(Q28592874)

31 January 2017

title

Interactions in the network of Usher syndrome type 1 proteins (English)

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USH1 protein network component harmonin

31 January 2017

main subject

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USH1 protein network component sans

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Myosin VIIA

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Cadherin 23 (otocadherin)

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Protocadherin 15

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Usher syndrome type 1

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0 references

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Aziz El-Amraoui

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Dominique Weil

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31 January 2017

Avital Adato

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31 January 2017

Hiromichi Yonekawa

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31 January 2017

Uwe Wolfrum

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31 January 2017

Jan Reiners

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31 January 2017

Vincent Michel

1 reference

31 January 2017

Kumar N. Alagramam

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31 January 2017

publication date

1 February 2005

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31 January 2017

published in

Human Molecular Genetics

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31 January 2017

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31 January 2017

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31 January 2017

page(s)

347–356

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Usher syndrome: from genetics to pathogenesis.

31 January 2017

cites work

1 reference

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

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

21 January 2018

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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

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

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

21 January 2018

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

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

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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

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21 January 2018

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

21 January 2018

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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

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Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

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

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21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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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

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SAM as a protein interaction domain involved in developmental regulation

21 January 2018

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

21 January 2018

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

21 January 2018

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Ultrastructural findings in the inner ear of Jackson shaker mice

21 January 2018

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Unconventional myosins in inner-ear sensory epithelia

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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PDZ Domain Proteins: Plug and Play!

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Expression of myosin VIIA during mouse embryogenesis.

21 January 2018

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