Two allelic variants of the delta opioid receptor gene, distinguished by a single base exchange T to C in codon 307 of the translated region, were detected in humans. The amino acid sequence was thereby not changed. The resulting C and T alleles combined to give the three genotypes CC, CT and TT. Allele C was more frequent in a sample of 103 German… (More)
We present unprecedented, high throughput simulations of cloud cavitation collapse on 1.6 million cores of Sequoia reaching 55% of its nominal peak performance, corresponding to 11 PFLOP/s. The destructive power of cavitation reduces the lifetime of energy critical systems such as internal combustion engines and hydraulic turbines, yet it has been harnessed… (More)
Although highly penetrant alleles of BRCA1 and BRCA2 have been shown to predispose to breast cancer, the majority of breast cancer cases are assumed to result from the presence of low-moderate penetrant alleles and environmental carcinogens. Non-synonymous single nucleotide polymorphisms (nsSNPs) are hypothesised to contribute to disease susceptibility and… (More)
The (beta alpha)(8)-barrel is the most frequent and most versatile fold among enzymes [Höcker et al., Curr. Opin. Biotechnol. 12 (2001) 376-381; Wierenga, FEBS Lett. 492 (2001) 193-198]. Structural and functional evidence suggests that (beta alpha)(8)-barrels evolved from an ancestral half-barrel, which consisted of four (beta alpha) units stabilized by… (More)
Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.