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Comparison of potential inhibitors and targeting fat mass and obesity-associated protein causing diabesity through docking and molecular dynamics strategies.
(
Wiley
, 2021 , Article)
Genome-wide association studies (GWAS) have identified an association between polymorphisms in the FTO gene and obesity. The FTO: rs9939609, an intronic variant, is considered a risk allele for developing diabesity in ...
Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
(
Elsevier
, 2019 , Article)
The nucleotide salvage pathway is used to recycle degraded nucleotides (purines and pyrimidines); one of the enzymes that helps to recycle purines is hypoxanthine guanine phosphoribosyl transferase 1 (HGPRT1). Therefore, ...
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 ...
Enhanced production of anthraquinones by gamma-irradiated cell cultures of Rubia cordifolia in a bioreactor
(
Elsevier
, 2019 , Article)
The aim of this study was to obtain high-yielding cell cultures of Rubia cordifolia by applying gamma irradiation and subsequently scaling up for anthraquinone production in a bioreactor. Calli cultured on MS medium was ...
Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.
(
Elsevier
, 2018 , Article)
Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis ...
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 ...
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA
(
Springer US
, 2019 , Article)
Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is ...
A systemic approach to explore the mechanisms of drug resistance and altered signaling cascades in extensively drug-resistant tuberculosis
(
Elsevier
, 2021 , Book chapter)
Background and aim: The persistence of extensively drug-resistant (XDR) strains of Mycobacterium tuberculosis (MTB) continue to pose a significant challenge to the treatment and control of tuberculosis infections worldwide. ...
Computational model to analyze and characterize the functional mutations of NOD2 protein causing inflammatory disorder - Blau syndrome.
(
Elsevier
, 2020 , Article)
Blau syndrome (BS), which affects the eyes, skin, and joints, is an autosomal dominant genetic inflammatory disorder. BS is caused by mutations in the NOD2 gene. However, there are no direct treatments, and treatment with ...
Investigation of differentially expressed genes and dysregulated pathways involved in multiple sclerosis
(
Elsevier
, 2022 , Book chapter)
Multiple Sclerosis (MS) is a neurodegenerative autoimmune and organ-specific demyelinating disorder, known to affect the central nervous system (CNS). While genetic studies have revealed several critical genes and diagnostic ...