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Full-Text Articles in Skin and Connective Tissue Diseases
Functional Analysis Of A Critical Glycine (Glycine 12) In Beta-Type Connexins Of Human Skin, Rasheed Bailey
Functional Analysis Of A Critical Glycine (Glycine 12) In Beta-Type Connexins Of Human Skin, Rasheed Bailey
Biology Theses
At least five beta-type connexins are expressed in various layers of the skin (Cx26, Cx30, Cx30.3, Cx31, and Cx32) and all include a glycine residue at position 12. Glycine12 (G12) is located about halfway through the cytoplasmic amino terminus and has been the focus of several studies related to connexin diseases and gap junction channel structure. The importance of this residue is evident in the severity and diversity of diseases associated with amino acid substitutions at G12 including hereditary forms of skin disease, deafness and neuropathy. This study uses bioinformatic analysis in combination with mutational analysis and electrophysiology to better …
Mutant Cx43 In Skin Differentiation And Disease, Jared M. Churko
Mutant Cx43 In Skin Differentiation And Disease, Jared M. Churko
Electronic Thesis and Dissertation Repository
Connexin43 (Cx43) is expressed within keratinocytes, dermal fibroblasts, and the hair follicle epithelium. Since Cx43 is so widely expressed in resident cells of the skin, we speculated that this connexin would play an essential role in skin homeostasis, hair growth and wound healing. Mutations in the gene which encodes Cx43 lead to a disease called oculodentodigital dysplasia (ODDD) and patients expressing the frame-shift mutants (fs230 or fs260) develop a skin disease called palmar plantar hyperkeratosis. In addition, patients with ODDD often develop hair which is dry, sparse, and slow growing. To study skin abnormalities associated with ODDD, hair growth and …