• Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World 

      Doss, C. George Priya; Alasmar, Dima R.; Bux, Reem I.; Sneha, P.; Bakhsh, Fadheela Dad; ... more authors ( Nature Publishing Group , 2016 , Article)
      A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) ...
    • miR-20b, miR-296, and Let-7f Expression in Human Adipose Tissue is Related to Obesity and Type 2 Diabetes. 

      Gentile, Adriana-Mariel; Lhamyani, Said; Coín-Aragüez, Leticia; Clemente-Postigo, Mercedes; Oliva Olivera, Wilfredo; ... more authors ( 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, ...
    • miR-21 mimic blocks obesity in mice: A novel therapeutic option 

      Lhamyani, Said; Gentile, Adriana-Mariel; Giráldez-Pérez, Rosa M; Feijóo-Cuaresma, Mónica; Romero-Zerbo, Silvana Yanina; ... more authors ( Elsevier , 2021 , Article)
      MicroRNAs (miRNAs) are promising drug targets for obesity and metabolic disorders. Recently, miRNA mimics are providing a unique mechanism of action that guides the process for drug development and sets out the context of ...
    • Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene 

      Moseilhy, Ahmed; Hassan, Magdy M.; El Abd, Heba S. A.; Mohammad, Shaimaa A.; El Bekay, Rajaa; ... more authors ( Springer US , 2016 , Article)
      Abstract To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation( s) that may be responsible for the disease phenotype. MRI was performed on the patient using the ...
    • Two patients with Canavan disease and structural modeling of a novel mutation. 

      Zaki, Osama K; Krishnamoorthy, Navaneethakrishnan; El Abd, Heba S; Harche, Soumaya A; Mattar, Reem A; ... more authors ( Springer US , 2017 , Article)
      Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis ...