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Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa (show MYO7A ELISA Kits) and whirlin, suggesting CIB2 is a Ca2 (show CA2 ELISA Kits)+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells.
In Spain, USH2A (show USH2A ELISA Kits) and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found.
Mutation found in USH2A (show USH2A ELISA Kits), GPR98, or DFNB31 account for the vast majority of USH2 (show USH2A ELISA Kits) patients and their analysis provide a robust pathway for routine molecular diagnosis.
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
DFNB31 is not a major cause of Usher syndrome.
This paper describes a PDZ domain protein (show INADL ELISA Kits) and its role in synaptic transmission in the related rat gene.
This paper concludes that this protein plays a role in photoreceptor and hair cell synapse organization in the related rat gene.
Defects in whirlin, a PDZ domain (show INADL ELISA Kits) molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
analysis of a novel genetic subtype for Usher syndrome, USH2D, which is caused by mutations in whirlin
Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
the major long (WHRN-L) and short (WHRN-S) isoforms of WHRN have distinct localizations within stereocilia and also across hair cell types.
vestibular dysfunction in Dfnb31 mutant mice
disruption of distinct whirlin isoforms by Dfnb31 mutations leads to a variety of phenotype configurations
findings indicate that Whirlin and TRPV1 (show TRPV1 ELISA Kits) are associated in a subset of nociceptors and that TRPV1 (show TRPV1 ELISA Kits) protein stability is increased through the interaction with the cytoskeletal scaffold protein (show HOMER1 ELISA Kits).
This study showed here that Whirlin/Deafness autosomal recessive 31 (DFNB31), a PDZ (show INADL ELISA Kits)-scaffold protein (show HOMER1 ELISA Kits) involved in vestibular and auditory hair cell transduction, is also expressed by proprioceptive sensory neurons (pSNs) in dorsal root ganglia in mice.
Whrn acts as a cytoskeletal linker to ensure proper paranodal compaction and stabilization of the axonal cytoskeleton in myelinated axons.
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.
Whirlin expression is a critical and dynamic organizer for stereocilia elongation and actin polymerization.
myosin-XVa is a motor protein (show MYO7A ELISA Kits) that, in vivo, interacts with the third PDZ domain (show INADL ELISA Kits) of whirlin through its carboxy-terminal PDZ (show INADL ELISA Kits)-ligand. Myosin-XVa then delivers whirlin to the tips of stereocilia.
Whrn connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
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.
deafness, autosomal recessive 31
, CASK-interacting protein CIP98
, autosomal recessive deafness type 31 protein