(Q28590107)

31 January 2017

title

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

1 reference

31 January 2017

1 reference

GOA release 2020-03-11

1 reference

13

0 references

Christine Petit

23

0 references

Lee Moir

17

0 references

Andreas Rump

7

0 references

Aziz El-Amraoui

object named as

Aziz El-Amraoui

5

0 references

Isabelle Perfettini

11

object named as

Isabelle Perfettini

1 reference

31 January 2017

22

Karen P. Steel

1 reference

31 January 2017

4

Dominique Weil

1 reference

31 January 2017

2

Mirna Mustapha

1 reference

31 January 2017

1

Philomena Mburu

1 reference

31 January 2017

Anabel Varela

3

1 reference

31 January 2017

Ralph H. Holme

6

1 reference

31 January 2017

Rachel E. Hardisty

8

1 reference

31 January 2017

Stéphane Blanchard

9

1 reference

31 January 2017

Roney S. Coimbra

10

1 reference

31 January 2017

Nick Parkinson

12

1 reference

31 January 2017

Pete Glenister

14

1 reference

31 January 2017

Mike J. Rogers

15

1 reference

31 January 2017

Adam J. Paige

16

1 reference

31 January 2017

Jo Clay

18

1 reference

31 January 2017

Andre Rosenthal

19

1 reference

31 January 2017

Xue Zhong Liu

20

1 reference

31 January 2017

Gonzalo Blanco

21

1 reference

31 January 2017

Steve D. M. Brown

24

1 reference

31 January 2017

language of work or name

English

0 references

publication date

1 August 2003

1 reference

31 January 2017

1 reference

31 January 2017

volume

34

1 reference

31 January 2017

issue

4

1 reference

31 January 2017

page(s)

421–428

1 reference

31 January 2017

1 reference

7 January 2021

Actin filaments, stereocilia, and hair cells: how cells count and measure

1 reference

7 January 2021

Postnatal development of the hamster cochlea. I. Growth of hair cells and the organ of Corti

1 reference

7 January 2021

Who does the hair cell's 'do? Rho GTPases and hair-bundle morphogenesis

1 reference

7 January 2021

Mechanisms that regulate mechanosensory hair cell differentiation

1 reference

7 January 2021

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

1 reference

7 January 2021

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

1 reference

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

7 January 2021

Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha8beta1

1 reference

7 January 2021

The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.

1 reference

7 January 2021

Identification of genes expressed after noise exposure in the chick basilar papilla

1 reference

7 January 2021

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

1 reference

7 January 2021

Focusing on the genetics of hearing: you ain't heard nothin' yet.

1 reference

7 January 2021

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

1 reference

7 January 2021

Genetic mapping of the whirler mutation.

1 reference

7 January 2021

A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate.

1 reference

7 January 2021

Comparative genome sequence analysis of the Bpa/Str region in mouse and Man

1 reference

7 January 2021

Regulation of CD40 and CD40 ligand by the AT-hook transcription factor AKNA

1 reference

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

7 January 2021

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

1 reference

7 January 2021

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

1 reference

7 January 2021

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

1 reference

7 January 2021

Genetics and evolution of the acute phase proteins in mice

1 reference

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

7 January 2021

PDZ domains: targeting signalling molecules to sub-membranous sites

1 reference

7 January 2021

PDZ domains: fundamental building blocks in the organization of protein complexes at the plasma membrane

1 reference

7 January 2021

PDZ domains in synapse assembly and signalling

1 reference

7 January 2021

PDZ domains and the organization of supramolecular complexes

1 reference

7 January 2021

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

1 reference

7 January 2021

The importance of being proline: the interaction of proline-rich motifs in signaling proteins with their cognate domains

1 reference

7 January 2021

Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1

1 reference

7 January 2021

Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family

1 reference

7 January 2021

Regulation of cortical structure by the ezrin-radixin-moesin protein family

1 reference

7 January 2021

RhoA-dependent phosphorylation and relocalization of ERM proteins into apical membrane/actin protrusions in fibroblasts

1 reference

7 January 2021

A new DNA sequence assembly program

1 reference

7 January 2021

RUMMAGE – a high-throughput sequence annotation system

1 reference

7 January 2021

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

1 reference

7 January 2021

A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

1 reference

7 January 2021

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

1 reference

7 January 2021