(Q35103804)

6 August 2017

title

Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64 (English)

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6 August 2017

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Jing Cheng

1

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6 August 2017

Yuhua Zhu

2

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6 August 2017

Sudan He

3

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6 August 2017

Yanping Lu

4

1 reference

6 August 2017

Jing Chen

5

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6 August 2017

Bing Han

6

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6 August 2017

Marco Petrillo

7

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6 August 2017

Kazimierz O Wrzeszczynski

8

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6 August 2017

Shiming Yang

9

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6 August 2017

Pu Dai

10

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6 August 2017

Suoqiang Zhai

11

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6 August 2017

Dongyi Han

12

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6 August 2017

Michael Q Zhang

13

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6 August 2017

Wei Li

14

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6 August 2017

Xuezhong Liu

15

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6 August 2017

Huawei Li

16

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6 August 2017

Zheng-Yi Chen

17

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6 August 2017

Huijun Yuan

18

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6 August 2017

language of work or name

English

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publication date

30 June 2011

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American Journal of Human Genetics

6 August 2017

published in

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6 August 2017

volume

89

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6 August 2017

issue

1

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6 August 2017

page(s)

56-66

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Discovery of a proneurogenic, neuroprotective chemical

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Hearing loss: mechanisms revealed by genetics and cell biology

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Mitochondrial dysfunction leads to nuclear genome instability via an iron-sulfur cluster defect

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Life cell quantification of mitochondrial membrane potential at the single organelle level.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

9 July 2018

Ageing and hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Mitochondrial oxidative stress: implications for cell death

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Mitochondrial abnormalities and oxidative imbalance in Alzheimer disease.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Molecular pathways involved in apoptotic cell death in the injured cochlea: cues to novel therapeutic strategies

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Caspases, the enemy within, and their role in oxidative stress-induced apoptosis of inner ear sensory cells.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

The Caspase Pathway in Noise-Induced Apoptosis of the Chinchilla Cochlea

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Non-syndromic autosomal-dominant deafness

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

At the speed of sound: gene discovery in the auditory system

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

A genetic approach to understanding auditory function

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Structural and biochemical basis of apoptotic activation by Smac/DIABLO

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Identification of DIABLO, a mammalian protein that promotes apoptosis by binding to and antagonizing IAP proteins

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

[Prevalence and etiology of people with hearing impairment in China].

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

Proliferation of functional hair cells in vivo in the absence of the retinoblastoma protein

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135809

10.1016/J.AJHG.2011.05.027

27 September 2018

Identifiers

DOI

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6 August 2017

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6 August 2017

1 reference