In addition, repeated seizures can induce changes in different Cx gene (
Cx26, 32, and 43) expression during the postnatal development, especially gradually elevated expression of Cx43 and GJIC remodeling [118] (Table 3).
The effect of the mutation at the protein level is occurence of a nonfunctional
Cx26 protein composed of 12 amino acids instead of a normal protein composed of 226 amino acids (p.G12Vfs*2) (15).
Sulkowski, "Eventual proapoptotic or anti-apoptotic impact of aberrantly expressed Cx43 and
Cx26 can depend on ER-alpha overexpression in human endometrioid adenocarcinoma," Gynecological Endocrinology, vol.
GJB2 encodes the gap junction protein Connexin 26 (
CX26), which is expressed in the cochlea and plays an important role in endolymphatic potassium recycling.
To date, at least 15 connexin genes have been reported in mammals, and seven genes (
Cx26, Cx30, Cx32, Cx37, Cx43, Cx45, and Cx60) are expressed in the ovary.
Verselis, "Differentially altered [Ca.sup.2+] regulation and [Ca.sup.2+] permeability in
Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome," Journal of General Physiology, vol.
Connexins
CX26, CX32, and CX43, that form gap junctions and provide long range cell signaling within epithelia, appear down-regulated as the expression profiles of three malignant odontogenic tumors with those of the three benign ameloblastomas.
Mo lecular studies in the GJB2 gene (
Cx26) among a deaf population from Bogota, Colombia: results of a screening program.
Cx43 was not detected at the thecal cell layer or at the border between GCs and oocytes where
Cx26 and Cx32 were found to be predominant, respectively (data not shown).
Ja foram descritas mais de cem mutacoes no gene GJB2 da
Cx26, tendo a maioria delas expressao na coclea.
This study utilized reverse-transcriptase real-time polymerase chain reaction to investigate the level of
Cx26 mRNA within GT1-7 cells after passaging.