Although children born with severe homocystinurea (i.e. cystathionine beta synthase homozygote knockout, CBS-/-) develop deleterious vascular complications with structural malformation and do not live past teenage, the heterozygote (CBS-/+) lives with apparently normal phenotype. Interestingly, this differential role of CBS expression in vascular remodeling is unclear. Peroxisome proliferator a...

BACKGROUND AND OBJECTIVES A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this mutation as a candidate risk factor for venous thrombosis. DESIGN AND METHODS The prevalence of the 844ins68 CBS mutation was determined in 101 patients with objectively diagn...

Missense mutations in the cystathionine beta-synthase (CBS) gene are the most common cause of clinical homocystinuria in humans. The p.S466L mutation was identified in a homocystinuric patient, but enzymatic studies with recombinant protein show this mutant to be highly active. To understand how this mutation causes disease in vivo, we have created mice lacking endogenous mouse CBS and expressi...

Compared to its status as an experimental model system and importance to industry, the ecology and genetic diversity of the genus Saccharomyces has received less attention. To investigate systematically the biogeography, community members and habitat of these important yeasts, we isolated and identified nearly 600 yeast strains using sugar-rich enrichment protocols. Isolates were highly diverse...

Purpose We investigate the prevalence of the Charles Bonnet syndrome (CBS) in patients with neovascular age-related macular degeneration (AMD) and analyze the role of oral proton pump inhibitors (PPIs) and other potential risk factors. Methods A total of 510 consecutive patients with neovascular-AMD followed at a single tertiary center in Portugal were screened for CBS. Using a structured que...

BACKGROUND In order to correctly assess the efficacy of therapy or diet in intervention studies on the activity of cystathionine β-synthase (CBS) a sensitive analytical method is necessary. METHODS An electrospray LC-MS/MS method preceded by a solid phase extraction step was developed for the measurement of CBS activity in cell extracts. Nonafluoropentanoic acid was used as an ionpair to prov...

BACKGROUND AND PURPOSE Hyperhomocysteinemia is an emerging risk factor for stroke, but little is known about effects of hyperhomocysteinemia on cerebral vascular function. We tested the hypothesis that chronic hyperhomocysteinemia in mice causes endothelial dysfunction in cerebral arterioles through a mechanism that involves superoxide. METHODS Mice heterozygous for a targeted disruption of t...

Coiled bodies (CBs) are nuclear organelles whose structures appear to be highly conserved in evolution. In rapidly cycling cells, they are typically located in the nucleoplasm but are often found in contact with the nucleolus. The CBs in human cells contain a unique protein, called p80-coilin. Studies on amphibian oocyte nuclei have revealed a protein within the "sphere" organelle that shares s...

BACKGROUND Postoperative capsular block syndrome (CBS) is a unique and rare complication of continuous curvilinear capsulorhexis (CCC). The purpose of this study was to analyze the clinical characteristics and results of early postoperative CBS. METHODS Patients who developed early postoperative CBS after cataract surgery from October 1998 through September 2002 were retrospectively identifie...

[Pra91, Pra92] develop CBS, a CCS-like calculus [Mil89] where processes communicate by broadcasting values along a single channel. These values are hidden or restricted by translation to noise. This paper types CBS and restricts it to processes with a unique response to each input. Nondeterminism arises only if two processes in parallel both wish to transmit. These restrictions do not reduce th...