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Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
(
Oxford University Press (OUP)
, 2017 , Article)
Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight ...
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review
(
Wolters Kluwer Health
, 2019 , Article)
Hearing loss (HL) is a heterogeneous condition that causes partial or complete hearing impairment. Hundreds of variants in more than 60 genes have been reported to be associated with Hereditary HL (HHL). The HHL prevalence ...
Bioinformatics investigation on blood-based gene expressions of Alzheimer's disease revealed ORAI2 gene biomarker susceptibility: An explainable artificial intelligence-based approach
(
Springer
, 2023 , Article)
The progressive, chronic nature of Alzheimer's disease (AD), a form of dementia, defaces the adulthood of elderly individuals. The pathogenesis of the condition is primarily unascertained, turning the treatment efficacy ...
Non-coding RNAs as biomarkers of myocardial infarction
(
Elsevier
, 2023 , Article)
Non-coding RNAs (ncRNAs) encompass a family of ubiquitous RNA molecules that lack protein-coding potential and have tissue-specific expression. A significant body of evidence indicates that ncRNA's aberrant expression plays ...
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, ...
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 ...
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 ...
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 ...
Potential Therapeutic Targets of Resveratrol in the Prevention and Treatment of Pulmonary Fibrosis
(
IMR Press Limited
, 2023 , Article)
Pulmonary fibrosis (PF) is a feared component in over 200 interstitial pulmonary diseases, which are characterized by increased alveolar wall thickness, excessive scarring, and aberrant extracellular matrix restructuring ...