(Q28592874)

USH1 protein network component sans

1 reference

Myosin VIIA

1 reference

Cadherin 23 (otocadherin)

1 reference

Protocadherin 15

1 reference

Usher syndrome: from genetics to pathogenesis.

Usher syndrome type 1

1 reference

1 reference

10

0 references

Yoshiaki Kikkawa

series ordinal

3

0 references

Aziz El-Amraoui

object named as

Aziz El-Amraoui

series ordinal

9

0 references

Dominique Weil

series ordinal

6

object named as

Dominique Weil

1 reference

31 January 2017

1

Avital Adato

1 reference

31 January 2017

7

Hiromichi Yonekawa

1 reference

31 January 2017

8

Uwe Wolfrum

1 reference

31 January 2017

4

Jan Reiners

1 reference

31 January 2017

2

Vincent Michel

1 reference

31 January 2017

5

Kumar N. Alagramam

1 reference

31 January 2017

1 February 2005

1 reference

31 January 2017

Human Molecular Genetics

1 reference

31 January 2017

14

1 reference

31 January 2017

3

1 reference

31 January 2017

347–356

1 reference

31 January 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Mechanical amplification of stimuli by hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

SAM as a protein interaction domain involved in developmental regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

The crystal structure of an Eph receptor SAM domain reveals a mechanism for modular dimerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Timed markers for the differentiation of the cuticular plate and stereocilia in hair cells from the mouse inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Ultrastructural findings in the inner ear of Jackson shaker mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Unconventional myosins in inner-ear sensory epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

The ankyrin repeat: a diversity of interactions on a common structural framework

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

SAM: a novel motif in yeast sterile and Drosophila polyhomeotic proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

PIP(2)-PDZ domain binding controls the association of syntenin with the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

PDZ Domain Proteins: Plug and Play!

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Regulation of the TRP Ca2+ channel by INAD in Drosophila photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031

Expression of myosin VIIA during mouse embryogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI031