PMP22, MPZ, MFN2, GDAP1, NEFL, CX32
, MYH14, LMNA, TRPV4, LITAF.
Downregulation of oligodendrocytic Cx32
, Cx47, and astrocytic Cx43 had been identified in the active lesions of CNS in MS patients and EAE mice [88-90].
pylori-associated gastric cancer in our previous findings, which was explained by the decreased Cx32
and Cx43 expression and disordered gap junction in vitro and in vivo .
Yoshihara et al., "Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32
): a clinicopathological study of 205 Japanese patients," Brain, vol.
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.
MECP2-deficient microglia release excess glutamate, in vitro, via connexin 32 (Cx32
) hemichannel-mediated release, as a consequence of enhanced glutaminase expression .
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.
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).
Following treatment of cells with VK(2), there was an increase in gap junctional intercellular communication activity, accompanied by up-regulation of connexin 32 (Cx32
), dominantly expressed in normal hepatocyte.
To evaluate the expression of Cx26, Cx32
, Cx37 and Cx43 during the periovulatory period, ovaries were collected from ewes (n = 5-7/group) injected twice daily with follicle stimulating hormone (FSH) on days 13 and 14 of the estrous cycle, and with FSH and human chorionic gonadotropin (hCG; ovulatory dose) on the morning of day 15 of the estrous cycle.
Candidate genes are going to be tested according to the phenotype; the duplication in chromosome 17, and mutations in PMP22, Cx32
and MPZ, as well as in other genes will be searched.