Cockayne syndrome (CS) is a multisystem degenerative disorder divided in 3 overlapping subtypes, with continuous phenotypic spectrum: CS2 being the most severe form, CS1 classical form and CS3 late-onset form. Failure to thrive growth difficulties are among consistent features of CS, leaving affected individuals vulnerable numerous medical complications, including adverse effects undernutrition...

In two experiments, the pattern of persistence of negative priming effects across delay intervals of 500 and 2,500 msec was assessed using a within-subjects, random sequencing of delays. Neill and Valdes (1992; Neill, Valdes, Terry, & Gorfein, 1992) have argued that a within-subject experimental design is required for decay of negative priming to be seen, in contrast to results reported elsewhe...

Cockayne syndrome type B ATPase (CSB) belongs to the SwItch/Sucrose nonfermentable family. Its mutations are linked to Cockayne syndrome phenotypes and classically are thought to be caused by defects in transcription-coupled repair, a subtype of DNA repair. Here we show that after UV-C irradiation, immediate early genes such as activating transcription factor 3 (ATF3) are overexpressed. Althoug...

Cerebro-oculo-facio-skeletal syndrome (COFSS) is a recessively inherited neurodegenerative disorder. We describe an 8 months old Saudi girl, a product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg. She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures. G...

A small proteoglycan that contains only a single dermatan sulfate chain is the main proteoglycan synthesized by skin fibroblasts. Fibroblasts from a patient with progeroidal appearance and symptoms of the Ehlers-Danlos syndrome have a reduced ability of converting the core protein of this proteoglycan into a mature glycosaminoglycan chain-bearing species. This abnormality is the consequence of ...