Browsing by Author "Thirumal Kumar, D."
Now showing items 21-24 of 24
-
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha, P; Zenith, Tanzila U; Abu Habib, Ummay Salma; Evangeline, Judith; Thirumal Kumar, D; George Priya Doss, C; Siva, R; Zayed, Hatem... more authors ... less authors ( Springer US , 2018 , Article)Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the mutations in survival motor neuron 1 gene (SMN1). The molecular pathology of missense mutations in SMN1 is not thoroughly investigated so far. Therefore, ... -
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
Ibrahim, Ali Zaki; Thirumal Kumar, D; Abunada, Taghreed; Younes, Salma; George Priya Doss, C; Zaki, Osama K; Zayed, Hatem... more authors ... less authors ( 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 ... -
Molecular characterization of circadian gene expression and its correlation with survival percentage in colorectal cancer patients
Ankur, Datta; R., Hephzibah Cathryn; Udhaya Kumar, S.; Vasudevan, Karthick; Thirumal Kumar, D.; Zayed, Hatem; George Priya Doss, C.... more authors ... less authors ( Elsevier , 2023 , Book chapter)Colorectal cancer (CRC) is a form of cancer characterized by many symptoms and readily metastasizes to different organs in the body. Circadian rhythm is one of the many processes that is observed to be dysregulated in ... -
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
Thirumal Kumar, D; Jain, Nikita; Udhaya Kumar, S; Jena, Prangya Paramita; Ramamoorthy, Siva; George Priya Doss, C; Zayed, Hatem... more authors ... less authors ( Taylor & Francis , 2020 , Article)Krabbe disease (KD), also known as globoid cell leukodystrophy disease, is an autosomal recessive lysosomal storage genetic disorder, which is caused by the deficiecncy of galactocerebrosidase (GALC) coding gene (). This ...