Chromosome 15q13-q14 harbours the gene for the alpha7 nicotinic acetylcholine receptor subunit (CHRNA7) and a related gene (CHRFAM7A) which arises from a partly duplicated portion of CHRNA7. Recent evidence suggests that CHRFAM7A is a locus with a possible role in schizophrenia and cognitive functioning. We studied an antisaccade task as a fronto-parietal measure of executive function that refl...

Alveolar rhabdomyosarcoma, a malignant tumor of skeletal muscle, is characterized by a chromosomal translocation, t(2;13)(q35;q14). This translocation is associated with a structural rearrangement of the gene encoding PAX3, a presumed transcriptional regulator expressed exclusively during embryogenesis. The breakpoint results in a fusion between PAX3 and a gene provisionally named ALV, a novel ...

In this paper, a dynamic terms of sale model is developed which suggests deep cash discounts can be partially explained by the positive relationship between the shadow value of sales and the optimal cash discount. The effect of sales volume uncertainty on the magnitude of cash discounts is also explored. Numerical results suggest the relationship between uncertainty and cash discounts is nonlin...

We analyze the effect various delivery options embedded in commodity futures contracts have on the futures price. The two embedded options considered are the timing and location options. We show that early delivery is always optimal when only a timing option is present, but not so with joint options. The estimates of the combined options are much smaller than the comparable estimates for the ti...

Fluorescent in situ hybridization (FISH) analysis with a panel of DNA probes for 13q13.1-q14.3 was performed on 20 cases of myeloid malignancies, of which 17 showed a del(13)(q) and three had translocations affecting 13q. By chromosome morphology, deletions consistently involved bands q14 and q21. In addition to confirming the chromosome data, FISH allowed us to delineate a commonly deleted reg...

Phosphatidylinositol binding clathrin assembly protein (PICALM), also known as clathrin assembly lymphoid myeloid leukemia protein (CALM), was originally isolated as part of the fusion gene CALM/AF10, which results from the chromosomal translocation t(10;11)(p13;q14). CALM is sufficient to drive clathrin assembly in vitro on lipid monolayers and regulates clathrin-coated budding and the size an...

Several genome-wide linkage scans have been carried out to identify quantitative trait loci for type 2 diabetes and related metabolic phenotypes. However, no previous linkage scans have focused on the response to exercise training of relevant metabolic traits. We performed a genome-wide linkage scan for baseline fasting glucose, insulin, and C-peptide and their responses to a 20-week exercise t...

This paper reports a case of partial trisomy involving the proximal segment of the long arm of chromosome 13. Kleeblattschädel anomaly was one of the many anomalies found in conjunction with this syndrome. The cytogenetic classification of the extra partial chromosome was based on trypsin-giemsa banding patterns and a paternal translocation involving chromosomes 3 and 13.

Analytical method validation ensures that a provides trustworthy information about particular sample when applied in accordance with the predefined protocol. According to regulatory standards, rheological characteristics of topically semisolid formulations are one key elements involved microstructure equivalence documentation. Therefore, for generic drug product manufacturers, it is dire need t...