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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 20 Nov 2014.

Whirlin

whirlin, DFNB31, CIP98, USH2D, Whrn
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: HAIR, Actin, CAN, USH1C, HAD
Papers on whirlin
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
New
Millán et al., In Orphanet J Rare Dis, 18 Dec 2014
Consequently, the aim of the present study was to develop a molecular diagnostics method for Usher syndrome, based on targeted next generation sequencing.MethodsA custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.
Whirlin and PDZ Domain Containing 7 (PDZD7) Proteins are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2.
New
Yang et al., United States. In J Biol Chem, 18 Dec 2014
USH2A, GPR98 and WHRN are three known causative genes of USH2, while PDZD7 is a modifier gene found in USH2 patients.
Regulation of synaptic development and function by the Drosophila PDZ protein Dyschronic.
New
Koh et al., Philadelphia, United States. In Development, 30 Nov 2014
DYSC is the Drosophila homolog of whirlin/DFNB31, a PDZ domain protein linked to Usher syndrome, the most common form of human deaf-blindness.
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.
New
Yang et al., Salt Lake City, United States. In Hum Mol Genet, Jun 2014
PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently reported to be implicated in USH2 and non-syndromic deafness.
Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration.
New
Peng et al., Omaha, United States. In Exp Eye Res, Jan 2014
Mutations in the whirlin gene (DFNB31/WHRN) cause a subtype of Usher syndrome (USH2D).
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.
New
Al-Gazali et al., Al `Ayn, United Arab Emirates. In Mol Biol Rep, Jan 2014
Moreover, some individuals from the Palestinian family also harbored a novel heterozygous truncating variant (c.1267C>T/p.R423X) in the DFNB31 gene, which is involved in autosomal recessive nonsyndromic deafness type DFNB31 and Usher syndrome type II.
Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models.
New
Rehman et al., Faisalābād, Pakistan. In Bioinformation, Dec 2013
CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic deafness.
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
Review
New
Wolfrum et al., Mainz, Germany. In Adv Exp Med Biol, Dec 2013
All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G).
The actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells.
New
Brown et al., Sheffield, United Kingdom. In Plos One, Dec 2013
Gelsolin is part of a whirlin scaffolding protein complex at the stereocilia tip, which has been shown to interact with other actin regulatory molecules such as Eps8.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
New
Rivolta et al., Lausanne, Switzerland. In Proc Natl Acad Sci U S A, Nov 2013
We detected homozygous or compound heterozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans.
Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons.
Bhat et al., Chapel Hill, United States. In Bmc Neurosci, 2012
Whirlin (Whrn) is a PDZ domain-containing cytoskeletal scaffold whose absence in humans results in Usher Syndromes or variable deafness-blindness syndromes.
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
Roux et al., Montpellier, France. In Mol Vis, 2012
To date, three disease-causing genes have been identified, USH2A, GPR98, and DFNB31, of which USH2A is clearly the major contributor.
Non-USH2A mutations in USH2 patients.
GeneRIF
Roux et al., Montpellier, France. In Hum Mutat, 2012
Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis.
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8.
GeneRIF
Kachar et al., Bethesda, United States. In Curr Biol, 2011
It was concluded that MyoXVa, whirlin, and Eps8 are integral components of the stereocilia tip complex, where Eps8 is a central actin-regulatory element for elongation of the stereocilia actin core.
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
GeneRIF
Zeitz et al., Paris, France. In Mol Vis, 2010
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
GeneRIF
Millán et al., Valencia, Spain. In Mol Vis, 2009
DFNB31 is not a major cause of Usher syndrome.
Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
GeneRIF
Kusunoki et al., Tsu, Japan. In Int J Oncol, 2009
Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
The role of the MAGUK protein CASK in neural development and synaptic function.
Review
Hsueh, Taipei, Taiwan. In Curr Med Chem, 2005
These proteins, whose interactions with CASK are reviewed here, include the Parkinson's disease molecule parkin, the adhesion molecule neurexin, syndecans, calcium channel proteins, the cytoplasmic adaptor protein Mint1, Veli/mLIN-7/MALS, SAP97, caskin and CIP98, transcription factor Tbr-1, and nucleosome assembly protein CINAP.
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
Impact
GeneRIF
Friedman et al., Rockville, United States. In Nat Cell Biol, 2005
myosin-XVa is a motor protein that, in vivo, interacts with the third PDZ domain of whirlin through its carboxy-terminal PDZ-ligand. Myosin-XVa then delivers whirlin to the tips of stereocilia.
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Impact
GeneRIF
Brown et al., United Kingdom. In Nat Genet, 2003
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
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