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Autosomal Dominant 20 Deafness

mutation in ACTG1

Also Known As:

Deafness, Autosomal Dominant 20; DFNA20; DFNA26

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Deafness (Deaf Mutism)
2.	Hearing Loss (Hearing Impairment)
3.	Nonsyndromic Deafness

Experts

1.	Bryan, Keith E: 3 articles (08/2009 - 07/2006)
2.	Rubenstein, Peter A: 3 articles (08/2009 - 07/2006)
3.	Chapagain, Prem: 1 article (06/2018)
4.	Li, Tao: 1 article (06/2018)
5.	Li, Wan: 1 article (06/2018)
6.	Liao, Shixiu: 1 article (06/2018)
7.	Liu, Hongjian: 1 article (06/2018)
8.	Liu, Xuezhong: 1 article (06/2018)
9.	Mittal, Rahul: 1 article (06/2018)
10.	Qin, Litao: 1 article (06/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant 20 Deafness:

1.	Actins (F Actin)IBA 08/15/2009 - "In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment." 07/03/2009 - "Auditory hair cell function requires proper assembly and regulation of the nonmuscle gamma isoactin-rich cytoskeleton, and six point mutations in this isoactin cause a type of delayed onset autosomal dominant nonsyndromic progressive hearing loss, DFNA20/26. " 07/21/2006 - "Six point mutations in non-muscle gamma-actin at the DFNA20/26 locus cause autosomal dominant nonsyndromic hearing loss. " 07/21/2006 - "Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function." 12/01/2003 - "A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)."
2.	Actin Depolymerizing Factors (Cofilins)IBA 07/03/2009 - "Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction."
3.	Codon (Codons)IBA 06/01/2018 - "The present data are in line with previous evidence to suggest that codon K118 of ACTG1 may represent a mutational hot spot that justifies a mutation screen for diagnostic purpose in the genetically heterogeneous group of DFNA20/26."
4.	Amino Acids FDA Link 06/01/2018 - "Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot."