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Function and expression pattern of nonsyndromic deafness genes
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
review article
1 reference
stated in
Europe PubMed Central
title
Function and expression pattern of nonsyndromic deafness genes
(English)
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
main subject
nonsyndromic deafness
1 reference
based on heuristic
inferred from title
deafness
1 reference
based on heuristic
inferred from title
author
Richard J Smith
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
Guy Van Camp
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
author name string
Nele Hilgert
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
publication date
1 June 2009
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
published in
Current Molecular Medicine
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
volume
9
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
issue
5
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
page(s)
546-564
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
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Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model
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Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse
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Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
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A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
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CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea
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Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss
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Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
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GJB2 mutations and degree of hearing loss: a multicenter study
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Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness
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Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells
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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
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20 June 2018
Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss.
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20 June 2018
Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease
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20 June 2018
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation
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20 June 2018
A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice
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20 June 2018
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
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20 June 2018
Interactions in the network of Usher syndrome type 1 proteins
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20 June 2018
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3
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20 June 2018
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment
1 reference
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20 June 2018
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations
1 reference
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20 June 2018
Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Genetic insights into the morphogenesis of inner ear hair cells.
1 reference
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PubMed Central
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20 June 2018
DFNA5: hearing impairment exon instead of hearing impairment gene?
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Deafness genes and their diagnostic applications
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
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20 June 2018
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Is DFNA5 a susceptibility gene for age-related hearing impairment?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Elongation of hair cell stereocilia is defective in the mouse mutant whirler
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Connexin mutations in hearing loss, dermatological and neurological disorders.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Targeted disruption of otog results in deafness and severe imbalance
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Unconventional myosins in cell movement, membrane traffic, and signal transduction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Nonsyndromic hearing impairment: unparalleled heterogeneity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Connections with connexins: the molecular basis of direct intercellular signaling
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
A type VII myosin encoded by the mouse deafness gene shaker-1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
20 June 2018
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Expression, purification and characterisation of the C-terminal STAS domain of the SLC26 anion transporter prestin.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Expression of Myh9 in the mammalian cochlea: localization within the stereocilia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Distribution of pendrin in the organ of Corti of mice observed by electron immunomicroscopy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Mice doubly deficient in the midkine and pleiotrophin genes exhibit deficits in the expression of beta-tectorin gene and in auditory response.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
High carrier frequency of the 35delG deafness mutation in European populations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840995
retrieved
26 November 2018
Gap Junction Systems in the Rat Vestibular Labyrinth: Immunohistochemical and Ultrastructural Analysis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19601806
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19601806
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mitochondrial deafness
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19601806
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19601806
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.2174/156652409788488775
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
PMCID
2840995
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
PubMed ID
19601806
1 reference
stated in
Europe PubMed Central
PMCID
2840995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19601806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 February 2020
ResearchGate publication ID
26670439
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