(Q48113126)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16281288%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region (English)

1 reference

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9 January 2020

10

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9 January 2020

author name string

Satoshi Yonezawa

1

1 reference

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9 January 2020

Norio Yoshizaki

2

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9 January 2020

Takashi Kageyama

3

1 reference

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9 January 2020

Takayuki Takahashi

4

1 reference

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9 January 2020

Mamoru Sano

5

1 reference

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9 January 2020

Yoshihito Tokita

6

1 reference

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9 January 2020

Shigeo Masaki

7

1 reference

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9 January 2020

Yutaka Inaguma

8

1 reference

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9 January 2020

Atsuko Hanai

9

1 reference

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9 January 2020

Atsushi Yoshiki

11

1 reference

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9 January 2020

Moriaki Kusakabe

12

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9 January 2020

Akihiko Moriyama

13

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9 January 2020

Atsuo Nakayama

14

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9 January 2020

publication date

1 January 2006

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9 January 2020

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9 January 2020

volume

27

1 reference

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9 January 2020

issue

1

1 reference

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9 January 2020

page(s)

88-97

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Interactions in the network of Usher syndrome type 1 proteins

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

The molecular genetics of Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

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/10.1002%2FHUMU.20266

7 January 2021

Clinical presentation of DFNB12 and Usher syndrome type 1D.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

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/10.1002%2FHUMU.20266

7 January 2021

Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Genetic insights into the morphogenesis of inner ear hair cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

A type VII myosin encoded by the mouse deafness gene shaker-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Genes involved in deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Genetic heterogeneity in Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Haplotype analysis of the USH1D locus and genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Degenerative hairlets on the vestibular sensory cells in mutant bustling (BUS/Idr) mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Mechanisms that regulate mechanosensory hair cell differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Usher syndrome: from genetics to pathogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Cadherin 23 is a component of the tip link in hair-cell stereocilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

A genetic approach to understanding auditory function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

The structure of tip links and kinocilial links in avian sensory hair bundles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Cathepsin E from rat neutrophils: its properties and possible relations to cathepsin D-like and cathepsin E-like acid proteinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Cochlear histopathology of the mutant bustling mouse, BUS/Idr

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Chromosomal localization of a gene responsible for vestibulocochlear defects of BUS/Idr mice: identification as an allele of waltzer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Possible involvement of myosin‐X in intercellular adhesion: Importance of serial pleckstrin homology regions for intracellular localization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Two-step consumption of yolk granules during the development of quail embryos

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20266

7 January 2021

Identifiers

DOI

10.1002/HUMU.20266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16281288%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference