(Q40549918)

21 September 2017

DFNA5: hearing impairment exon instead of hearing impairment gene? (English)

1 reference

21 September 2017

1 reference

Jean-Pierre Timmermans

7

1 reference

21 September 2017

8

1 reference

21 September 2017

L Van Laer

1

1 reference

21 September 2017

K Vrijens

2

1 reference

21 September 2017

S Thys

3

1 reference

21 September 2017

V F I Van Tendeloo

4

1 reference

21 September 2017

R J H Smith

5

1 reference

21 September 2017

D R Van Bockstaele

6

1 reference

21 September 2017

language of work or name

English

0 references

publication date

1 June 2004

1 reference

Journal of Medical Genetics

21 September 2017

1 reference

21 September 2017

41

1 reference

21 September 2017

6

1 reference

21 September 2017

401-406

1 reference

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Transgenic models of alpha-synuclein pathology: past, present, and future

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Human lysozyme gene mutations cause hereditary systemic amyloidosis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

A knowledge base for predicting protein localization sites in eukaryotic cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

DFNA5 (ICERE-1) contributes to acquired etoposide resistance in melanoma cells

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Huntington's disease: translating a CAG repeat into a pathogenic mechanism

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

The mec-4 gene is a member of a family of Caenorhabditis elegans genes that can mutate to induce neuronal degeneration

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Antiproliferative effect of plant cytokinin analogues with an inhibitory activity on cyclin-dependent kinases

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735793

Retinal genetics: a nullifying effect for rhodopsin

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15173223

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gain of glutamines, gain of function?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15173223

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2003.015073

1 reference

21 September 2017

1 reference

21 September 2017

1 reference