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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 ...
A computational approach for investigating the mutational landscape of RAC-alpha serine/threonine-protein kinase (AKT1) and screening inhibitors against the oncogenic E17K mutation causing breast cancer.
(
Elsevier
, 2019 , Article)
Breast cancer (BC) is the most commonly diagnosed cancer among females worldwide, and among the BC-associated mutations in various proteins, mutations in the RAC-alpha serine/threonine-protein kinase (AKT1) remain the most ...
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 ...
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 ...
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 ...
Association of genetic variants with colorectal cancer in the extended MENA region: A systematic review
(
Bentham Science Publishers
, 2019 , Article)
Colorectal cancer (CRC) is the third most common cancer worldwide and the third leading cause of cancer-related death. It is a heterogeneous disease that develops through different genetic and epigenetic mechanisms. To ...
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, ...
Genetic Epidemiology of Beta-Thalassemia in the Maldives: 23 years of a Beta-Thalassemia Screening Program.
(
Elsevier
, 2020 , Article)
The Maldives is an archipelago of 407,660 people according to population census of 2014, made up of 20 atolls, which has one of the highest prevalence of β-thalassemia worldwide. However, there is a dearth of studies related ...
Chapter Four Controlling cell proliferation by targeting cyclin-dependent kinase 6 using drug repurposing approach
(
Elsevier
, 2023 , Book chapter)
Cyclin-dependent kinase 6 (CDK6) is an essential kinase in cell cycle progression, which is a viable target for inhibitors in various malignancies, including breast cancer. This study aimed to virtually screen efficient ...
Enzyme therapy: a forerunner in catalyzing a healthy society?
(
Taylor & Francis
, 2020 , Article)
The use of enzymes in various industries has been prevalent for centuries. However, their potency as therapeutics remained latent until the late 1950 s, when scientists finally realized the gold mine they were sitting on. ...