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Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein
(
MDPI
, 2024 , Article)
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe ...
SARS-CoV-2 infection triggers more potent antibody-dependent cellular cytotoxicity (ADCC) responses than mRNA-, vector-, and inactivated virus-based COVID-19 vaccines
(
Wiley
, 2024 , Article)
Neutralizing antibodies (NAbs) are elicited after infection and vaccination and have been well studied. However, their antibody-dependent cellular cytotoxicity (ADCC) functionality is still poorly characterized. Here, we ...
Genetic Susceptibility to Arrhythmia Phenotypes in a Middle Eastern Cohort of 14,259 Whole-Genome Sequenced Individuals
(
Multidisciplinary Digital Publishing Institute (MDPI)
, 2024 , Article)
Background: The current study explores the genetic underpinnings of cardiac arrhythmia phenotypes within Middle Eastern populations, which are under-represented in genomic medicine research. Methods: Whole-genome sequencing ...
Development of Recombinant PLC-Zeta Protein as a Therapeutic Intervention for the Clinical Treatment of Oocyte Activation Failure
(
MDPI
, 2024 , Article)
The sperm-specific phospholipase C zeta (PLCζ) protein is widely considered as the predominant physiological stimulus for initiating the Ca2+ release responsible for oocyte activation during mammalian fertilization. The ...
A computational model to predict the structural and functional consequences of missense mutations in O6-methylguanine DNA methyltransferase
(
Elsevier
, 2019 , Article)
DNA repair mechanism is a process through which the cell repairs its damaged DNA. Although there are several mechanisms involved in the DNA repair mechanisms, the direct reversal method is the simplest and does not require ...
A comprehensive review on the anti-cancer properties and mechanisms of action of sesamin, a lignan in sesame seeds (Sesamum indicum).
(
Elsevier
, 2017 , Article)
Sesamin is the major active ingredient is Sesamum indicum seeds. Several studies revealed that sesamin possesses potent anti-cancer properties. The anti-cancer effects of sesamin have been mainly attributed to its ...
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 ...
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
(
Elsevier
, 2020 , Article)
Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the or genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA ...
A computational overview on phylogenetic characterization, pathogenic mutations, and drug targets for Ebola virus disease
(
Elsevier
, 2021 , Article)
The World Health Organization declared Ebola virus disease(EVD) as the major outbreak in the 20th century. EVD was firstidentified in 1976 in South Sudan and the Democratic Republicof the Congo. EVD was transmitted from ...
Performance evaluation of novel fluorescent-based lateral flow immunoassay (LFIA) for rapid detection and quantification of total anti-SARS-CoV-2 S-RBD binding antibodies in infected individuals
(
Elsevier
, 2022 , Article)
The vast majority of the commercially available LFIA is used to detect SARS-CoV-2 antibodies qualitatively. Recently, a novel fluorescence-based LIFA test was developed for quantitative measurement of the total binding ...