Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

Developmental language disorder (DLD) is a neurodevelopmental disorder involving impaired language abilities. Its genetic etiology is heterogeneous, involving rare variations in multiple susceptibility loci. However, family-based studies on gene mutations are scarce.

Evaluation of the Combinatory Anticancer Effect of Chemotherapeutic Compounds and Prodigiosin against HCT-116, LoVo, and A549 Cell lines.

Despite their wide usage in reducing tumors and improving patients' survival, chemotherapeutic drugs or natural compounds are facing the development of cancer resistance. Many experimental data and clinical trials have shown that combinatorial treatment could be an efficient solution for some resistance problems. In this study, we aimed to evaluate the synergistic effects of combining prodigiosin (PG), a natural compound with known anticancer properties, with the commonly used chemotherapy drugs 5-fluorouracil (5-FU), oxaliplatin, and paclitaxel.

Evaluation of N-palmitoylethanolamine (PEA) binding to nuclear receptors through docking and molecular dynamics studies.

N-palmitoylethanolamine (PEA) is an endogenous bioactive compound recognized for its anti-inflammatory effects and its role in tissue protection and repair. Despite the proposal of peroxisome proliferator-activated receptor alpha (PPARα) as a potential receptor for PEA, direct evidence of binding remains insufficient. This study offers a comprehensive analysis of human nuclear receptors (NRs) through structural bioinformatics and molecular docking, evaluating a total of 367 unique NR structures across 47 subfamilies.

Unveiling the impact of selected essential oils on MRSA strain ATCC 33591: antibacterial efficiency, biofilm disruption, and staphyloxanthin inhibition.

This work aimed to evaluate the effects of 4 selected essential oils on planktonic cells and microbial biofilms of the Staphylococcus aureus strain (MRSA ATCC 33591). The antibacterial activities of the four essential oils Geranium (Pelargonium graveolens), PgEO, Tea Tree (Melaleuca alternifolia) MaEO, Lemon peel (Citrus limon) ClEO and Peppermint (Mentha piperita) MpEO had MICs ranging from 1.56 to 12.

A novel perspective on eugenol as a natural anti-quorum sensing molecule against Serratia sp.

Serratia marcescens is commonly noted to be an opportunistic pathogen and is often associated with nosocomial infections. In addition to its high antibiotic resistance, it exhibits a wide range of virulence factors that confer pathogenicity. Targeting quorum sensing (QS) presents a potential therapeutic strategy for treating bacterial infections caused by S.

Expression and characterization of an organic solvent tolerant recombinant lipase from SH6 for food wastewater treatment.

The study illustrated here aims on an organic solvent tolerant lipase from (SCL). The gene part, encoding the mature lipase, was cloned and sequenced. The concluded polypeptide sequence, equivalent to the protein, consist of 388 amino acid residues with a molecular mass of about 45 kDa.

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.

Leigh syndrome (LS) and Leigh-like spectrum are the most common infantile mitochondrial disorders characterized by heterogeneous neurologic and metabolic manifestations. Pathogenic variants in SLC carriers are frequently reported in LS given their important role in transporting various solutes across the blood-brain barrier. SLC19A3 (THTR2) is one of these carriers transporting vitamin-B1 (vitB1, thiamine) into the cell.

Application of Box-Behnken Design in Production of Monoglyceride with Esterification of Glycerol and Oleic Acid.

Monoglyceride MG has a wide function in the food industry, in particular as a natural emulsifier, pharmaceuticals, cosmetics, antioxidant, and antibacterial. Therefore, the production of polyol ester from esterification of acid (OA) and glycerol was investigated. The process optimization was performed using a Box-Behnken design, examining the effects of temperature, molar ratio, and catalyst amount.

Computational identification of new TKI as potential noncovalent reversible EGFR inhibitors: VHTS, molecular docking, DFT study and molecular dynamic simulation.

The mutations concerned with non-small cell lung cancer involving epidermal growth factor receptor of tyrosine kinase family have primarily targeted. In this study, we employed a scalable high-throughput virtual screening (HTVS) framework and a targeted compound library of over 50.000 Erlotinib-derived compounds as noncovalent reversible EGFR inhibitors.

Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma.

Pheochromocytoma and paraganglioma (PPGL), are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Up to about 60% are explained by germline or somatic mutations in one of the major known susceptibility genes e.g.

Case report: Functional analysis of the p.Arg507Trp variant of the gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.

Pathogenic germline variants in the gene are associated with the "multiple congenital anomalies-hypotonia-seizures syndrome 3" (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epilepsy. Recently, a comprehensive analysis of a cohort of 26 patients with variants has broadened the phenotypical spectrum and indicated that both p.

