Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. (Q30667428)

12 August 2017

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. (English)

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12 August 2017

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Pranav Dinesh Mathur

1

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12 August 2017

Junhuang Zou

2

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12 August 2017

Tihua Zheng

3

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12 August 2017

Ali Almishaal

4

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12 August 2017

Yong Wang

5

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12 August 2017

Qian Chen

6

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12 August 2017

Le Wang

7

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12 August 2017

Deepti Vashist

8

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12 August 2017

Steve Brown

9

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12 August 2017

Albert Park

10

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12 August 2017

Jun Yang

11

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12 August 2017

24 August 2015

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12 August 2017

Human Molecular Genetics

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12 August 2017

24

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12 August 2017

6213-6228

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12 August 2017

21

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describes a project that uses

12 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4599678/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.

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Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

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Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2

20 June 2018

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Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

20 June 2018

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Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice

20 June 2018

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

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Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network

20 June 2018

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RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms

20 June 2018

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Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.

20 June 2018

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A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

20 June 2018

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Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8

20 June 2018

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Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors

20 June 2018

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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

20 June 2018

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Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss

20 June 2018

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Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments

20 June 2018

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Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia

20 June 2018

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Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants

20 June 2018

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Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

20 June 2018

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The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development

20 June 2018

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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

20 June 2018

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

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

20 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B

20 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599678

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

20 June 2018

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Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV339

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

21 January 2018

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Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV339

Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23).

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV339

Non-USH2A mutations in USH2 patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26307081

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26307081

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDV339

1 reference

12 August 2017

1 reference

12 August 2017

1 reference