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two novel mutations in the WHRN and TMC1 (zeige TMC1 Antikörper) genes are responsible for founder effects of hereditary hemochromatosis (zeige HFE Antikörper), Wilson s disease, the long QT syndrome and autosomal recessive deafness in a Swedish pedigree
Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G (zeige USH1G Antikörper) severely affect formation of the SANS (zeige USH1G Antikörper)/ush2a (zeige USH2A Antikörper)/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS (zeige USH1G Antikörper) scaffold function. We conclude that USH1 and USH2 (zeige USH2A Antikörper) proteins function together in higher order protein complexes.
Data indicate that that CIB2 (zeige CIB2 Antikörper) localizes to stereocilia and interacts with the USH proteins myosin VIIa (zeige MYO7A Antikörper) and whirlin, suggesting CIB2 (zeige CIB2 Antikörper) is a Ca2 (zeige CA2 Antikörper)+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells.
In Spain, USH2A (zeige USH2A Antikörper) 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 (zeige USH2A Antikörper), GPR98, or DFNB31 account for the vast majority of USH2 (zeige USH2A Antikörper) 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 (zeige INADL Antikörper) 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 (zeige INADL Antikörper) molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
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 (zeige TRPV1 Antikörper) are associated in a subset of nociceptors and that TRPV1 (zeige TRPV1 Antikörper) protein stability is increased through the interaction with the cytoskeletal scaffold protein (zeige HOMER1 Antikörper).
This study showed here that Whirlin/Deafness autosomal recessive 31 (DFNB31), a PDZ (zeige INADL Antikörper)-scaffold protein (zeige HOMER1 Antikörper) 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 (zeige MYO15 Antikörper) is a motor protein (zeige MYO7A Antikörper) that, in vivo, interacts with the third PDZ domain (zeige INADL Antikörper) of whirlin through its carboxy-terminal PDZ (zeige INADL Antikörper)-ligand. Myosin-XVa (zeige MYO15 Antikörper) 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