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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 ...
Adipose tissue dysfunction in cancer cachexia
(
Wiley Periodicals, Inc.
, 2018 , Article)
Cancer cachexia is a complex disorder that is driven by inflammation and metabolic imbalances, resulting in extreme weight loss. Adipose tissue, a main player in cancer cachexia, is an essential metabolic and secretory ...
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 ...
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 ...
Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
(
Elsevier
, 2018 , Article)
X-linked Charcot-Marie-Tooth type 1 X (CMTX1) disease is a subtype of Charcot-Marie-Tooth (CMT), which is mainly caused by mutations in the GJB1 gene. It is also known as connexin 32 (Cx32) that leads to Schwann cell ...
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 ...
"green" ZnO-Interlinked Chitosan Nanoparticles for the Efficient Inhibition of Sulfate-Reducing Bacteria in Inject Seawater
(
American Chemical Society
, 2018 , Article)
Antimicrobial agents and corrosion inhibitors are widely used as biocides in the oil and gas industry to disinfect water and inhibit excessive biofilm formation caused mainly by sulfate reducing bacteria (SRBs). However, ...
Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
(
Elsevier
, 2018 , Article)
The GCC is an economic alliance of six Arab countries, including Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and United Arab Emirates (UAE). The rate of endogamous marriage among the GCC countries is approaching 100%, with ...
Ecotoxicological assessment of Ti3C2Tx (MXene) using a zebrafish embryo model
(
Royal Society of Chemistry
, 2018 , Article)
The recent application of 2D Ti3C2Tx (MXene) nanomaterials as adsorbents and membranes for water treatment as well as for biomedical applications is attracting a growing interest. However, the environmental impact of MXene ...
Zebrafish larvae as a model to demonstrate secondary iron overload.
(
Wiley
, 2018 , Article)
Thalassemia is the most common genetically inherited blood disorder arising from a defect in hemoglobin production, resulting in ineffective erythropoiesis and severe hemolytic anemia. While transfusion therapy corrects ...