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Deafness, autosomal dominant 5

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: AGE, HAD, HAIR, CAN, ACID
Papers on DFNA5
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.
Arcos-Burgos et al., Canberra, Australia. In Mol Psychiatry, Jan 2016
Exploratory linear mixed-effects multilocus analysis suggested that other functional variants harbored in genes involved in cell proliferation, protein degradation, apoptotic and immune dysregulation processes (i.e., GPR20, TRIM22, FCRL5, AOAH, PINLYP, IFI16, RC3H1 and DFNA5) might interact with the APOE*E2 allele.
Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.
Amr et al., Boston, United States. In Otol Neurotol, Dec 2015
HYPOTHESIS: Describe the histopathology of the inner ear in a patient with hearing loss caused by a pathogenic variant of the DFNA5 gene.
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.
Xing et al., Nanjing, China. In Chin Med J (engl), Oct 2015
DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL.
Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study.
Zhu et al., Hangzhou, China. In Environ Health, 2014
The purpose of this study was to examine the associations between genetic variations in the EYA4, GRHL2 and DFNA5 genes and the risk to noise-induced hearing loss (NIHL) in a Chinese population.
The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways.
Van Camp et al., Antwerp, Belgium. In Front Cell Neurosci, 2014
This study investigated PCD induced by DFNA5, a gene responsible for autosomal dominant hearing loss (HL) and a tumor suppressor gene (TSG) involved in frequent forms of cancer.
Sudden bilateral hearing loss in gastric cancer as the only symptom of disease.
Bisof et al., Zagreb, Croatia. In Onco Targets Ther, 2014
Inactivation of tumor suppressor gene DFNA5 was found in 50% of gastric cancers, but of a non-metastasized phenotype.
A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.
Yang et al., Shanghai, China. In Int J Pediatr Otorhinolaryngol, 2014
OBJECTIVES: Mutations in DFNA5 may lead to autosomal dominant non-syndromic sensorineural hearing loss (NSHL).
A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
Kitamura et al., Tokyo, Japan. In Ann Hum Genet, 2014
Mutations in DFNA5 lead to autosomal dominant nonsyndromic hereditary hearing loss (NSHHL).
Methylation of the DFNA5 gene is frequently detected in colorectal cancer.
Hibi et al., Yokohama, Japan. In Anticancer Res, 2012
DFNA5, a gene involved in hearing loss and cancer: a review.
Van Camp et al., Antwerp, Belgium. In Ann Otol Rhinol Laryngol, 2012
OBJECTIVES: The DFNA5 gene was identified in 1998 as a gene that causes an autosomal dominant form of hearing impairment.
Apoptosis in acquired and genetic hearing impairment: the programmed death of the hair cell.
Van Camp et al., Antwerp, Belgium. In Hear Res, 2011
These genes are TJP2, DFNA5 and MSRB3.
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.
Van Laer et al., Antwerp, Belgium. In Eur J Hum Genet, 2011
DFNA5 is composed of two domains, separated by a hinge region. The first region induces apoptosis when transfected in HEK293T cells, the second region masks and probably regulates this apoptosis inducing capability
[Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss].
Han et al., Beijing, China. In Lin Chuang Er Bi Yan Hou Ke Za Zhi, 2011
A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment.
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
Kim et al., Seoul, South Korea. In J Hum Genet, 2010
A founder effect was demonstrated for the mutation of the DFNA5 gene casusing hearing loss in East Asians.
Characterization of the murine Dfna5 promoter and regulatory regions.
Van Laer et al., Antwerp, Belgium. In Gene, 2009
The identification of the cochlear transcription initiation site (TIS), the core promoter region between relative to the TIS and an enhancer and a silencer element of Dfna5, is described.
Therapeutic regulation of gene expression in the inner ear using RNA interference.
Smith et al., Iowa City, United States. In Adv Otorhinolaryngol, 2008
Types of deafness in which gain-of-function mutations are observed include DFNA2 (KCNQ4), DFNA3 (GJB2) and DFNA5 (DFNA5).
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Petit et al., Paris, France. In Nat Genet, 2006
Pejvakin is a paralog of DFNA5, a protein of unknown function also involved in deafness.
[Progress of researches on gene function of GSDMDC family].
He et al., Beijing, China. In Yi Chuan, 2006
The GSDMDC family,a novel protein superfamily, includes five members (DFNA5, DFNA5L, GSDM, GSDML and MLZE), all of them containing a Gasdermin domain.
Genomics and hearing impairment.
Berlin et al., New Orleans, United States. In Genome Res, 1999
The genes that have been identified encode diaphanous (HDIA1), alpha-tectorin (TECTA), the transcription factor POU4F3, connexin 26 (GJB2), and two unconventional myosins (MYO7A and MYO15), and four novel proteins (PDS, COCH, DFNA5, DFNB9).
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Van Camp et al., Antwerp, Belgium. In Nat Genet, 1998
We previously reported linkage to chromosome 7p15 for autosomal dominant hearing impairment segregating in an extended Dutch family (DFNA5).
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