Deafness-related protein PDZD7 forms complex with the C-terminal tail of FCHSD2
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DOI: 10.1042/bcj20220147
Abstract: In cochlea, deafness-related protein PDZD7 is an indispensable component of the ankle link complex, which is critical for the maturation of inner-ear hair cell for sound perception. Ankle links, connecting the different rows of cochlear… read more here.
Keywords: related protein; deafness related; protein pdzd7; pdzd7 ... See more keywords
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans
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DOI: 10.3390/ijms20174174
Abstract: PDZD7, a PDZ domain-containing scaffold protein, is critical for the organization of Usher syndrome type 2 (USH2) interactome. Recently, biallelic PDZD7 variants have been associated with autosomal-recessive, non-syndromic hearing loss (ARNSHL). Indeed, we identified novel,… read more here.
Keywords: founder effect; arg164trp; pdzd7; hearing ... See more keywords