in autosomal dominant forms of dea …
Most forms of non-syndromic autosomal recessive hearing impairment cause a prelingual hearing loss, which is gen …
Hereditary hearing loss and deafness genes in Japan.
Ito T, Noguchi Y, Yashima T, Ohno K, Kitamura K. Ito T, et al. J Med Dent Sci. 2010 Mar;57(1):1-10. J Med Dent Sci. 2010. PMID: 20437760 Review.
Hearing loss (HL) is the most common sensory impairment occurring at birth in developed countries. ...More than 10 deafness genes have been reported to be responsible for nonsyndromic hereditary HL in Japan. ...
Hearing loss (HL) is the most common sensory impairment occurring at birth in developed countries. ...More than 10 deaf …
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