(Guanine Nucleotide-Binding Protein, Alpha Stimulating) is a complex gene that encodes the alpha subunit of the stimulatory G protein (Gα), critical for signaling through various G protein-coupled receptors. Inactivating genetic and epigenetic changes in , resulting in Gα deficiency, cause different variants of pseudohypoparathyroidism, which may manifest features of Albright hereditary osteodystrophy (AHO, a syndrome characterized by early-onset obesity and other developmental defects). Recent findings have linked Gα deficiency with isolated, severe, early-onset obesity, suggesting it as a potential, underrecognized cause of monogenic, non-syndromic obesity.
View Article and Find Full Text PDFAlbumin-coated gold nanoparticles display potential biomedical applications, including cancer research, infection treatment, and wound healing; however, elucidating their interaction with normal cells remains an area with limited exploration. In this study, gold nanorods (GNR) were prepared and coated with bovine serum albumin (BSA) to produce GNR-BSA. The functionalized nanoparticles were characterized based on their optical absorption spectra, morphology, surface charge, and quantity of attached protein.
View Article and Find Full Text PDFThe kinase suppressor of Ras 2 () gene is associated with monogenic obesity, and loss-of-function variants in have been identified in individuals with severe early-onset obesity. This study investigated variants in 9 pediatric patients with severe early-onset obesity in Qatar using whole genome sequencing among a cohort of 240 individuals. We focused on variants with a minor allele frequency (MAF) below 1% and a Combined Annotation Dependent Depletion (CADD) score above 13 to identify potential causative variants.
View Article and Find Full Text PDFIntroduction: Intermittent fasting (IF) represents a dietary intervention similar to caloric restriction, characterized by the strategic limitation of food consumption. Among the diverse array of practices for IF, Ramadan IF (RIF), a religious observance in Islam, mandates that healthy adult Muslims abstain from both food and drinks during daylight hours. In sports, researchers have extensively studied IF effects on health, including sleep and physical performance, but its impact on cognitive functions during RIF remains understudied.
View Article and Find Full Text PDFThe journal retracts the article, "Omega-3 Self-Nanoemulsion Role in Gastroprotection against Indomethacin-Induced Gastric Injury in Rats" [...
View Article and Find Full Text PDFMutat Res Rev Mutat Res
May 2024
Background: GNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes Gα, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse array of G protein-coupled receptors (GPCRs), including the melanocortin 4 receptor (MC4R) that serves a pivotal role in regulating food intake, energy homoeostasis, and body weight. Genetic or epigenetic alterations in GNAS are known to cause pseudohypoparathyroidism in its different subtypes and have been recently associated with isolated, early-onset, severe obesity.
View Article and Find Full Text PDFThe leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The gene plays a central role in leptin-melanocortin signaling, and heterozygous variants in this gene are the most common cause of MO.
View Article and Find Full Text PDFStore-operated calcium entry (SOCE) contributes to several physiological and pathological conditions including transcription, secretion, immunodeficiencies, and cancer. SOCE has been shown to be important for breast cancer cell migration where knockdown of SOCE components (STIM1 or Orai1) decreases cancer metastasis. Here we show unexpectedly that complete knockout of STIM1 (STIM1-KO) using gene editing in metastatic MDA-MB-231 breast cancer cells results in faster migration and enhanced invasion capacity.
View Article and Find Full Text PDFChemotherapy-induced peripheral neuropathy is a common adverse effect associated with a number of chemotherapeutic agents including paclitaxel (PTX) which is used in a wide range of solid tumors. Development of PTX-induced peripheral neuropathy (PIPN) during cancer treatment requires dose reduction which limits its clinical benefits. This study is conducted to investigate the role of toll like receptor-4 (TLR4) /p38 signaling and Klotho protein expression in PIPN and the role of trimetazidine (TMZ) in this pathway.
View Article and Find Full Text PDFBackground: The concepts of online and blended education came into the limelight in the 19th century. Over time, the concepts expanded and reached a peak in 2021 in response to the COVID-19 lockdown. One of the challenges is the monitoring of the performance of distant learners.