Large-scale analysis of the genome of the rare alkaline-halophilic Stachybotrys microspora reveals 46 cellulase genes.

Fungi are of great importance in biotechnology, for example in the production of enzymes and metabolites. The main goal of this study was to obtain a high-coverage draft of the Stachybotrys microspora genome and to annotate and analyze the genome sequence data. The rare fungus S.

Structure elucidation of lipase. Molecular dynamics simulations to investigate the effects of calcium and zinc ions on the structural stability.

Cold-adapted and organic solvent tolerant lipases have significant potential in a wide range of synthetic reactions in industry. But there are no sufficient studies on how these enzymes interacts with their substrates. Herein, the predicted structure and function of the lipase (SCL) are studied.

A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; OMIM 603041) is a rare inherited metabolic disorder mostly caused by mutations in TYMP gene encoding thymidine phosphorylase (TP) protein that affects the mitochondrial nucleotide metabolism. TP, functionally active as a homodimer, is involved in the salvage pathway of pyrimidine nucleosides. MNGIE-like syndrome having an overlapping phenotype of MNGIE was also described and has been associated with mutations in POLG and RRM2B genes.

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.

Progressive encephalopathy with brain edema and/or leukoencephalopathy, PEBEL1, is a severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration associated with a febrile illness. PEBEL1 is a lethal encephalopathy caused by NAXE gene mutations. Here we report a 6-month-old boy with mitochondrial encephalomyopathy from a consanguineous family.

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the gene.

Variants in the gene have been reported to be associated with nonsyndromic hearing loss (HL) and Perrault syndrome (PS), a rare recessive disorder marked by bilateral sensorineural HL and ovarian dysgenesis. Given the low number of pathogenic variants described in the gene, no genotype/phenotype correlations have been established between variants in this gene and the clinical data. Whole blood was collected from four members of a Lebanese family with PS.

Biodegradation of C20 carbon clusters from Diesel Fuel by : optimization, metabolic pathway, phytotoxicity.

Unlabelled: This study is to test the capacity of the white rot fungus for the biodegradation of Diesel Fuel hydrocarbons (DHs). Using the experimental face centered central composite design (FCCCD), culture conditions of the Diesel-mended medium were optimized to reach 110.43% of DHs removal rate, and l5267.

Production and characterization of soft Sardaigne-type cheese by using almond gum as a functional additive.

The effect of almond gum (AG), as natural polysaccharide with high nutritional value and important functional properties, on physicochemical and textural characteristics of Sardaigne-type cheese was investigated. Response surface methodology (RSM) using Box-Behnken design was applied to determine optimal levels of three selected processing variables such as coagulation temperature (25-45°C), stirring period (20-30 min), and AG concentration (0.25%-0.

Zinc biosorption by Dunaliella sp. AL-1: Mechanism and effects on cell metabolism.

Phycoremediation is being considered as an eco-friendly and safe technology for toxics eradication from contaminated aquatic systems. The zinc biosorption capacity of Dunaliella sp. AL-1 was demonstrated.

SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been established for SRD5A3-CDG.

Involvement of MTHFR rs1801133 in the Susceptibility of Acute Lymphoblastic Leukemia: A Preliminary Study.

Background: Acute lymphoblastic leukemia (ALL), a common blood cancer, is characterized by the interaction between genetic and environmental factors. Several variants of the Methylenetetrahydrofolate reductase (MTHFR), mainly the C677T (rs1801133), may affect susceptibility to ALL.

Aim Of The Study: The authors conducted this case-control study to evaluate the relationship between this variant of the MTHFR gene and the risk of ALL.

Involvement of C677T MTHFR variant but not A1298C in methotrexate-induced toxicity in acute lymphoblastic leukemia.

Background: Methotrexate (MTX) is a key drug in acute lymphoblastic leukemia (ALL) treatment; it inhibits DNA replication by blocking the conversion of 5, 10 Methylenetetrahydrofolate to 5-methylene tetrahydrofolate by methylenetetrahydrofolate reductase (MTHFR). Variants of the Methylenetetrahydrofolate reductase (MTHFR) and MTX related toxicities were largely investigated in several populations, nevertheless, the results are conflicting.

Objective: This study aimed to assess the prevalence of MTHFR SNVs: C677>T and A1298>C in Tunisian patients with ALL and the relation to the frequency of drug-induced complications.

Gene cloning, expression, molecular modeling and docking study of the protease SAPRH from Bacillus safensis strain RH12.

The sapRH gene, which encodes the serine alkaline protease SAPRH, from Bacillus safensis RH12, was isolated and its DNA sequence was determined. The deduced amino-acid sequence showed strong homology with other Bacillus proteases. The highest sequence identity value (97%) was obtained with SAPB from B.