Expanding the mutation and clinical spectrum of Roberts syndrome.
Cairo, Egypt. In Congenit Anom (kyoto), Jan 2016
UNASSIGNED: Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene.
Evaluation of oxidative stress in patients with acute ischemic stroke.
Bucureşti, Romania. In Rom J Intern Med, 2013
Malondialdehyde (MDA), plasma glutathione, plasma glutathione peroxidase (GPX), catalase (CAT), uric acid, bilirubin, plasma superoxide dismutase (SOD), red blood cells superoxide dismutase (RBS SOD) (spectrophotometric assay), total antioxidant capacity (TAC) (enhanced chemiluminescence), ceruloplasmin, C-reactive protein (CRP), albumin, transferrin (nephelometric assay) were performed in 57 patients (mean age 73.4 +/- 6.5 years) with acute ischemic stroke within 24 hours and at 7 days after stroke onset as compared to 51 age-and sex-matched controls.
Cohesinopathies of a feather flock together.
Bethlehem, United States. In Plos Genet, 2012
Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects.
A child with Roberts syndrome.
Lahore, Pakistan. In J Coll Physicians Surg Pak, 2011
the ESCO2 gene mutation responsible for developmental abnormalities maps to chromosome 8p21.
Cohesin acetylation speeds the replication fork.
New York City, United States. In Nature, 2009
Unexpectedly, we discovered that cohesin acetylation itself is a central determinant of fork processivity, as slow-moving replication forks were found in cells lacking the Eco1-related acetyltransferases ESCO1 or ESCO2 (refs 8-10) (including those derived from Roberts' syndrome patients, in whom ESCO2 is biallelically mutated) and in cells expressing a form of SMC3 that cannot be acetylated.