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Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
(
Springer US
, 2016 , Article)
Abstract To characterize an Egyptian patient with glutaric
acidemia type I (GA I) and to identify the causative mutation(
s) that may be responsible for the disease phenotype.
MRI was performed on the patient using the ...
Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World
(
Nature Publishing Group
, 2016 , Article)
A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) ...
An Arab registry for type 1 diabetes: global benefits for type 1 diabetes patients
(
Taylor & Francis
, 2016 , Article)
BACKGROUND:
The Arab world encompasses twenty-two Arabic-speaking countries, where the rate of consanguinity can exceed 50%. Type 1 diabetes (T1D), a chronic disorder that requires lifelong treatment, is believed to be ...
RPL13A and EEF1A1 Are Suitable Reference Genes for qPCR during Adipocyte Differentiation of Vascular Stromal Cells from Patients with Different BMI and HOMA-IR
(
Public Library of Science (PLoS)
, 2016 , Article)
Real-time or quantitative PCR (qPCR) is a useful technique that requires reliable reference genes for data normalization in gene expression analysis. Adipogenesis is among the biological processes suitable for this technique. ...
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 ...
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 ...
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.
Novel mutation in an Egyptian patient with infantile Canavan disease.
(
Springer Verlag (Germany)
, 2016 , 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 that catalyzes the deacetylation ...
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 ...
Enhanced Identification of Transcriptional Enhancers Provides Mechanistic Insights into Diseases.
(
Cell Press
, 2016 , Article)
Enhancers are distal cis-regulatory DNA elements that increase the expression of target genes. Various experimental and computational approaches including chromatin signature profiling have been developed to predict enhancers ...