A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9 (Q30492341)

13 August 2017

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9 (English)

1 reference

13 August 2017

1 reference

Chantal Longo-Guess

1

1 reference

13 August 2017

Leona H Gagnon

series ordinal

2

1 reference

13 August 2017

David E Bergstrom

series ordinal

3

1 reference

13 August 2017

Kenneth R Johnson

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4

1 reference

13 August 2017

29 September 2007

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13 August 2017

1 reference

13 August 2017

234

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13 August 2017

1-2

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13 August 2017

21-28

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A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

A comparison of vestibular and auditory phenotypes in inbred mouse strains

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

A quantitative survey of gravity receptor function in mutant mouse strains

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Hair cells in the inner ear of the pirouette and shaker 2 mutant mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Vestibular responses to linear acceleration are absent in otoconia-deficient C57BL/6JEi-het mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

C2-domains, structure and function of a universal Ca2+-binding domain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Theoretical analysis of intercellular communication between the vestibular type I hair cell and its calyx ending.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Thyroid hormone deficiency affects postnatal spiking activity and expression of Ca2+ and K+ channels in rodent inner hair cells.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Partial behavioral compensation is revealed in balance tasked mutant mice lacking otoconia.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Gravity receptor function in mice with graded otoconial deficiencies.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

The glutamate receptor subunit delta1 is highly expressed in hair cells of the auditory and vestibular systems

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2140949

26 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17967520

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Snaring otoferlin's role in deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17967520

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.HEARES.2007.09.005

1 reference

13 August 2017

1 reference

13 August 2017

1 reference