The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together these findings suggest that binding to PDZ domains such as those from USH1C PDZD7 and Whirlin is a common property of CMFs of Myo7a Myo7b and Myo15a.
In summary our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2.
We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease.
harmonin and villin autoantibodies are sensitive and specific markers of IPEX differentiate IPEX including atypical cases from other early childhood disorders associated with enteropathy
We localized proteins encoded by the top two regulated genes TBL1X and USH1C using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.
Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia
We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene.
The structures of the harmonin N-domain alone and in complex with the cadherin 23 internal peptide fragment uncovered the detailed binding mechanism of this interaction between harmonin and cadherin 23.
The c.216G>A mutation within the USH1C gene has been linked to a founder effect within the French Canadian population of Quebec associated with deafblindness.
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