Connexin hemichannels in the lens.
Chicago, United States. In Front Physiol, 2013
The normal function and survival of cells in the avascular lens is facilitated by intercellular communication through an extensive network of gap junctions formed predominantly by three connexins (Cx43, Cx46, and Cx50).
GABRB3, Epilepsy, and Neurodevelopment
Bethesda, United States. In Unknown Journal, 0001
In human, three different point mutations in exon 1A, coding the signal peptide and exon 2 of GABRB3, segregate with childhood absence epilepsy (CAE), and result in decreased neuronal GABA currents, Three neurological disorders, Rett syndrome, (a deficiency of MeCP2), Angelman syndrome, and autism, each exhibit reduced expression of GABRB3 and UBE3A, along with mental retardation and epilepsy.