The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• September 2019

To introduce a disease prognosis framework enabled by a robust classification scheme derived from patient-specific transcriptomic response to stimulation. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• November 2017

In comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed. ...

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

We employed a systems biology approach to delineate upper airway gene network patterns underlying asthma exacerbation phenotypes in children. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• November 2017

This study aimed to acquire nationally representative epidemiological data on GAS in Australia to scope the appropriate age for vaccination with a potential... ...

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

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially. ...

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

The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• April 2022

Given that the transcriptional regulatory activity of estrogen receptor (ER) is modulated by its biochemical cofactors, genetic variation within the ER... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• August 2012

Sarcomeric gene mutations are associated with the development of hypertrophic cardiomyopathy (HCM). Current drug therapeutics for HCM patients are effective in relieving symptoms, but do not prevent or reverse disease progression. Moreover, due to heterogeneity in the clinical manifestations of the disease, patients experience variable outcomes in response to therapeutics. ...

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

Research has proposed that autistic-like traits in the general population lie on a continuum, with clinical ASD representing the extreme end of this... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• October 2013

Effective antitumor CD8 T cell responses may be activated by directly targeting the innate immune system within tumors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• February 2008

RNA-binding proteins and mitochondrial ribosomes have been found to be linchpins of mitochondrial gene expression in health and disease. The expanding repertoire of proteins that bind and regulate the mitochondrial transcriptome has necessitated the development of new tools and methods to examine their molecular functions. ...

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