Continuing to break the sound barrier: genes in hearing (Q34699453)

4 August 2017

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title

Continuing to break the sound barrier: genes in hearing (English)

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4 August 2017

Linda M Call

1

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4 August 2017

Cynthia C Morton

series ordinal

2

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4 August 2017

publication date

1 June 2002

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Current Opinion in Genetics & Development

4 August 2017

published in

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4 August 2017

volume

12

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4 August 2017

issue

3

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4 August 2017

page(s)

343-348

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Genetic epidemiology of hearing impairment

4 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Genes responsible for human hereditary deafness: symphony of a thousand

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7 January 2021

A genetic approach to understanding auditory function

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7 January 2021

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Haplotype analysis of the USH1D locus and genotype-phenotype correlations

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7 January 2021

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

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7 January 2021

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

1 reference

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7 January 2021

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

1 reference

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7 January 2021

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

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7 January 2021

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

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7 January 2021

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

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7 January 2021

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

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7 January 2021

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

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7 January 2021

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

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7 January 2021

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

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7 January 2021

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

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7 January 2021

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

1 reference

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7 January 2021

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

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7 January 2021

Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

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7 January 2021

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

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7 January 2021

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Physical mapping of the mouse tilted locus identifies an association between human deafness loci DFNA6/14 and vestibular system development

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

1 reference

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7 January 2021

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Mitochondrial deafness mutations reviewed

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Candidate locus for a nuclear modifier gene for maternally inherited deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v).

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900308-8

7 January 2021

10.1016/S0959-437X(02)00308-8

Identifiers

DOI

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4 August 2017

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