Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.

Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.

Design: Retrospective observational study.

Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021.

Synthesis and Characterization of N-Doped Carbon Quantum Dots and its Application for Efficient Delivery of Curcumin in Live Cell.

To improve bioavailability, enhance the solubility and stability of the hydrophobic drug curcumin, nanoparticles such as carbon quantum dots (CQDs) are unique choices. In this study, we present a simple, cost-effective, and eco-friendly method for synthesizing nitrogen-doped carbon quantum dots (N-CQDs) and their application in the efficient delivery of hydrophobic drugs curcumin into live cancer cells. The N-CQDs produced in this study exhibit excellent water solubility, remarkable stability, and high biocompatibility.

Transcription factors form a ternary complex with NIPBL/MAU2 to localize cohesin at enhancers.

While the cohesin complex is a key player in genome architecture, how it localizes to specific chromatin sites is not understood. Recently, we and others have proposed that direct interactions with transcription factors lead to the localization of the cohesin-loader complex (NIPBL/MAU2) within enhancers. Here, we identify two clusters of LxxLL motifs within the NIPBL sequence that regulate NIPBL dynamics, interactome, and NIPBL-dependent transcriptional programs.

Fibrin-glue-assisted retinopexy for coloboma-associated retinal detachment.

Background: Retinal detachment (RD) is common (23%-40%) in eyes with uveal coloboma due to early vitreous syneresis, inherent defects at the locus minoris resistentiae, and breaks in intercalary membrane (ICM).[1] Managing eyes with coloboma RD is difficult due to complexity of accessing and repairing retinal breaks. In RD surgeries, tamponade agents are used to provide surface tension across retinal breaks to prevent further fluid flow into the subretinal space until the effect of retinopexy is permanent.

A high-throughput protein tagging toolkit that retains endogenous UTRs for studying gene regulation in Kinetoplastids.

Kinetoplastid parasites cause diseases that threaten human and animal health. To survive transitions between vertebrate hosts and insect vectors, these parasites rely on precise regulation of gene expression to adapt to environmental changes. Since gene regulation in Kinetoplastids is primarily post-transcriptional, developing efficient genetic tools for modifying genes at their endogenous loci while preserving regulatory mRNA elements is crucial for studying their complex biology.