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السجلات المعروضة 11 -- 13 من 13
Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
(
Elsevier
, 2020 , Article)
Sjögren-Larsson syndrome (SLS) is an autoimmune disorder inherited in an autosomal recessive pattern. To date, 80 missense mutations have been identified in association with the Aldehyde Dehydrogenase 3 Family Member A2 ...
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
(
Elsevier
, 2020 , Article)
Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the or genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA ...
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 ...