The Subtlety of 22q11.2 Deletion Syndrome in a Preterm Neonate.

To date, 22q11.2 deletion syndrome (DS) is regarded as the most commonly diagnosed DS in humans. The location of the deletion on chromosome 22 affects the phenotypic presentation, which ranges from subtle to severe.

Torsional Profiles of Thiophene and Furan Oligomers: Probing the Effects of Heterogeneity and Chain Length.

A systematic analysis of the torsional profiles of 55 unique oligomers composed of two to four thiophene and/or furan rings ( = 2 to 4) has been conducted using three density functional theory (DFT) methods along with MP2 and three different coupled-cluster methods. Two planar or quasi-planar minima were identified for each = 2 oligomer system. In every case, the torsional angle (τ) between the heteroatoms about the carbon-carbon bond connecting the two rings is at or near 180° for the global minimum and 0° for the local minimum, referred to as and conformations, respectively.

High-sucrose-induced maternal obesity disrupts ovarian function and decreases fertility in Drosophila melanogaster.

As the obesity epidemic worsens, the prevalence of maternal obesity is expected to rise. Both high-fat and high-sucrose diets are known to promote maternal obesity and several studies have elucidated the molecular influence of high-fat feeding on female reproduction. However, to date, the molecular impact of a high-sucrose diet on maternal obesity remains to be investigated.

ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis.

Menkes disease (MD) is a neurodegenerative disorder caused by mutations in the copper transporter, ATP7A, a P-type ATPase. We previously used the olfactory system to demonstrate that ATP7A expression is developmentally, not constitutive, regulated, peaking during synaptogenesis when it is highly expressed in extending axons in a copper-independent manner. Although not known to be associated with axonal functions, we explored the possibility that the inability of mutant ATP7A to support axon outgrowth contributes to the neurodegeneration seen in MD.

The developmentally regulated expression of Menkes protein ATP7A suggests a role in axon extension and synaptogenesis.

Menkes disease (MD) is a neurodegenerative disorder caused by mutation of the copper transporter ATP7A. While several enzymes expressed in mature neurons require copper, MD neurodegenerative changes cannot be explained by known requirements for ATP7A in neuronal development. To investigate additional roles for ATP7A during development, we characterized its pattern of expression using the olfactory system as a neurodevelopmental model.