A follow-up of Kidskin Study participants provides an opportunity to investigate the associations between a childhood sun-exposure intervention and potentially related conditions in adulthood ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• January 2018

Among genes present in all group A streptococci (GAS), those encoding M-fibril and T-pilus proteins display the highest levels of sequence diversity, giving rise to the two primary serological typing schemes historically used to define strain. A new genotyping scheme for the pilin adhesin and backbone genes is developed and, when combined with emm typing, provides an account of the global GAS strain population. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• May 2024

Airway inflammation and infection are present from early in life, often before children are symptomatic. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• March 2015

This letter to the editor endorses data linkage studies and cites their potential value over other types of epidemiological studies within the field of... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• October 2015

This study demonstrates novel intrinsic differences in tight junctions gene and protein expression between airway epithelial cells of children with and without asthma ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• May 2018

Breakdown of mitochondrial proteostasis activates quality control pathways including the mitochondrial unfolded protein response (UPRmt) and PINK1/Parkin mitophagy. However, beyond the up-regulation of chaperones and proteases, we have a limited understanding of how the UPRmt remodels and restores damaged mitochondrial proteomes.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• September 2023

We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• March 2020

Advances in omics technologies have generated exponentially larger volumes of biological data; however, their analyses and interpretation are limited to computationally proficient scientists. We created OmicsVolcano, an interactive open-source software tool to enable visualization and exploration of high-throughput biological data, while highlighting features of interest using a volcano plot interface. In contrast to existing tools, our software and user-interface design allow it to be used without requiring any programming skills to generate high-quality and presentation-ready images. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021

Mitochondrial ribosomes are specialized for the synthesis of membrane proteins responsible for oxidative phosphorylation. Mammalian mitoribosomes have diverged considerably from the ancestral bacterial ribosomes and feature dramatically reduced ribosomal RNAs. The structural basis of the mammalian mitochondrial ribosome assembly is currently not well understood. Here we present eight distinct assembly intermediates of the human large mitoribosomal subunit involving seven assembly factors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• June 2021

The ability to balance conflicting functional demands is critical for ensuring organismal survival. The transcription and repair of the mitochondrial genome requires separate enzymatic activities that can sterically compete, suggesting a life-long trade-off between these two processes. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023