الصفحة 1
الصفحة 1
Gap Junctions in Development and Disease
Starting with a comprehensive review of the various mouse and human genes encoding the channel-forming protein connexin, further chapters describe the most important connexin mutations that lead to diseases such as hereditary deafness and female infertility in humans. Erroneous signaling mediated via connexin-protein interactions, thought to be responsible for disfunction of organs such as heart, muscle, brain, skin, lens, placenta, and endocrine tissue in mice and men, is also addressed.
Deafness and hearing loss in newborns and children
Hearing loss is one of the most common disabilities and has lifelong consequences for affected children and their families. Consequences of hearing loss in children include worse outcomes in speech, language, education, social functioning, cognitive abilities, and quality of life. Both conductive and sensorineural hearing loss (SNHL) may be caused by a wide variety of congenital and acquired factors. Genetic causes including syndromic and nonsyndromic etiologies...
