Aberrant recursive splicing in a human disease locus.

Recursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity, especially for long, brain-expressed genes. The necessity of this unique mechanism remains unsubstantiated, as does the role of recursive splicing (RS) in human disease. From analyses of rare copy number variants (CNVs) from almost one million individuals, we previously identified large, heterozygous deletions eliminating an RS site (RS1) in the first intron of that conferred substantial risk for attention deficit hyperactivity disorder (ADHD) and other neurobehavioral traits.

Community reintegration of persons with traumatic spinal cord injury in Northern India: a cross-sectional study.

Since early interventions have improved survival in traumatic spinal cord injury (TSCI), there is a shift toward addressing long-term outcomes like community reintegration and social participation. Despite its importance, community reintegration remains under-researched, particularly in Northern India. This study aims to explore societal reintegration in people with TSCI in Northern India using the Craig Handicap Assessment and Reporting Technique-Short Form (CHART-SF).

Impact of Molecular and Cytogenetic Responses on Long-Term Outcomes in Children and Adolescents With Chronic Myeloid Leukemia: A Retrospective Study From India.

Introduction Chronic myelogenous leukemia (CML) in pediatric and adolescent populations is relatively rare. The present study provides an integrated approach to evaluate the impact of molecular and cytogenetic response on long-term outcomes in these populations by incorporating demographic factors and hematological parameters, and to explore their clinical relevance in resource-limited settings. Material and methods A retrospective analysis was conducted on patients <18 years with newly diagnosed CML from January 2014 to December 2023 at the Gujarat Cancer and Research Institute in India.

Atomically Dispersed Ru Catalyst Locked in Knitting Aryl Network Polymers: A Robust Heterogeneous Catalyst for Borrowing Hydrogenation in Aqueous Micelles.

Fabrication of water-stable and atomically dispersed ruthenium catalysts for sustainable borrowing hydrogenation (BH) reactions is a long-standing challenge. Herein, we developed an atomically dispersed Ru catalyst that has been successfully employed for BH reactions in aqueous micelles under mild conditions. The micellar cooperativity with the hydrophobic knitted aryl polymers (KAPs) led to the formation of microconfinements, which act as the confined space for catalysis in water.

Mechanistic Divergence in Sulfur-Ligated Iron(III)-Alkylperoxo Reactivity: Aldehyde Oxidation Prevails over Deformylation.

Metalloenzymes activate molecular oxygen within their catalytic cycles to generate a reactive species capable of substrate transformation. In many iron-containing enzymes, it is a high-valent iron(IV)-oxo complex that is synthesized from an iron(III)-alkylperoxo intermediate, although direct observation and characterization of such species have remained elusive, leaving their mechanistic role uncertain. To address this gap in our understanding, we present here the synthesis, comprehensive characterization, and reactivity of a novel thioether-ligated iron(III)-alkylperoxo complex supported by the ligand 2-((2-(pyridin-2-yl)ethyl)thio)-N,N-bis(pyridin-2-ylmethyl)ethan-1-amine.