Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (Q24299865)

23 June 2017

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (English)

1 reference

Calcium and integrin binding family member 2

23 June 2017

1 reference

cellular response to ATP

1 reference

Calcium and integrin binding family member 2

1 reference

Calcium and integrin binding family member 2

1 reference

Calcium and integrin binding family member 2 Dmel_CG9236

1 reference

Usher syndrome

1 reference

inferred from title

Usher syndrome type 1J

1 reference

inferred from title

nonsyndromic deafness

1 reference

1 reference

4

Kwanghyuk Lee

1 reference

23 June 2017

Artur A Indzhykulian

5

0 references

Tiffany A Cook

Tiffany Cook

26

0 references

Gregory I Frolenkov

Gregory I Frolenkov

28

0 references

Sulman Basit

Sulman Basit

17

0 references

Ghanshyam P Sinha

Ghanshyam P Sinha

8

0 references

Mustafa Tekin

Mustafa Tekin

24

0 references

Javed Akram

23

Javed Akram

1 reference

23 June 2017

25

Sheikh Riazuddin

1 reference

23 June 2017

2

Inna A Belyantseva

1 reference

23 June 2017

30

Thomas B Friedman

1 reference

23 June 2017

21

Wasim Ahmad

1 reference

23 June 2017

27

Elke K Buschbeck

1 reference

23 June 2017

1

Saima Riazuddin

1 reference

23 June 2017

29

Suzanne M Leal

1 reference

23 June 2017

7

Rizwan Yousaf

1 reference

23 June 2017

11

Rashmi S Hegde

1 reference

23 June 2017

13

Saima Anwar

1 reference

23 June 2017

22

Shaheen N Khan

1 reference

23 June 2017

Arnaud P J Giese

3

1 reference

23 June 2017

Sri Pratima Nandamuri

6

1 reference

23 June 2017

Sue Lee

9

1 reference

23 June 2017

David Terrell

10

1 reference

23 June 2017

Rana A Ali

12

1 reference

23 June 2017

Paula B Andrade-Elizondo

14

1 reference

23 June 2017

Asli Sirmaci

15

1 reference

23 June 2017

Leslie V Parise

16

1 reference

23 June 2017

Abdul Wali

18

1 reference

23 June 2017

Muhammad Ayub

19

1 reference

23 June 2017

Muhammad Ansar

20

1 reference

23 June 2017

Zubair M Ahmed

31

1 reference

23 June 2017

language of work or name

English

0 references

publication date

30 September 2012

1 reference

23 June 2017

1 reference

23 June 2017

44

1 reference

23 June 2017

11

1 reference

23 June 2017

1265-1271

1 reference

Tricellulin is a tight-junction protein necessary for hearing

23 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Regulation of InsP3 receptor activity by neuronal Ca2+-binding proteins

19 March 2017

1 reference

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Structural Basis for the Activation of Platelet Integrin αIIbβ3 by Calcium- and Integrin-Binding Protein 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Solution Structures of Ca 2+ -CIB1 and Mg 2+ -CIB1 and Their Interactions with the Platelet Integrin αIIb Cytoplasmic Domain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

The concentrations of calcium buffering proteins in mammalian cochlear hair cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Effective targeted gene 'knockdown' in zebrafish

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Using FlyAtlas to identify better Drosophila melanogaster models of human disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Calcium balance and mechanotransduction in rat cochlear hair cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Sweet taste receptor interacting protein CIB1 is a general inhibitor of InsP3-dependent Ca2+ release in vivo.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Phototransduction and retinal degeneration in Drosophila.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Splice-site A choice targets plasma-membrane Ca2+-ATPase isoform 2 to hair bundles

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Structural and biochemical characterization of CIB1 delineates a new family of EF-hand-containing proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Low endolymph calcium concentrations in deafwaddler2J mice suggest that PMCA2 contributes to endolymph calcium maintenance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

