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.

Cellular localization of the K -dependent Na -Ca exchanger NCKX5 and the role of the cytoplasmic loop in its distribution in pigmented cells.

NCKX5 is a bidirectional K -dependent Na -Ca exchanger, which belongs to the SLC24A gene family. In particular, the A111T mutation of NCKX5 has been associated with reduced pigmentation in European populations. In contrast to other NCKX isoforms, which function in the plasma membrane (PM), NCKX5 has been shown to localize either in the trans-Golgi network (TGN) or in melanosomes.

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

K-dependent Na-Ca exchangers (NCKXs) play an important role in Ca homeostasis in many tissues. NCKX proteins 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 carried out scanning mutagenesis of all the residues of the highly conserved α-1 and α-2 repeats of NCKX2 to identify residues important for K transport.

ATP triggers a robust intracellular [Ca ]-mediated signalling pathway in human synovial fibroblasts.

New Findings: What is the central question of this study? What are the main [Ca ] signalling pathways activated by ATP in human synovial fibroblasts? What is the main finding and its importance? In human synovial fibroblasts ATP acts through a linked G-protein (G ) and phospholipase C signalling mechanism to produce IP , which then markedly enhances release of Ca from the endoplasmic reticulum. These results provide new information for the detection of early pathophysiology of arthritis.

Abstract: In human articular joints, synovial fibroblasts (HSFs) have essential physiological functions that include synthesis and secretion of components of the extracellular matrix and essential articular joint lubricants, as well as release of paracrine substances such as ATP.

A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

K(+)-dependent Na(+)/Ca(2+) exchangers belong to the solute carrier 24 (SLC24A1-5) gene family of membrane transporters. Five different gene products (NCKX1-5) have been identified in humans, which play key roles in biological processes including vision, olfaction, and skin pigmentation. NCKXs are bi-directional membrane transporters that transport 1 Ca(2+)+K(+) ions in exchange for 4 Na(+) ions.

Cation dependencies and turnover rates of the human K⁺-dependent Na⁺-Ca²⁺ exchangers NCKX1, NCKX2, NCKX3 and NCKX4.

The Solute Carrier Family 24 (SLC24) belongs to the CaCA super family of Ca(2+)/cation antiporters and codes for five different K(+)- dependent Na(+)- Ca(2+) exchangers (NCKX1-5). NCKX proteins play a critical role in Ca(2+) homeostasis in a wide variety of biological processes such as vision, olfaction, enamel formation, Melanocortin-4-receptor-dependent satiety and skin pigmentation. NCKX transcripts are widely found throughout the brain.

The SLC24 family of K⁺-dependent Na⁺-Ca²⁺ exchangers: structure-function relationships.

The human SLC24 gene family contains five members encoding the NCKX1-5 proteins that function as K(+)-dependent Na⁺-Ca²⁺ exchangers. NCKX proteins have been shown to play critical roles in retinal rod and cone photoreceptors, olfactory neurons, epidermal melanocytes, and the retinal pigment epithelium. NCKX transcripts are also found in many other tissues, in particular throughout the brain, but their specific physiological roles yet need to be elucidated in most cases.

Sequential expression of IGF-IB followed by active TGF-β1 induces synergistic pulmonary fibroproliferation in vivo.

Pulmonary fibrosis, the end stage of a variety of fibroproliferative lung diseases, is usually induced after repetitive or chronic lung injury or inflammation. The mechanisms of fibroproliferation are poorly understood. Insulin-like growth factor-I (IGF-I) is significantly elevated in patients with pulmonary fibrosis and fibroproliferative acute respiratory distress syndrome.

A novel patatin-like protein from cotton plant, GhPat1, is co-expressed with GhLox1 during Xanthomonas campestris-mediated hypersensitive cell death.

In cotton plant, Xanthomonas-induced hypersensitive response (HR) is accompanied by a lipid peroxidation process involving a 9-lipoxygenase (LOX), GhLox1. Initiation of this oxidative metabolism implies the release of the LOX substrates, or polyunsaturated fatty acids. Since patatin-like proteins (PLPs) are likely candidates for mediating the latter step, we searched for genes encoding such enzymes, identified and cloned one of them that we named GhPat1.

The 9-lipoxygenase GhLOX1 gene is associated with the hypersensitive reaction of cotton Gossypium hirsutum to Xanthomonas campestris pv malvacearum.

Hypersensitive reaction (HR) cell death of cotton to the incompatible race 18 from Xanthomonas campestris pathovar malvacearum (Xcm) is associated with 9S-lipoxygenase activity (LOX) responsible for lipid peroxidation. Here, we report the cloning of cotton (Gossypium hirsutum L.) LOX gene (GhLOX1) and the sequencing of its promoter.

Occupational asthma, work-related asthma and reactive airways dysfunction syndrome.

Purpose Of Review: Over the past twenty years, work-related asthma has been increasingly recognized to focus on three entities; occupational asthma, work-aggravated asthma, and reactive airways disease syndrome. Of these three entities, work-aggravated asthma has been recently identified to be important in worker health, but little is known about its impact on worker health.

Recent Findings: In this review, it is our intent to summarize the different 'types' of work-related asthma and to emphasize what is known about the outcomes of these three types, with emphasis on work-aggravated asthma.

Resistance of cotton towards Xanthomonas campestris pv. malvacearum.

Interactions between Gossypium spp. and the bacterial pathogen Xanthomonas campestris pv. malvacearum are understood in the context of the gene-for-gene concept.

Activity of class III peroxidases in the defense of cotton to bacterial blight.

Cotton cotyledons displayed a hypersensitive reaction (HR) in the cultivar Réba B50 after infiltration with the avirulent race 18 from Xanthomonas campestris pv. malvacearum. Two sets of peroxidases were associated with the HR time course.

Lipid peroxidation in cotton: Xanthomonas interactions and the role of lipoxygenases during the hypersensitive reaction.

Lipid peroxidation, often associated with hypersensitive cell death, may be initiated either by active oxygen species (AOS) or lipoxygenases (LOX). Here we report a detailed analysis of this oxidative process in both incompatible and compatible interactions between the cotton cultivar Reba B50 and Xanthomonas campestris pv. malvacearum (Xcm).

Salicylic acid mediated by the oxidative burst is a key molecule in local and systemic responses of cotton challenged by an avirulent race of Xanthomonas campestris pv malvacearum.

We analyzed the production of reactive oxygen species, the accumulation of salicylic acid (SA), and peroxidase activity during the incompatible interaction between cotyledons of the cotton (Gossypium hirsutum) cv Reba B50/Xanthomonas campestris pv malvacearum (Xcm) race 18. SA was detected in petioles of cotyledons 6 h after infection and 24 h post inoculation in cotyledons and untreated leaves. The first peak of SA occurred 3 h after generation of superoxide (O(2)(.