Publications by authors named "Stuart Gillies"

Article Synopsis
  • The case study discusses a female patient diagnosed with achondroplasia due to an FGFR3 gene variant, but her symptoms indicated a more complex condition, prompting further genetic analysis.* -
  • Despite her initial diagnosis, the patient exhibited unusual features such as small head size, distinct facial characteristics, speech delay, and hearing loss, leading to her participation in extensive genetic research efforts.* -
  • Ultimately, the discovery of an EFTUD2 gene rearrangement revealed a second diagnosis of mandibulofacial dysostosis with microcephaly, marking a rare instance of dual genetic disorders in one individual and emphasizing the need for careful genetic evaluations.*
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Purpose: To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients.

Methods: A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients.

Results: The overall diagnostic yield was 60% demonstrating the power of this approach.

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Neuron-restrictive silencer factor (NRSF) and its isoforms are differentially regulated in rodent models of self-sustaining status epilepticus (SSSE). NRSF isoforms regulate genes associated with SSSE, including the proconvulsant tachykinins, brain-derived neurotrophic factor and multiple ion channels. NRSF isoforms may direct distinct gene expression patterns during SSSE, and the ratio of each isoform may be a causative factor in traumatic damage to the central nervous system.

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Cell-death programs executed in the pancreas under pathological conditions remain largely undetermined, although the severity of experimental pancreatitis has been found to depend on the ratio of apoptosis to necrosis. We have defined mechanisms by which apoptosis is induced in pancreatic acinar cells by the oxidant stressor menadione. Real-time monitoring of initiator caspase activity showed that caspase-9 (66% of cells) and caspase-8 (15% of cells) were activated within 30 min of menadione administration, but no activation of caspase-2, -10, or -12 was detected.

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Oxidative stress may be an important determinant of the severity of acute pancreatitis. One-electron reduction of oxidants generates reactive oxygen species (ROS) via redox cycling, whereas two-electron detoxification, e.g.

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The targeting in eukaryotic cells of cellular components to the lysosome or vacuole for degradation is called autophagy. Not only cytoplasmic macromolecules and bulk cytoplasm are subject to this process; entire organelles such as peroxisomes can be degraded. Autophagy of peroxisomes is called pexophagy.

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