Publications by authors named "N S Jones"

Loss of the gene encoding the histone acetyltransferase KAT6B (MYST4/MORF/QKF) causes developmental brain abnormalities as well as behavioral and cognitive defects in mice. In humans, heterozygous variants in the gene cause two cognitive disorders, Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS; OMIM:603736) and genitopatellar syndrome (GTPTS; OMIM:606170). Although the effects of homozygous and heterozygous mutations have been documented in humans and mice, KAT6B gain-of-function effects have not been reported.

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Planetary health education needs fresh approaches to engage learners and educators in positive visions and future planning to navigate the societal challenges of climate change. The human health impacts of the climate crisis, environmental degradation and pollution are far-reaching and compounding in nature. International leaders in healthcare are recognizing the time-pressured opportunity to mobilize and motivate colleagues to optimize health outcomes by addressing these issues.

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Adolescence is a period of growth in cognitive performance and functioning. Recently, data-driven measures of brain-age gap, which can index cognitive decline in older populations, have been utilized in adolescent data with mixed findings. Instead of using a data-driven approach, here we assess the maturation status of the brain functional landscape in early adolescence by directly comparing an individual's resting-state functional connectivity (rsFC) to the canonical early-life and adulthood communities.

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Purpose Of Review: This review will focus on the current usage and the potential future applications of new imaging techniques on the horizon to study overactive and neurogenic bladder.

Recent Findings: Bladder Near-Infrared Spectroscopy (NIRS) has been used to non-invasively identify bladder outlet obstruction, detrusor overactivity, and other forms of voiding dysfunction, but motion artifact has been a limiting factor preventing widespread adaptation. However, newer NIRS units employ accelerometers which enable isolation and splicing of motion and on-going studies show renewed promise for bladder NIRS.

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Ageing is associated with a range of chronic diseases and has diverse hallmarks. Mitochondrial dysfunction is implicated in ageing, and mouse-models with artificially enhanced mitochondrial DNA mutation rates show accelerated ageing. A scarcely studied aspect of ageing, because it is invisible in aggregate analyses, is the accumulation of somatic mitochondrial DNA mutations which are unique to single cells (cryptic mutations).

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