(Q24301988)

GOA release 2020-03-11

Usherin

1 reference

Adhesion G protein-coupled receptor V1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Ronald Roepman

14

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Uwe Wolfrum

12

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Marlies Knipper

13

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Tina Märker

7

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Erwin van Wijk

1

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Hannie Kremer

15

object named as

Hannie Kremer

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Frans P M Cremers

11

object named as

Frans P M Cremers

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author name string

Bert van der Zwaag

2

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Theo Peters

3

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Ulrike Zimmermann

4

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Heleen Te Brinke

5

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Ferry F J Kersten

6

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Elena Aller

8

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Lies H Hoefsloot

9

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Cor W R J Cremers

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

10

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language of work or name

English

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publication date

1 March 2006

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published in

Human Molecular Genetics

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volume

15

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issue

5

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page(s)

751-65

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Elongation of hair cell stereocilia is defective in the mouse mutant whirler

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

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%2FDDI490

Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Genetic insights into the morphogenesis of inner ear hair cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

The molecular genetics of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

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%2FDDI490

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%2FDDI490

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%2FDDI490

Interactions in the network of Usher syndrome type 1 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

PDZ domains-glue and guide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Protein ranking: from local to global structure in the protein similarity network

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Hair cell synaptic ribbons are essential for synchronous auditory signalling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Structure and function of ribbon synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Structure and innervation of the cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

The scaffolding protein CASK mediates the interaction between rabphilin3a and beta-neurexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Drosophila CAKI/CMG protein, a homolog of human CASK, is essential for regulation of neurotransmitter vesicle release.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

PDZ domain proteins of synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Differential expression and interaction with the visual G-protein transducin of centrin isoforms in mammalian photoreceptor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Actin in the photoreceptor connecting cilium: immunocytochemical localization to the site of outer segment disk formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

A proteomic analysis of human cilia: identification of novel components

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

7 January 2021

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

7 January 2021

Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

7 January 2021

Thyroid hormone deficiency before the onset of hearing causes irreversible damage to peripheral and central auditory systems.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI490

7 January 2021