(Q44775711)

6 December 2017

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment (English)

1 reference

6 December 2017

1 reference

Luping Zhang

1

1 reference

6 December 2017

Lingxiang Hu

2

1 reference

6 December 2017

Yongchuan Chai

3

1 reference

6 December 2017

Xiuhong Pang

4

1 reference

6 December 2017

Tao Yang

5

1 reference

6 December 2017

Hao Wu

6

1 reference

6 December 2017

6 May 2014

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6 December 2017

1 reference

6 December 2017

35

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6 December 2017

7

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6 December 2017

814-818

1 reference

DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.

6 December 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

The genetic basis of DOORS syndrome: an exome-sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

TBC1D24 truncating mutation resulting in severe neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22558

21 January 2018

Identifiers

DOI

10.1002/HUMU.22558

1 reference

6 December 2017

1 reference