Two hereditary syndromes characterized by the association of retinal changes and erythrocytic anomalies have been described: (1) Retinopathy complicating haemoglobin anomalies, thalassaemia (Rudd, Evans, and Peeney, 1953), or sickle-cell anaemia (Lieb, Geeraets, and Guerry, 1959); (2) Atypical retinitis pigmentosa with thorny erythrocytes (acanthocytosis: Bassen and Kornzweig, 1950; Kornzweig a...

Two hereditary syndromes characterized by the association of retinal changes and erythrocytic anomalies have been described: (1) Retinopathy complicating haemoglobin anomalies, thalassaemia (Rudd, Evans, and Peeney, 1953), or sickle-cell anaemia (Lieb, Geeraets, and Guerry, 1959); (2) Atypical retinitis pigmentosa with thorny erythrocytes (acanthocytosis: Bassen and Kornzweig, 1950; Kornzweig a...

Many modern games suffer from a trade-off between the degree of interactivity and the dramatic quality of the story. In Facade, an interactive drama system, the player can use natural language input and physical actions to find his way through a domestic quarrel of a couple s/he is friends with. To achieve interactivity and flexibility, the story is structured as a set of beats. Beats are short...

A strategy was developed to extend the lifetime of an peptide-based substrate for Abl kinase in the cytosolic environment. Small β-turn structures were added to the peptide's N-terminus to block entry into peptidase catalytic sites. The influence of the size of the β-turn and two covalent cross-linking strategies on the rate of hydrolysis was assessed. The most peptidase-resistant substrate was...

The concentrations and lipoprotein distributions of apolipoprotein E (apoE) in normal human umbilical cord blood plasma were determined. The mean plasma apoE level of 95 neonates was considerably higher than that of 49 normal adults (58.1 vs 35.8 micrograms/ml). This elevation of apoE levels was in striking contrast to the lower than adult levels of cholesterol (72 mg/dl vs 185 mg/dl), triglyce...

Blood platelets from eight patients with hyperbetalipoproteinemia (type II) were more reactive to aggregating agents in vitro than those of 13 type IV patients or 12 normal subjects. Platelets of two patients with abeta-lipoproteinemia were also slightly hyperreactive in comparison with normal platelets. However, in one patient with Tangier disease the platelets were distinctly hyporeactive to ...

Abetalipoproteinemia, an inherited human disease characterized by a near-complete absence of the apolipoprotein (apo) B-containing lipoproteins in the plasma, is caused by mutations in the gene for microsomal triglyceride transfer protein (MTP). We used gene targeting to knock out the mouse MTP gene (Mttp). In heterozygous knockout mice (Mttp+/- ), the MTP mRNA, protein, and activity levels wer...

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...