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A new horizon in the phosphorylated sites of AGA: the structural impact of C163S mutation in aspartylglucosaminuria through molecular dynamics simulation
(
Taylor and Francis Ltd.
, 2023 , Article)
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by insufficient aspartylglucosaminidase (AGA) activity leading to chronic neurodegeneration. We utilized the PhosphoSitePlus tool to identify the AGA ...
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 ...
Whole-exome sequencing analysis of NSCLC reveals the pathogenic missense variants from cancer-associated genes
(
Elsevier
, 2022 , Article)
Background: Non-small-cell lung cancer (NSCLC) is the most common type of lung cancer. NSCLC accounts for 84% of all lung cancer cases. In recent years, advances in pathway understanding, methods for discovering novel ...
Identification of dysregulated canonical pathways associated with pathogenesis and progression of Amyotrophic Lateral Sclerosis—An integrated bioinformatics approach
(
Elsevier
, 2023 , Article)
The mechanisms responsible for the pathogenesis and progression of Amyotrophic Lateral Sclerosis (ALS) remain poorly understood, making the diagnosis of ALS challenging. We aimed to find the novel gene biomarkers via ...
Genetic Epidemiology of Type 1 Diabetes in the 22 Arab Countries.
(
Current Medicine Group
, 2016 , Article)
Type 1 diabetes (T1D) is a complex autoimmune disorder that results from the T cell-mediated destruction of the pancreatic β cells and is due to interactions between environmental and genetic factors. Although Arabs have ...
Enhanced Identification of Transcriptional Enhancers Provides Mechanistic Insights into Diseases.
(
Cell Press
, 2016 , Article)
Enhancers are distal cis-regulatory DNA elements that increase the expression of target genes. Various experimental and computational approaches including chromatin signature profiling have been developed to predict enhancers ...
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
(
Springer Verlag
, 2017 , Article)
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl ...
Genetic epidemiology of male infertility (MI) in Arabs: a systematic review
(
CSIRO
, 2022 , Article Review)
Although Male Infertility (MI) in Arabs is fairly common, there is a dearth in published reports of genetic epidemiology of MI among Arabs. This study aimed to review the existing literature reporting the variants that are ...
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 ...
Durable immunity to oncogenic human papillomaviruses elicited by adjuvanted recombinant Adeno-associated virus-like particle immunogen displaying L2 17-36 epitopes
(
Elsevier
, 2015 , Article)
Vaccination with the minor capsid protein L2, notably the 17–36 neutralizing epitope, induces broadly protective antibodies, although the neutralizing titers attained in serum are substantially lower than for the licensed ...