Deafness‐Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment
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DOI: 10.1002/advs.202205993
Abstract: The ankle‐link complex (ALC) consists of USH2A, WHRN, PDZD7, and ADGRV1 and plays an important role in hair cell development. At present, its architectural organization and signaling role remain unclear. By establishing Adgrv1 Y6236fsX1 mutant… read more here.
Keywords: deafness associated; alc; stability; mutation ... See more keywords
The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide
Sign Up to like & getrecommendations! Published in 2022 at "Ear and Hearing"
DOI: 10.1097/aud.0000000000001274
Abstract: Objectives: Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds.… read more here.
Keywords: common deafness; associated variants; deafness associated; population ... See more keywords
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature
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DOI: 10.1111/jns.12310
Abstract: Neurofilaments are neuron‐specific intermediate filaments essential for the radial growth of axons during development and the maintenance of axonal diameter. Pathogenic variants of Neurofilament Light (NEFL) are associated with CMT1F, CMT2E, and CMTDIG and have… read more here.
Keywords: nefl responsible; deafness associated; pathogenic variant; variant nefl ... See more keywords