QIMR Berghofer Medical Research Institute

Genome-Wide Association Study of Corneal Dystrophy Uncovers Novel Risk Loci and Enables Improved Polygenic Prediction of Fuchs Endothelial Corneal Dystrophy

Abstract Objective To identify risk loci for Fuchs endothelial corneal dystrophy (FECD) and improve a genetic risk prediction model. Design Genome–wide association study (GWAS), polygenic risk score (PRS) construction, and TCF4 CTG18.1 short tandem repeat (STR) length inference....

Evidence-based recommendations for application of construct-based splicing data in clinical variant classification

<title>Abstract</title> Background: Minigene RT-PCR assays are widely used to assess variant impact on splicing, with increasing reports of massively parallel splicing assays (MPSAs) demonstrating potential to upscale diagnostic use of construct-based data. This study conducted a...

Genetic Ablation and Multi‐Omics Profiling Reveal CEP55 as a Key Driver of Tumorigenesis in Diverse Cancer Models

ABSTRACT CEP55, a centrosomal protein frequently overexpressed in multiple cancers, is implicated in regulation of genomic instability and PI3K/AKT pathway activation, yet its role in tumor progression and the tumor microenvironment remains incompletely defined. Here, we develope...

Development and validation of a real-time polymerase chain reaction for the detection of Haycocknema perplexum.

dilution (Ct value 39.6) for SSU-PCR, making the latter a more sensitive assay for detecting lower concentrations of organism in the patient biopsy. The sensitivity of fresh frozen samples was superior to FFPE samples. All but one sample was negative following treatment. Feasibil...

β1- and β2-adrenergic receptor mediated spontaneous contractions and ryanodine receptor channel opening in human failing heart

Abstract In heart failure, β-adrenergic receptor (β-AR)-Gsα-cAMP-protein kinase A (PKA) signalling predisposes to delayed-afterdepolarisation-mediated arrhythmias. Phosphodiesterases (PDEs) hydrolyse cAMP, and PDE3 restrains β 1 -AR, β 2 -AR-mediated inotropic responses in failin...