View Article and Find Full Text PDFFront Med (Lausanne)
September 2022
Front Med (Lausanne)
June 2022
Objective: Sepsis-induced acute lung injury (ALI) and acute kidney injury (AKI) are major causes of mortality. Menthol is a natural compound that has anti-inflammatory and antioxidative actions. Since exaggerated inflammatory and oxidative stress are characteristics of sepsis, the aim of this study was to evaluate the effect of menthol against sepsis-induced mortality, ALI, and AKI.
View Article and Find Full Text PDFBackground: Multifragmentary posterior wall fractures are not uncommon after posterior hip fracture-dislocation. They can be elementary but are commonly associated with transverse acetabular fractures. Specific technical challenges are encountered when managing these fracture patterns.
View Article and Find Full Text PDFBackground: A workplace-based assessment (WBA) is used to assess learners' competencies in their workplaces. Many workplace assessment tools are available and validated to assess various constructs. The implementation of workplace-based assessment requires proper training of the staff.
View Article and Find Full Text PDFBackground: Lateral compression (LC) accounts for a wide spectrum of pelvic ring injuries (PRIs). The primary aim of this study was to assess the health-related quality of life outcomes of surgically fixed LC crescent versus sacral fractures in patients less than 50 years old after high energy trauma.
Material And Methods: We retrospectively reviewed the database for PRIs treated surgically from Decem-ber 2011 to January 2019 at our tertiary level trauma centre.
Aims: After failed acetabular fractures, total hip arthroplasty (THA) is a challenging procedure and considered the gold standard treatment. The complexity of the procedure depends on the fracture pattern and the initial fracture management. This study's primary aim was to evaluate patient-reported outcome measures (PROMs) for patients who underwent delayed uncemented acetabular THA after acetabular fractures.
View Article and Find Full Text PDFStore-operated Ca entry (SOCE) is a ubiquitous Ca influx pathway required for multiple physiological functions including cell motility. SOCE is triggered in response to depletion of intracellular Ca stores following the activation of the endoplasmic reticulum (ER) Ca sensor STIM1, which recruits the plasma membrane (PM) Ca channel Orai1 at ER-PM junctions. STIM1 is phosphorylated dynamically, and this phosphorylation has been implicated in several processes including SOCE inactivation during M-phase, maximal SOCE activation, ER segregation during mitosis, and cell migration.
View Article and Find Full Text PDFIntroduction: The combination of ipsilateral femoral and acetabular fractures is known in the literature as the "Floating hip injury". The primary aim of this study is to assess both generic and specific patient-reported outcomes and the factors affecting the quality of life in patients sustaining this injury, while the secondary aim was to assess the injury patterns and the associated complications.
Methods: A retrospective study including 27 patients according to specific inclusion and exclusion criteria.
Ca signaling is ubiquitous in eukaryotic cells and modulates many cellular events including cell migration. Directional cell migration requires the polarization of both signaling and structural elements. This polarization is reflected in various Ca signaling pathways that impinge on cell movement.
View Article and Find Full Text PDFThis study aims at examining the use of an advanced meso-scale continuous-flow photochemical reactor for the photocatalytic conversion of CO with water into fuel over TiO (P25), Ag/TiO, and Ag/TiO/RGO catalysts. The silver loaded photocatalysts were prepared by one-step process via hydrothermal method. The prepared photocatalysts were characterized by various characterization techniques in order to identify the morphological, chemical, physical, and optical properties.
View Article and Find Full Text PDFRegulation of Ca signaling is critical for the progression of cell division, especially during meiosis to prepare the egg for fertilization. The primary Ca influx pathway in oocytes is Store-Operated Ca Entry (SOCE). SOCE is tightly regulated during meiosis, including internalization of the SOCE channel, Orai1.
View Article and Find Full Text PDFThe steroid hormone progesterone (P4) mediates many physiological processes through either nuclear receptors that modulate gene expression or membrane P4 receptors (mPRs) that mediate nongenomic signaling. mPR signaling remains poorly understood. Here we show that the topology of mPRβ is similar to adiponectin receptors and opposite to that of G-protein-coupled receptors (GPCRs).
View Article and Find Full Text PDF