Publications by authors named "Johanna Jones"

The mitochondrion is an essential cell organelle known as the powerhouse of the cell. Mitochondrial ribosomal proteins (MRPs) are nuclear encoded, synthesised in the cytoplasm but perform their main functions in the mitochondria, which includes translation, transcription, cell death and maintenance. However, MRPs have also been implicated in cancer, particularly advanced disease and metastasis across a broad range of cancer types, where they play a central role in cell survival and progression.

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Zebrafish are an outstanding model for assessing the involvement of genes in paediatric cataracts. Gene discovery for cataracts is enhanced by manipulation of the genome of zebrafish embryos and comparing the phenotypes of mutant progeny with the wildtype embryos. However, wildtype laboratory fish can also develop cataracts, potentially confounding the results.

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Background: Drug eluting balloons (DEB) are a feasible method of rapid delivery of drug to a coronary vessel wall. Their efficacy has been established for the treatment of in-stent restenosis and small vessel disease but there is limited data for their use in bifurcation lesions.

Objective: The aim of this study was to assess the effectiveness of provisional upfront side-branch DEB use in bifurcation lesions compared to a simple balloon (POBA) or upfront 2 stent bifurcation strategy.

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Objective: Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variants likely to be causative of disease in an Australian patient cohort.

Methods And Analysis: Sixty-three reported isolated cataract genes were screened for rare coding variants in 37 Australian families using genome sequencing.

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Objective: The study aimed to determine the predictors of procedural failure (coronary cannulation) in patients undergoing coronary angiography ± percutaneous coronary intervention (PCI) from the transradial (TR) approach.

Methods: We conducted an observational study of 20,315 consecutive patients undergoing TR angiography between 2016 and 2020. TR failure was described as inability to cannulate the coronary arteries.

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Sexual violence (SV) is a pernicious issue that disproportionally impacts girls and women. Although few initiatives have demonstrated effectiveness in leading to reductions in SV, global health organizations have identified empowerment-based programs as a promising approach to SV prevention. The purpose of this article is to discuss the Girls Leadership Academy (GLA), a program of the Nebraska's Women's Center for Advancement, which is a "homegrown," theoretically grounded, practice-based SV prevention program for adolescent girls.

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The transradial access approach is a well-established route for coronary angiography and percutaneous intervention, given its lower complication rate over the transfemoral route. However, complications are still apparent, some of which can lead to serious injury. We report a case of delayed diagnosis of localized compartment syndrome, caused by haematoma and pseudoaneurysm formation following a radial procedure which resulted in long term disability.

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Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye's crystalline lens. Here we report an Australian family with isolated paediatric cataract, which we had previously mapped to Xq24. Linkage at Xq24-25 (LOD = 2.

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Cataract is the leading cause of blindness worldwide. Congenital or paediatric cataract can result in permanent visual impairment or blindness even with best attempts at treatment. A significant proportion of paediatric cataract has a genetic cause.

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