Upper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium ...

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

Article Title Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S,Davis M, Leonard H, Ravine D, Wu X. What does the nature of the MECP2 ...

• Rett syndrome and Related Disorders
• Our Research
• Research snapshots

QuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications ...

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

We report a role for the mitochondrial single-stranded DNA binding protein (mtSSB) in regulating mitochondrial DNA (mtDNA) replication initiation in mammalian mitochondria. Transcription from the light-strand promoter (LSP) is required both for gene expression and for generating the RNA primers needed for initiation of mtDNA synthesis. ...

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

These data suggest that altered methylation of CpG loci within SLC6A4 may provide a robust marker of adiposity across the life course ...

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

We identified the existence of more than 290 clinically associated genomic phylogroups across 22 countries, highlighting challenges in designing vaccines of global utility ...

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

This paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• June 2014

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• February 2007

These observations suggest factors in the modern environment promote pancreatic islet autoimmunity and destruction of insulin-producing beta cells. ...

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

Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• March 2010