Search Results - "Press, Eric R"
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1
Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss
Published in The Journal of biological chemistry (09-06-2017)“…Connexin26 (Cx26) is a gap junction protein that oligomerizes in the cell to form hexameric transmembrane channels called connexons. Cell surface connexons…”
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Journal Article -
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Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain
Published in Disease models & mechanisms (01-01-2021)“…Connexin 30 (Cx30; also known as when referring to the mouse gene) is expressed in ependymal cells of the brain ventricles, in leptomeningeal cells and in…”
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Journal Article -
3
The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss
Published in Journal of cell science (16-01-2019)“…Mutations in the genes that encode the gap junction proteins connexin 26 (Cx26, encoded by ) and Cx30 ( ) are the leading cause of hereditary hearing loss…”
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Journal Article -
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Insights into the Role of connexin26 and connexin30 in Skin Health, Syndromic Disease, and Cutaneous Wound Healing
Published 01-01-2016“…Connexin26 (Cx26) and Cx30 facilitate gap junctional intercellular communication (GJIC) in the epidermis and are linked to several syndromic skin diseases. We…”
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Dissertation