نتایج جستجو برای: connexin 26
تعداد نتایج: 167621 فیلتر نتایج به سال:
Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. ...
Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...
Tumors adapt their phenotypes during growth and in response to therapies through dynamic changes in cellular processes. Connexin proteins enable such dynamic changes during development, and their dysregulation leads to disease states. The gap junction communication channels formed by connexins have been reported to exhibit tumor-suppressive functions, including in triple-negative breast cancer ...
cells of primordial, primary, secondary and antral follicles. Connexin 26 expression in antral follicles was decreased by R diet. The expression of Cx43 in granulosa cells of primary and granulosa and theca layers of antral follicles was increased by HSe in M diet. Thus, maternal diet affected Cx26 and Cx43 expression, and connexins may be differentially involved in regulation of fetal ovarian ...
Gap-junctional channels (connexin oligomers) are large-diameter aqueous pores formed by head-to-head association of two gap-junctional hemichannels, one from each of the adjacent cells. Profound hearing loss of genetic origin is common, and mutations of connexin 26 (Cx26) are the most frequent cause of this disorder. The Cx26 R75W mutant has been associated with disruption of cell-to-cell commu...
The subcellular distributions and co-associations of the gap junction-forming proteins connexin 47 and connexin 32 were investigated in oligodendrocytes of adult mouse and rat CNS. By confocal immunofluorescence light microscopy, abundant connexin 47 was co-localized with astrocytic connexin 43 on oligodendrocyte somata, and along myelinated fibers, whereas connexin 32 without connexin 47 was c...
14 Running title: Connexin 40 and tubuloglomerular feedback 15 16 Send all correspondence to: 17 Jurgen Schnermann, MD. 18 National Institute of Diabetes and Digestive and Kidney Diseases 19 National Institutes of Health 20 Building 10, Room 4D51 21 9000 Rockville Pike 22 Bethesda. MD 20892, USA 23 (Tel) 1-301-435-6580 24 (Fax) 1-301-435-6587 25 (E-mail)[email protected] 26 Abstract 2...
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