Zebrafish have the ability to regenerate damaged parts of their central nervous system (CNS) and regain functionality of the affected area. ...

• 1. Telethon Kids Institute
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• 2015
• August 2015

Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet. ...

• 1. Telethon Kids Institute
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• 2021
• September 2021

Melinda Judge, Erica Parker, Denise Naniche, Lucia Pastor, Kim W Carter, Denise Anderson, Peter LeSouëf.   This is the largest acute HIV cohort ...

• 1. Telethon Kids Institute
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The Childhood Leukemia International Consortium (CLIC) was established in 2007 to promote investigations of rarer exposures, gene-environment interactions... ...

• 1. Telethon Kids Institute
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• 2013
• June 2013

X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life. ...

• 1. Telethon Kids Institute
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• 2022
• May 2022

Cancer researchers at Perth's Telethon Institute for Child Health Research have discovered a genetic pattern that predicts the likelihood of relapse ...

• 1. Telethon Kids Institute
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• 2010
• March

The phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic... ...

• 1. Telethon Kids Institute
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• 2014
• April 2014

Cancer immunotherapy has shown impressive results, but most patients do not respond. ...

• 1. Telethon Kids Institute
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• 2015
• January 2015

Bioinformatician ...

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Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications.  ...

• 1. Telethon Kids Institute
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• 2024
• April 2024