Search
Now showing items 1-10 of 12
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...