(Q50316944)

English

Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.

scientific article published on 2 March 2016

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

Yoshiaki Kikkawa

16

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

author name string

Yuki Miyasaka

1

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Hiroshi Shitara

2

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Sari Suzuki

3

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Sachi Yoshimoto

4

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Yuta Seki

5

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Yasuhiro Ohshiba

6

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Kazuhiro Okumura

7

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Choji Taya

8

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Hisashi Tokano

9

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Ken Kitamura

10

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Toyoyuki Takada

11

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Hiroshi Hibino

12

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Toshihiko Shiroishi

13

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Ryo Kominami

14

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Hiromichi Yonekawa

15

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

publication date

2 March 2016

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Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

25

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

10

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

2045-2059

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

Genetics and pathological mechanisms of Usher syndrome

1 reference

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21 January 2018

Genetic mapping and exome sequencing identify variants associated with five novel diseases

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21 January 2018

The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

1 reference

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21 January 2018

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

1 reference

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21 January 2018

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

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21 January 2018

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

1 reference

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21 January 2018

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Ultrastructural findings in the inner ear of Jackson shaker mice

1 reference

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21 January 2018

Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 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://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 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://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

HIV-1: gambling on the evolution of drug resistance?

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21 January 2018

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Clinical aspects of hereditary hearing loss.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Modifiers of hearing impairment in humans and mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Contributions of mouse models to understanding of age- and noise-related hearing loss

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Creating knockout and knockin rodents using engineered endonucleases via direct embryo injection.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Ahl3, a third locus on mouse chromosome 17 affecting age-related hearing loss.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

Quantitative trait loci on chromosome 5 for susceptibility to frequency-specific effects on hearing in DBA/2J mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW078

21 January 2018

β-Actin and fascin-2 cooperate to maintain stereocilia length

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21 January 2018

The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice

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21 January 2018

Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice

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21 January 2018

Age-related hearing loss in C57BL/6J mice is mediated by Bak-dependent mitochondrial apoptosis.

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21 January 2018

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

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21 January 2018

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

1 reference

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21 January 2018

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

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21 January 2018

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1

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21 January 2018

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

1 reference

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21 January 2018

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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21 January 2018

A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells

1 reference

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21 January 2018

Interactions in the network of Usher syndrome type 1 proteins

1 reference

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21 January 2018

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

1 reference

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21 January 2018

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

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21 January 2018

Sirt3 mediates reduction of oxidative damage and prevention of age-related hearing loss under caloric restriction

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Mouse inter-subspecific consomic strains for genetic dissection of quantitative complex traits.

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Efficient genome editing in zebrafish using a CRISPR-Cas system

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Identifiers

10.1093/HMG/DDW078

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 March 2018

http://europepmc.org/abstract/MED/26936824

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