Publications by authors named "G D Ball"

Gene‒gene interactions play pivotal roles in disease pathogenesis and are fundamental in the development of targeted therapeutics, particularly through the elucidation of oncogenic gene drivers in cancer. The systematic analysis of pathways and gene interactions is critical in the drug discovery process for various cancer subtypes. SPAG5, known for its role in spindle formation during cell division, has been identified as an oncogene in several cancers, although its specific impact on AML remains underexplored.

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Article Synopsis
  • The study investigates the impact of neurodevelopmental disorders (NF1, TSC, FXS, and NS) on brain volume, particularly focusing on global and subcortical structures, to understand disease mechanisms.
  • A meta-analysis of 23 studies involving 1,556 subjects revealed that NF1 and FXS are associated with larger brain volumes, while NS shows smaller brain volumes.
  • Notably, TSC showed no significant differences in brain volume compared to typical controls, with no moderating effects from age, sex, or IQ observed across studies.
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Background: International Dermatology Outcome Measures (IDEOM) is a non-profit organization whose mission is to improve the availability of evidence-based, consensus-driven outcome measures for dermatological diseases. IDEOM facilitates collaboration between stakeholders from various backgrounds, including researchers, patients, physicians, and industry representatives, to develop objective benchmark metrics that enable better treatment and management of dermatologic conditions.

Summary: The 2023 IDEOM Annual Meeting was held June 23-24, 2023.

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Article Synopsis
  • * A case was reported of a 52-year-old woman with extensive LP covering 80% of her body, which improved significantly to 20% after two months of treatment with the JAK inhibitor deucravacitinib.
  • * Deucravacitinib uniquely targets a specific part of the immune response (tyrosine kinase 2), providing a potentially safer and more effective long-term treatment alternative for chronic skin conditions like LP.
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Over the first few months after birth, the typical emergence of spontaneous, fidgety general movements is associated with later developmental outcomes. In contrast, the absence of fidgety movements is a core feature of several neurodevelopmental and cognitive disorders. Currently, manual assessment of early infant movement patterns is time consuming and labour intensive, limiting its wider use.

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