(Q50352845)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

7

Shin-Ichi Usami

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1

Maiko Miyagawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

5

Takaaki Murata

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

6

Shin-Ichiro Kitajiri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Aya Ichinose

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Satoshi Iwasaki

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

publication date

19 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

Annals of Otology Rhinology and Laryngology

3 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

124 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

84S-93S

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25792668%20AND%20SRC:MED&resulttype=core&format=json

A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25.

3 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Functional specificity of actin isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

wANNOVAR: annotating genetic variants for personal genomes via the web.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Identification of deleterious mutations within three human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Distribution and intensity of constraint in mammalian genomic sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Intelligence assessments for children with cerebral palsy: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

At least six different actins are expressed in a higher mammal: an analysis based on the amino acid sequence of the amino-terminal tryptic peptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Changes in F-actin labeling in the outer hair cell and the Deiters cell in the chinchilla cochlea following noise exposure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Gamma-actin is required for cytoskeletal maintenance but not development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Electric-acoustic stimulation of the auditory system: a review of the first decade.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057

Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0003489415575057