Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality. Over the past decade, remarkable strides have been made in the field of SMA therapeutics, revolutionizing the landscape of patient care. One pivotal advancement is the development of gene-targeted therapies, such as nusinersen, onasemnogene abeparvovec and risdiplam which have demonstrated unprecedented efficacy in slowing disease progression.
View Article and Find Full Text PDFIntroduction: The mutational changes in Polycystin-1(PC-1) encoded by PKD1 gene is the main cause of Autosomal Dominant Polycystic kidney disease (ADPKD). The pathological changes in renal epithelial cells and multiple cyst formation occur due to activation of cascade of signalling pathways and membrane renal transporters (RTs). Our study have focused on the identification, of different RTs, their interactions with Polycystin-1 and other selected target proteins to find out their role in pathogenesis.
View Article and Find Full Text PDFThe structural and physico-chemical properties that account for the multi-functionality of dehydrins remain largely unknown. In this study, we identified, sequenced and cloned a stress regulated cDNA encoding a dehydrin-like boiling stable protein (designated as wBsSRP; wheat boiling stable stress responsive protein) from drought stressed seedlings of drought tolerant cultivar of wheat (PBW 175). qRT-PCR analysis documented high transcripts levels of wBsSRP during drought and cold conditions in the tolerant cv.
View Article and Find Full Text PDFInt J Bioinform Res Appl
January 2016
Owing to their sessile nature, plants experience a variety of environmental stresses, but tolerance to these adverse conditions is a very complex phenomenon. Among all stresses, heat stress is the most important constraint that affects plant yield in rain-fed areas. To shed some light on candidate genes involved in heat stress, sequences potentially associated with heat shock resistance were retrieved and identified by in silico analysis using the public sequence database of various plants.
View Article and Find Full Text PDFInt J Bioinform Res Appl
March 2014
MicroRNAs (miRNAs) are small endogenous genes regulators which regulate different processes underlying plant adaptation to abiotic stresses. To gain a deep understanding of role of miRNAs in plants, in the present study, we computationally analyzed different sorghum miRNAs in the drought-induced gene sequences. Homologous miRNA were identified using different plant miRNA databases.
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