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An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia
(
Elsevier
, 2019 , Article)
Type I galactosemia is a very rare autosomal recessive genetic metabolic disorder that occurs because of the mutations present in the galactose-1-phosphate uridyl transferase (GALT) gene, resulting in a deficiency of the ...
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme
(
Springer US
, 2017 , Article)
Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development ...
Management of chronic myeloid leukaemia: current treatment options, challenges, and future strategies.
(
taylor and francis online
, 2023 , Article)
Small molecule therapy is a critical component of targeted anticancer treatment, with tyrosine kinase inhibitors (TKIs) being the first compounds to treat the clonal Chronic Myelogenous Leukaemia (CML) translocation t ...
Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease
(
Springer Nature
, 2023 , Article)
Alzheimer disease (AD) is a leading cause of dementia in elderly patients who continue to live between 3 and 11 years of diagnosis. A steep rise in AD incidents is observed in the elderly population in East-Asian countries. ...
Association of single nucleotide polymorphisms with dyslipidemia and risk of metabolic disorders in the State of Qatar
(
Wiley-Blackwell
, 2023 , Article)
Background: Dyslipidemia is recognized as one of the risk factors of cardiovascular diseases (CVDs), type 2 diabetes mellitus (T2DM), and non-alcoholic fatty liver disease (NAFLD). Objective: The study aimed to investigate ...
The Implication of Mechanistic Approaches and the Role of the Microbiome in Polycystic Ovary Syndrome (PCOS): A Review
(
Multidisciplinary Digital Publishing Institute (MDPI)
, 2023 , Article)
As a complex endocrine and metabolic condition, polycystic ovarian syndrome (PCOS) affects women’s reproductive health. These common symptoms include hirsutism, hyperandrogenism, ovulatory dysfunction, irregular menstruation, ...
Implications and theragnostic potentials of circular RNAs in rheumatic diseases
(
Elsevier
, 2023 , Article Review)
Circular RNAs (circRNAs), a class of non-coding RNAs (ncRNAs), are highly stable and ubiquitous molecules that exhibit tissue-specific expression. Accumulating evidence has shown that aberrant expression of circRNAs can ...
Unraveling the Dysbiosis of Vaginal Microbiome to Understand Cervical Cancer Disease Etiology—An Explainable AI Approach
(
Multidisciplinary Digital Publishing Institute (MDPI)
, 2023 , Article)
Microbial Dysbiosis is associated with the etiology and pathogenesis of diseases. The studies on the vaginal microbiome in cervical cancer are essential to discern the cause and effect of the condition. The present study ...
Effect of Resveratrol on Pregnancy, Prenatal Complications and Pregnancy-Associated Structure Alterations.
(
MDPI
, 2023 , Article Review)
Adverse pregnancy outcomes are considered significant health risks for pregnant women and their offspring during pregnancy and throughout their lifespan. These outcomes lead to a perturbated in-utero environment that impacts ...
Integrated gene network analysis sheds light on understanding the progression of Osteosarcoma
(
National library of medicine
, 2023 , Article)
Introduction: Osteosarcoma is a rare disorder among cancer, but the most frequently occurring among sarcomas in children and adolescents. It has been reported to possess the relapsing capability as well as accompanying ...