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A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
(
Wiley
, 2019 , Article)
Pompe disease is an autosomal recessive lysosomal storage disease caused by acid α-glucosidase (GAA) deficiency, resulting in intralysosomal accumulation of glycogen, including cardiac, skeletal, and smooth muscle cells. ...
Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
(
Elsevier
, 2018 , Article)
The GCC is an economic alliance of six Arab countries, including Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and United Arab Emirates (UAE). The rate of endogamous marriage among the GCC countries is approaching 100%, with ...
Neuropathy of type 1 diabetes in the Arab world: A systematic review and meta-analysis
(
Elsevier
, 2017 , Article)
Abstract AimsAlthough type 1 diabetes (T1D) is a common disease in the Arab nations, there is no data available on the prevalence of peripheral neuropathy (PN) among T1D subjects in Arab countries. The aim of this study ...
The Arab genome: Health and wealth
(
Elsevier B.V.
, 2016 , Article)
The 22 Arab nations have a unique genetic structure, which reflects both conserved and diverse gene pools due to the prevalent endogamous and consanguineous marriage culture and the long history of admixture among different ...
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 ...
Integrative ontology and pathway-based approach identifies distinct molecular signatures in transcriptomes of esophageal squamous cell carcinoma
(
Elsevier
, 2022 , Book chapter)
Esophageal squamous cell carcinoma (ESCC) remains a serious concern globally due to many factors that including late diagnosis, lack of an ideal biomarker for diagnosis and prognosis, and high rate of mortality. In this ...
miR-20b, miR-296, and Let-7f Expression in Human Adipose Tissue is Related to Obesity and Type 2 Diabetes.
(
Wiley
, 2019 , Article)
This study aimed to analyze the potential association of different microRNA (miRNA) molecules with both type 2 diabetes (T2D) and obesity and determine their target genes. Quantitative PCR was used to analyze the miR-20b, ...
Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.
(
Taylor & Francis
, 2019 , Article)
The autosomal recessive phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is characterized by defective functioning of the PMM2 enzyme, which is necessary for the conversion of mannose-6-phosphate into ...
Elucidating the role of interacting residues of the MSH2-MSH6 complex in DNA repair mechanism: A computational approach.
(
Elsevier
, 2019 , Article)
The DNA repair system is crucial to repair the error resulting in DNA replication. MSH2-MSH6 protein complex plays a significant role in maintaining the mismatch repair mechanism. Mutations in the interface between the two ...
Mutational landscape of K-Ras substitutions at 12th position-a systematic molecular dynamics approach
(
Taylor and Francis
, 2020 , Article)
K-Ras is a small GTPase and acts as a molecular switch by recruiting GEFs and GAPs, and alternates between the inert GDP-bound and the dynamic GTP-bound forms. The amino acid at position 12 of K-Ras is a hot spot for ...