Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration (Q28512195)

GOA release 2020-03-11

Myosin VIIA

1 reference

GOA release 2020-03-11

1 reference

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

31 March 2024

5

Karen P. Steel

1 reference

25 January 2017

1

Richard T. Libby

1 reference

Europe PubMed Central

PubMed ID

14609561

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14609561

31 March 2024

author name string

Junko Kitamoto

2

1 reference

25 January 2017

Ralph H. Holme

3

1 reference

25 January 2017

David S. Williams

4

1 reference

25 January 2017

Karen P. Steel

5

1 reference

Europe PubMed Central

PubMed ID

14609561

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14609561

31 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

PubMed ID

14609561

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14609561

full work available at URL

31 March 2024

publication date

1 December 2003

1 reference

25 January 2017

https://api.elsevier.com/content/article/PII:S0014483503002458?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

https://api.elsevier.com/content/article/PII:S0014483503002458?httpAccept=text/plain

31 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Experimental Eye Research

31 March 2024

published in

1 reference

25 January 2017

77

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25 January 2017

731–739

1 reference

25 January 2017

6

1 reference

25 January 2017

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

1

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

3

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

31 March 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Usher syndrome: definition and estimate of prevalence from two high-risk populations

31 March 2024

8

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Localization of origins of electroretinogram components by intraretinal recording in the intact cat eye

31 March 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse

31 March 2024

10

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

11

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

12

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

A dissection of the electroretinogram from the isolated rat retina with microelectrodes and drugs

31 March 2024

13

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Comparison of the waveforms of the ON bipolar neuron and the b-wave of the electroretinogram

31 March 2024

14

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression

31 March 2024

15

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Assessing abnormal rod photoreceptor activity with the a-wave of the electroretinogram: applications and methods

31 March 2024

16

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

17

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Genetic heterogeneity of Usher syndrome

31 March 2024

19

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations

31 March 2024

20

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

31 March 2024

21

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Gain and kinetics of activation in the G-protein cascade of phototransduction

31 March 2024

22

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B

31 March 2024

23

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome

31 March 2024

24

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

31 March 2024

25

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Recovery phase of the murine rod photoresponse reconstructed from electroretinographic recordings

31 March 2024

28

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Mutation analysis of the mouse myosin VIIA deafness gene

31 March 2024

29

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Signal transmission along retinal rods and the origin of the electroretinographic a-wave.

31 March 2024

30

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Usher syndrome: from genetics to pathogenesis.

31 March 2024

31

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

33

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

31 March 2024

34

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

B-wave of the electroretinogram. A reflection of ON bipolar cell activity

31 March 2024

35

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

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

31 March 2024

36

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Defective myosin VIIA gene responsible for Usher syndrome type 1B

31 March 2024

37

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

31 March 2024

38

1 reference

https://api.crossref.org/works/10.1016/J.EXER.2003.07.007

31 March 2024

Identifiers

release_jjmxxmr2rvf2jeaqpyeka7w7jm

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jjmxxmr2rvf2jeaqpyeka7w7jm