Biomedical Sciences: Recent submissions
Now showing items 641-660 of 711
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Propionic acidemia in the Arab World.
( Elsevier , 2015 , Article)The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in ... -
Canavan disease: an Arab scenario.
( Elsevier Inc. , 2015 , Article)The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with ... -
P3. 210 Estimating the antibody prevalence of herpes simplex virus type 2 among select middle east and north africa populations
( BMJ Publishing Group , 2017 , Conference Proceedings)Introduction There are very limited data on herpes simplex virus type 2 (HSV-2) infection in the Middle East and North Africa (MENA). We examined the overall and age-specific HSV-2 antibody prevalence among select MENA ... -
CD146, a novel target of CD44-signaling, suppresses breast tumor cell invasion.
(2017 , Article)We have previously validated three novel CD44-downstream positively regulated transcriptional targets, including Cortactin, Survivin and TGF-β2, and further characterized the players underlying their separate signaling ... -
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 ... -
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
( Springer Verlag , 2017 , Article)Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl ... -
Differences in the neovascular potential of thymus versus subcutaneous adipose-derived stem cells from patients with myocardial ischemia.
( Wiley , 2017 , Article)Adipose tissue-derived multipotent mesenchymal cells (ASCs) participate in the formation of blood vessels under hypoxic conditions. It is probable that the susceptibility of ASCs to the influence of age and aging-associated ... -
Structural modeling of p.V31F variant in the aspartoacylase gene.
( Springer Verlag , 2016 , Article)Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain ... -
Epidemiology of diabetic ketoacidosis in Arab patients with type 1 diabetes: a systematic review.
( Wiley , 2016 , Article)Diabetic ketoacidosis (DKA) is an acute and risky complication of type 1 diabetes. The aim of this study is to build the overall rate of DKA in Arab patients with type 1 diabetes in the 22 Arab nations. This is expected ... -
Structural Determination of the Broadly Reactive Anti-IGHV1-69 Anti-idiotypic Antibody G6 and Its Idiotope
( Elsevier (Cell Press) , 2017 , Article)The heavy chain IGHV1-69 germline gene exhibits a high level of polymorphism and shows biased use in protective antibody (Ab) responses to infections and vaccines. It is also highly expressed in several B cell malignancies ... -
Evaluation of Global Genomic DNA Methylation in Human Whole Blood by Capillary Electrophoresis UV Detection
( Hindawi Publishing Corporation , 2017 , Article)Alterations in global DNA methylation are implicated in various pathophysiological processes. The development of simple and quick, yet robust, methods to assess DNA methylation is required to facilitate its measurement and ... -
Maternal microbiota regulate glucocorticoids levels and placental development in mice
( bioscientifica , 2015 , Conference Proceedings)The gut microbiota contributes to postnatal development and maturation by influencing barrier functions of the intestinal wall, the development of the immune system, and the utilisation of nutrients. Recent studies have ... -
Bidirectional communication between the Aryl hydrocarbon Receptor (AhR) and the microbiome tunes host metabolism
( Nature Publishing Group in partnership with Nanyang Technological University , 2016 , Article)The ligand-induced transcription factor, aryl hydrocarbon receptor (AhR) is known for its capacity to tune adaptive immunity and xenobiotic metabolism-biological properties subject to regulation by the indigenous microbiome. ... -
PopPAnTe: population and pedigree association testing for quantitative data.
( BioMed Central , 2017 , Article)Family-based designs, from twin studies to isolated populations with their complex genealogical data, are a valuable resource for genetic studies of heritable molecular biomarkers. Existing software for family-based studies ... -
Accredited genetic testing in the Arab Gulf region: reinventing the wheel.
( Nature Publishing Group , 2016 , Article)Accredited genetic testing in the Arab Gulf region: reinventing the wheel. -
Genetic Epidemiology of Type 1 Diabetes in the 22 Arab Countries.
( Current Medicine Group , 2016 , Article)Type 1 diabetes (T1D) is a complex autoimmune disorder that results from the T cell-mediated destruction of the pancreatic β cells and is due to interactions between environmental and genetic factors. Although Arabs have ... -
Two patients with Canavan disease and structural modeling of a novel mutation.
( Springer US , 2017 , Article)Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis ... -
The Qatar genome project: translation of whole-genome sequencing into clinical practice.
( Wiley , 2016 , Article)Qatar Genome Project was launched in 2013 with the intent to sequence the genome of each Qatari citizen in an effort to protect Qataris from the high rate of indigenous genetic diseases by allowing the mapping of disease-causing ... -
Screening Novel Molecular Targets of Metformin in Breast Cancer by Proteomic Approach.
( Frontiers Media , 2017 , Article)Metformin is a commonly prescribed antihyperglycemic drug, and has been investigated in vivo and in vitro for its effect to improve the comorbidity of diabetes and various types of cancers. Several studies investigated the ... -
Gut microbial communities modulating brain development and function
( Taylor & Francis , 2012 , Article)Mammalian brain development is initiated in utero and internal and external environmental signals can affect this process all the way until adulthood. Recent observations suggest that one such external cue is the indigenous ...