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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. ...
Immunogenetics of Celiac Disease: A focus on Arab countries.
(
Bentham Science Publishers
, 2019 , Article)
Celiac Disease (CD) is a complex immunogenic disease mainly triggered by gluten intake in genetically susceptible individuals with a prevalence of 1 in 100-300. CD results from the interplay between genetic and environmental ...
An integrative analysis to distinguish between emphysema (EML) and alpha-1 antitrypsin deficiency-related emphysema (ADL)-A systems biology approach
(
Elsevier
, 2021 , Book chapter)
Lung Emphysema is an abnormal enlargement of the air sacs followed by the destruction of alveolar walls without any prominent fibrosis. This study primarily identifies the differentially expressed genes (DEGs), interactions ...
RNA splicing: a dual-edged sword for hepatocellular carcinoma
(
Springer
, 2022 , Article Review)
RNA splicing is the fundamental process that brings diversity at the transcriptome and proteome levels. The spliceosome complex regulates minor and major processes of RNA splicing. Aberrant regulation is often associated ...