Biomedical Sciences: المرسلات الحديثة
السجلات المعروضة 601 -- 620 من 711
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A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.
( Elsevier , 2019 , Book chapter)Gaucher's disease (GD) is the most commonly known lysosomal disorder that occurs due to mutations in the β-glucocerebrosidase (GBA) protein. Our previous findings (Thirumal Kumar, Eldous, Mahgoub, George Priya Doss, Zayed, ... -
Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson's and Gaucher diseases.
( Springer , 2018 , Article)Gaucher's disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and specific organs. It is broadly classified into type I, type II and type III. Patients with GD are at high risk of Parkinson's ... -
Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.
( Elsevier , 2018 , Article)Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis ... -
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.
( Elsevier , 2018 , Article)Clinical Exome Sequencing (CES) has increasingly become a popular diagnostic tool in patients suffering from genetic disorders that are clinically and genetically complicated. Myeloproliferative Neoplasms (MPNs) is an ... -
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.
( Springer US , 2018 , Article)The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is classified into three categories: D-2-HGA, L-2-HGA, and combined D,L-2-HGA. The D-2-HGA includes ... -
Impaired Liver Size and Compromised Neurobehavioral Activity are Elicited by Chitosan Nanoparticles in the Zebrafish Embryo Model
( MDPI , 2019 , Article)The use of chitosan nanoparticles (ChNPs) in various biological and environmental applications is attracting great interest. However, potential side effects related to ChNP toxicity remain the major limitation hampering ... -
Performance of Four Diagnostic Assays for Detecting Herpes Simplex Virus Type 2 Antibodies in the Middle East and North Africa
( Elsevier , 2019 , Article)Background Assessments of commercial assays in detecting herpes simplex virus type 2 (HSV-2) antibodies have shown variable sensitivity and specificity, and variation in performance by global population. Objective To ... -
Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
( Elsevier , 2019 , Article)Ovarian cancer (OC) is a common disease among Arabs, with one of the highest incidences in the world. OC is underdiagnosed, underreported, and mostly reported with breast cancer. This study aimed to conduct a systematic ... -
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
( Wiley , 2018 , Article)Galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase (GALK) enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hyper ... -
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
( Wiley , 2018 , Article)Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, with various clinical manifestations that affect pulmonary, digestive, exocrine and male reproductive functions as well ... -
Antioxidant Activity Mediates Pirfenidone Antifibrotic Effects in Human Pulmonary Vascular Smooth Muscle Cells Exposed to Sera of Idiopathic Pulmonary Fibrosis Patients.
( Hindawi Publishing Corporation , 2018 , Article)Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by an exacerbated fibrotic response. Although molecular and cellular determinants involved in the onset and progression of this devastating disease ... -
In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
( Wiley , 2018 , Article)Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ... -
Novel CD44-downstream signaling pathways mediating breast tumor invasion
( Ivyspring International Publisher , 2018 , Article Review)CD44, also known as homing cell adhesion molecule is a multi-structural cell molecule involved in cell-cell and cell-extracellular matrix communications. CD44 regulates a number of central signaling pathways, including ... -
Using Zebrafish for Investigating the Molecular Mechanisms of Drug-Induced Cardiotoxicity
( Hindawi Publishing Corporation , 2018 , Article)Over the last decade, the zebrafish (Danio rerio) has emerged as amodel organismfor cardiovascular research.Zebrafish have several advantages over mammalian models. For instance, the experimental cost of using zebrafish ... -
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
( Springer US , 2018 , Article)Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the mutations in survival motor neuron 1 gene (SMN1). The molecular pathology of missense mutations in SMN1 is not thoroughly investigated so far. Therefore, ... -
Retinopathy of Type 1 Diabetes in Arab Countries: Systematic Review and Meta-Analysis.
( Karger , 2018 , Article Review)To conduct a systematic review and meta-analysis of retinopathy prevalence in patients with type 1 diabetes (T1D) in 22 Arab countries. We systematically searched 4 different literature databases (PubMed, Science Direct, ... -
Anaphylaxis triggers in a large tertiary care hospital in Qatar: a retrospective study
( BMC , 2018 , Article)Anaphylaxis is a serious allergic disease that may lead to death if not immediately recognized and treated. Triggers of anaphylaxis including food, drugs, and insect stings can vary widely. The incidence of anaphylaxis ... -
The Dual Specificity Role of Transcription Factor FOXO in Type 2-diabetes and Cancer
( Bentham Science Publishers , 2018 , Article Review)The FOXO (Forkhead box O) transcription factors are implicated in several signaling pathways and play a vital role in various cellular and physiological processes include for instance, ROS (reactive oxygen species) response, ... -
Computational screening of known broad-spectrum antiviral small organic molecules for potential influenza HA stem inhibitors.
( Public Library of Science , 2018 , Article)With the emergence of new influenza virus strains that are resistant to current inhibitors such as oseltamivir (anti-neuraminidase (NA)) and amantadine (anti-M2 proton channel), influenza A viruses continue to be a serious ... -
Recent advances in functional nanostructures as cancer photothermal therapy.
( Dove Medical Press , 2018 , Article Review)Being a non-invasive and relatively safe technique, photothermal therapy has attracted a lot of interest in the cancer treatment field. Recently, nanostructure technology has entered the forefront of cancer therapy owing ...