(Q34508656)

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

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scholarly article

1 reference

Europe PubMed Central

2 August 2017

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

1 reference

Europe PubMed Central

2 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Tatsuo Matsunaga

10

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24164807%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Atsushi Shimizu

3

object named as

Atsushi Shimizu

1 reference

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3 June 2020

author name string

Hideki Mutai

1

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3 June 2020

Naohiro Suzuki

2

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3 June 2020

Chiharu Torii

4

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3 June 2020

Kazunori Namba

5

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3 June 2020

Noriko Morimoto

6

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3 June 2020

Jun Kudoh

7

1 reference

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3 June 2020

Kimitaka Kaga

8

1 reference

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3 June 2020

Kenjiro Kosaki

9

1 reference

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3 June 2020

publication date

28 October 2013

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2 August 2017

Orphanet Journal of Rare Diseases

1 reference

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3 June 2020

8

1 reference

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3 June 2020

172

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3 June 2020

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-172

0 references

Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Genetics: advances in genetic testing for deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

High-throughput sequencing to decipher the genetic heterogeneity of deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Profound deafness in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

A FERM domain autoregulates Drosophila myosin 7a activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Newborn hearing screening--a silent revolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Interactions in the network of Usher syndrome type 1 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

UCSF Chimera--a visualization system for exploratory research and analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

The host guides morphogenesis and stomatal targeting in the grapevine pathogen Plasmopara viticola.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

A Method to Identify Protein Sequences That Fold into a Known Three-Dimensional Structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

Assessment of protein models with three-dimensional profiles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

7 July 2018

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-172

21 January 2018

Locking the hydrophobic loop 262-274 to G-actin surface by a disulfide bridge prevents filament formation

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-172

21 January 2018

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

1 reference

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21 January 2018

Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231469

27 October 2018

Comparative molecular modelling of the Fas-ligand and other members of the TNF family

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-172

21 January 2018

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

https://pubmed.ncbi.nlm.nih.gov/24164807

12 December 2020

based on heuristic

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Identifiers

10.1186/1750-1172-8-172

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24164807%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

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1 reference

Europe PubMed Central

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3 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24164807%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

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