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Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
TLDR
A synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler) is found.
Acoustic startle and prepulse inhibition in 40 inbred strains of mice.
TLDR
The data on both the ASR and PPI had high internal and test-retest reliability and showed large differences among inbred strains, indicative of strong genetic influences.
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.
TLDR
The Ush1c mutant mice described here provide a means to directly investigate protein interactions in vivo and to evaluate gene structure-function relationships that affect inner ear and eye phenotypes, as well as to mapped two new recessive mutations causing circling behavior and deafness to the same region on chromosome 7.
The R109H Variant of Fascin-2, a Developmentally Regulated Actin Crosslinker in Hair-Cell Stereocilia, Underlies Early-Onset Hearing Loss of DBA/2J Mice
The quantitative trait locus ahl8 is a key contributor to the early-onset, age-related hearing loss of DBA/2J mice. A nonsynonymous nucleotide substitution in the mouse fascin-2 gene (Fscn2) is
The Chloride Intracellular Channel Protein CLIC5 Is Expressed at High Levels in Hair Cell Stereocilia and Is Essential for Normal Inner Ear Function
TLDR
Results suggest that CLIC5 associates with radixin in hair cell stereocilia and may help form or stabilize connections between the plasma membrane and the filamentous actin core.
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