(Q30405518)

11 August 2017

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder (English)

1 reference

Auditory neuropathy spectrum disorder

11 August 2017

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author

Christine Petit

28

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Jun Wang

25

0 references

Colleen A Campbell

object named as

Colleen A Campbell

9

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author name string

Liang Zong

1

1 reference

11 August 2017

Jing Guan

2

1 reference

11 August 2017

Megan Ealy

3

1 reference

11 August 2017

Qiujing Zhang

4

1 reference

11 August 2017

Dayong Wang

5

1 reference

11 August 2017

Hongyang Wang

6

1 reference

11 August 2017

Yali Zhao

7

1 reference

11 August 2017

Zhirong Shen

8

1 reference

11 August 2017

Fengchao Wang

10

1 reference

11 August 2017

Ju Yang

11

1 reference

11 August 2017

Wei Sun

12

1 reference

11 August 2017

Lan Lan

13

1 reference

11 August 2017

Dalian Ding

14

1 reference

11 August 2017

Linyi Xie

15

1 reference

11 August 2017

Yue Qi

16

1 reference

11 August 2017

Xin Lou

17

1 reference

11 August 2017

Xusheng Huang

18

1 reference

11 August 2017

Qiang Shi

19

1 reference

11 August 2017

Suhua Chang

20

1 reference

11 August 2017

Wenping Xiong

21

1 reference

11 August 2017

Zifang Yin

22

1 reference

11 August 2017

Ning Yu

23

1 reference

11 August 2017

Hui Zhao

24

1 reference

11 August 2017

Jing Wang

26

1 reference

11 August 2017

Richard J Salvi

27

1 reference

11 August 2017

Richard J H Smith

29

1 reference

11 August 2017

Qiuju Wang

30

1 reference

11 August 2017

language of work or name

English

0 references

publication date

18 May 2015

1 reference

Journal of Medical Genetics

11 August 2017

1 reference

11 August 2017

52

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11 August 2017

8

1 reference

11 August 2017

523-531

1 reference

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

TBC1D24 mutation causes autosomal-dominant nonsyndromic 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=4518735

Addition of exogenous NAD+ prevents mefloquine-induced neuroaxonal and hair cell degeneration through reduction of caspase-3-mediated apoptosis in cochlear organotypic cultures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic 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=4518735

AIF, reactive oxygen species, and neurodegeneration: a "complex" problem

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Predicting the functional effect of amino acid substitutions and indels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Auditory neuropathy in a low-risk population: a review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Pediatric cochlear implantation of children with eighth nerve deficiency.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Assessing the enrichment performance in targeted resequencing experiments

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Genetics of isolated auditory neuropathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Auditory neuropathies: understanding their pathogenesis to illuminate intervention strategies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Cisplatin ototoxicity in rat cochlear organotypic cultures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Predicting the functional impact of protein mutations: application to cancer genomics

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Cochlear implantation in children with cochlear nerve absence or deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

AIF-mediated caspase-independent necroptosis: a new chance for targeted therapeutics.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Imaging characteristics of children with auditory neuropathy spectrum disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Mitochondrial regulation of cell death: processing of apoptosis-inducing factor (AIF).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

A method and server for predicting damaging missense 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=4518735

20 June 2018

Life with or without AIF

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Evaluation of inner hair cell and nerve fiber loss as sufficient pathologies underlying auditory neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

SNP detection for massively parallel whole-genome resequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound 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=4518735

Auditory neuropathy: endocochlear lesion or temporal processing impairment? Implications for diagnosis and management

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Determinants of protein function revealed by combinatorial entropy optimization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Risk factors for auditory neuropathy/auditory synaptopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Familial auditory neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

"Auditory neuropathy": physiologic and pathologic evidence calls for more diagnostic specificity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Auditory neuropathy/auditory dys-synchrony detected by universal newborn hearing screening

20 June 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102961

AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102961

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102961

Electrophysiologic and behavioral outcomes of cochlear implantation in children with auditory nerve hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102961

Auditory neuropathy: a challenge for diagnosis and treatment

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

Imaging findings of cochlear nerve deficiency.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4518735

10.1136/JMEDGENET-2014-102961

26 November 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

25986071

1 reference