COCKAYNE SYNDROME: ROLE OF GENETIC COUNSELLING.
In J Ayub Med Coll Abbottabad, Jul 2015
Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals.
From laboratory tests to functional characterisation of Cockayne syndrome.
Pavia, Italy. In Mech Ageing Dev, 2013
Furthermore, we provide a general overview of recent in vivo and in vitro studies indicating that both CSA and CSB proteins are involved in distinct aspects of the cellular responses to UV and oxidative stress, transcription and regulation of gene expression, chromatin remodelling, redox balance and cellular bioenergetics.