Publications by authors named "Perugu R"
Article Synopsis
- - Griscelli syndrome type 2 (GS2) is a rare genetic disorder caused by a mutation in the RAB27A gene, leading to primary immunodeficiency and lighter skin and hair colors, with only 160 cases documented worldwide.
- - A case study of a seven-month-old boy from a consanguineous family reveals symptoms such as recurrent viral infections and silvery grey hair, leading to a diagnosis confirmed by microscopic hair examination and genome sequencing.
- - The article emphasizes the rarity of GS2, its similarities with malnutrition-related symptoms, the difficulties in diagnosing it, and explores potential treatment options available.
Object: Cells that lose their ability to undergo apoptosis may promote the development of neoplasms and result in resistance to clinical treatment with DNA-damaging modalities such as radio- and chemotherapy. Four established human glioma cell lines that are resistant to apoptosis were transfected with the proapoptotic gene bax and assessed for their sensitivity to a proapoptotic stimulus.
Methods: Two cell lines had a wild-type p53 genotype (U87 and D247MG) and two had mutant p53 genotypes (U138 and U373).