CaV1.3 channels are essential for development and presynaptic activity of cochlear inner hair cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

The afferent synapse of cochlear hair cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Adaptation in auditory hair cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

NompC TRP channel required for vertebrate sensory hair cell mechanotransduction.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

The distribution of calcium buffering proteins in the turtle cochlea.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Lighting up the senses: FM1-43 loading of sensory cells through nonselective ion channels.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Ca2+ regulation of Drosophila phototransduction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

FM1-43 dye behaves as a permeant blocker of the hair-cell mechanotransducer channel.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Plasma membrane Ca2+-ATPase isoform 2a is the PMCA of hair bundles.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

A new visualization approach for identifying mutations that affect differentiation and organization of the Drosophila ommatidia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

The endogenous calcium buffer and the time course of transducer adaptation in auditory hair cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Oncomodulin is expressed exclusively by outer hair cells in the organ of Corti

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Calcium imaging of single stereocilia in hair cells: localization of transduction channels at both ends of tip links

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Calmodulin and calmodulin-binding proteins in hair bundles

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Identification and ultrastructural localization of a calretinin-like calcium-binding protein (protein 10) in the guinea pig and rat inner ear.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Hair-bundle mechanics and a model for mechanoelectrical transduction by hair cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Prospero and Pax2 combinatorially control neural cell fate decisions by modulating Ras- and Notch-dependent signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Acetylcholine, outer hair cell electromotility, and the cochlear amplifier.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Intracellular distributions and putative functions of calcium-binding proteins in the bullfrog vestibular otolith organs.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Adaptation of mechanoelectrical transduction in hair cells of the bullfrog's sacculus.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Increasing intracellular free calcium induces circumferential contractions in isolated cochlear outer hair cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

30 May 2018

1 reference

Biochemical characterization and expression analysis of a novel EF-hand Ca2+ binding protein calmyrin2 (Cib2) in brain indicates its function in NMDA receptor mediated Ca2+ signaling.

21 January 2018

1 reference

Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish

21 January 2018

1 reference

Defective calmodulin-dependent rapid apical endocytosis in zebrafish sensory hair cell mutants

21 January 2018

1 reference

Expression of alpha and beta parvalbumin is differentially regulated in the rat organ of corti during development.

21 January 2018

1 reference

Atp2b2, encoding plasma membrane Ca2+-ATPase type 2, (PMCA2) exhibits tissue-specific first exon usage in hair cells, neurons, and mammary glands of mice

21 January 2018

1 reference

Mechanisms of light adaptation in Drosophila photoreceptors

21 January 2018

1 reference

Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants

21 January 2018

1 reference

Helios Gene Gun-mediated transfection of the inner ear sensory epithelium.

21 January 2018

1 reference

Making a better RNAi vector for Drosophila: use of intron spacers

21 January 2018

1 reference

Homothorax switches function of Drosophila photoreceptors from color to polarized light sensors.

21 January 2018

1 reference

ATP-Induced Ca(2+) release in cochlear outer hair cells: localization of an inositol triphosphate-gated Ca(2+) store to the base of the sensory hair bundle.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

Regulation of free Ca2+ concentration in hair-cell stereocilia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501259

CIB1, a ubiquitously expressed Ca2+-binding protein ligand of the InsP3 receptor Ca2+ release channel

29 November 2018

1 reference

12 December 2020

Rapid, active hair bundle movements in hair cells from the bullfrog's sacculus

1 reference

12 December 2020

Plasma membrane Ca2+-ATPase extrudes Ca2+ from hair cell stereocilia

1 reference

12 December 2020

Two distinct Ca(2+)-dependent signaling pathways regulate the motor output of cochlear outer hair cells

1 reference

12 December 2020

Stimulus and recording variables and their effects on mammalian vestibular evoked potentials

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2426

1 reference

Dimensions Publication ID

23 June 2017

1028251481

0 references

OpenCitations bibliographic resource ID

3760247

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference