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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 ...
Inositol 1,4,5-Trisphosphate Receptors in Hypertension.
(
Frontiers Media
, 2018 , Article Review)
Chronic hypertension remains a major cause of global mortality and morbidity. It is a complex disease that is the clinical manifestation of multiple genetic, environmental, nutritional, hormonal, and aging-related disorders. ...
Protective Effect of Cyclically Pressurized Solid⁻Liquid Extraction Polyphenols from Grape Pomace on Oxidative Endothelial Cell Death.
(
MDPI
, 2018 , Article)
The aim of this work is the evaluation of a green extraction technology to exploit winery waste byproducts. Specifically, a solid⁻liquid extraction technology (Naviglio Extractor) was used to obtain polyphenolic antioxidants ...
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, ...
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 ...
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 ...