Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder (Q34025977)

30 July 2017

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder (English)

1 reference

Auditory neuropathy spectrum disorder

30 July 2017

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author name string

Jian Wang

1

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30 July 2017

Ying-ying Fan

2

1 reference

30 July 2017

Shu-juan Wang

3

1 reference

30 July 2017

Peng-Fei Liang

4

1 reference

30 July 2017

Jin-ling Wang

5

1 reference

30 July 2017

Jian-hua Qiu

6

1 reference

30 July 2017

language of work or name

English

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publication date

15 September 2011

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30 July 2017

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30 July 2017

6

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30 July 2017

e24000

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30 July 2017

9

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Creative Commons Attribution 4.0 International

30 July 2017

start time

15 September 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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The genetic basis of auditory neuropathy spectrum disorder (ANSD).

5 July 2018

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Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

5 July 2018

1 reference

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Genetic heterogeneity in human disease

5 July 2018

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Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

5 July 2018

1 reference

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The molecular architecture of ribbon presynaptic terminals

5 July 2018

1 reference

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Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

5 July 2018

1 reference

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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

5 July 2018

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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

5 July 2018

1 reference

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Calcium- and otoferlin-dependent exocytosis by immature outer hair cells

5 July 2018

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Editorial: 'auditory neuropathy' and cochlear implantation - myths and facts

5 July 2018

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Speech perception in children with auditory neuropathy/dyssynchrony managed with either hearing AIDS or cochlear implants

5 July 2018

1 reference

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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

5 July 2018

1 reference

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Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

5 July 2018

1 reference

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

5 July 2018

1 reference

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Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174136

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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5 July 2018

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Auditory neuropathy/dys-synchrony: diagnosis and management.

5 July 2018

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The varieties of auditory neuropathy.

21 January 2018

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Auditory neuropathy/auditory dys-synchrony in school children with hearing loss: frequency of occurrence.

21 January 2018

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Clinical findings for a group of infants and young children with auditory neuropathy.

21 January 2018

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The frequency of auditory neuropathy detected by universal newborn hearing screening program

21 January 2018

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Permanent bilateral sensory and neural hearing loss of children after neonatal intensive care because of extreme prematurity: a thirty-year study.

21 January 2018

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Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.

21 January 2018

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Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

21 January 2018

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Novel OTOF mutations in Brazilian patients with auditory neuropathy.

21 January 2018

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Five new OTOF gene mutations and auditory neuropathy.

21 January 2018

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Cochlear implantation in auditory neuropathy.

21 January 2018

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

21 January 2018

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Results of cochlear implantation in two children with mutations in the OTOF gene.

21 January 2018

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Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

21 January 2018

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Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024000

Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024000

21 January 2018

[Auditory neuropathy]

1 reference

12 December 2020

In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains

1 reference

12 December 2020

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

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12 December 2020

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy

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12 December 2020

10.1371/JOURNAL.PONE.0024000

Identifiers

DOI

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30 July 2017

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30 July 2017

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