Publications by authors named "M Balasubramanian"

Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
View Article and Find Full Text PDF

Fetus in fetu (FIF) is a rare anomaly characterized by the presence of a monozygotic twin that becomes incorporated into the abdomen of its sibling during fetal development. FIF is a rare congenital condition typically identified in infancy. We present a case of FIF in a 16-year-old male, which is an extremely rare presentation during adolescence.

View Article and Find Full Text PDF

Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists.

View Article and Find Full Text PDF

Purpose: Current denture base resins lack adequate strength and antimicrobial properties, necessitating the exploration of alternative solutions. The purpose of this study was to evaluate the effects of curcumin incorporation on the physico-mechanical properties of heat-cured denture base resin, filling a gap in the literature regarding this correlation.

Methods: Heat-cured denture base resin was supplemented with increasing concentrations of curcumin (CR).

View Article and Find Full Text PDF

We present the reductive homologation of nitroalkanes through the utilization of the denitrative aminoalkylation reaction. This transformation is accomplished by the radical-radical coupling of alkyl radicals derived from nitroalkanes and persistent aminoalkyl radicals. By capitalizing on the diverse α-functionalization of nitroalkanes, α,β-multifunctionalized amines can be readily accessed.

View Article and Find Full Text PDF