Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?

Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations involving key genes implicated in the stages of Early Embryonic Development. In this context, we report a 10 years old Tunisian patient with these three signs. Our objective is to determine the cause of developmental, behavioral and facial abnormalities in this patient.

Functionalization of Pasteurized Milk Using Rosemary, Thyme, and Ammoides Aqueous Extracts for Better Microbial Quality and an Improved Antioxidant Activity.

This study aimed to evaluate the effects of thyme (Thymus vulgaris L.), rosemary (Rosmarinus officinalis L.), and ammoides (Ammoidespusilla L.

Isolation, identification, and activity evaluation of antioxidant components from Inula viscosa: A bioguided approach.

Oxidative stress is linked to several invasive diseases which causes significant clinical and economic impact, therefore, there is a need to develop new antioxidants. The natural products could play an important role in overcoming the current need. In the present work, the antioxidant bioassay-guided fractionation of the ethanolic extract of Inula viscosa leaves (Asteraceae) was performed using DPPH and ABTS assays affording three known compounds, which were successfully characterized as ilicic acid (1), taxifolin (2) and quercetin (3) based on 1D, 2D NMR.

Structure-function relationships of K-dependent Na/Ca exchangers (NCKX).

K-dependent Na/Ca exchanger proteins (NCKX1-5) of the SLC24 gene family play important roles in a wide range of biological processes including but not limited to rod and cone photoreceptor vision, olfaction, enamel formation and skin pigmentation. NCKX proteins are also widely expressed throughout the brain and NCKX2 and NCKX4 knockouts in mice have specific phenotypes. Here we review our work on structure-function relationships of NCKX proteins.

Residues important for Ca ion transport in the neuronal K-dependent Na-Ca exchanger (NCKX2).

K-dependent Na-Ca exchangers (NCKXs) belong to Ca/cation antiporter gene superfamily. NCKX proteins play an important role in Ca homeostasis and are bi-directional plasma membrane Ca-transporters which utilize the inward Na and outward K gradients to move Ca ions into and out of the cytosol (4Na:1Ca + 1 K). In this study, we examined residues in the two regions with the highest degree of homology between the different NCKX isoforms (α-1 and α-2 repeats) to determine which residues are important for Ca coordination.