Publications by authors named "M Cowley"
Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. Cyst pathogenesis is not definitively understood. Somatic second-hit mutations have been implicated in cyst pathogenesis, though technical sequencing challenges have limited investigation.
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- The melanocortin system plays a crucial role in controlling energy balance and weight regulation, with recent findings indicating its effects on peripheral tissues like skeletal muscle, independent of the brain or SNS.
- Infusing α-melanocyte-stimulating hormone (αMSH) directly into the femoral artery significantly increased heat production in skeletal muscle, while not affecting food intake, demonstrating its local action in energy expenditure.
- The study also revealed that αMSH infusion enhanced mitochondrial function, increased glucose uptake in skeletal muscle, and showed that blocking SNS with certain drugs did not impact αMSH's effects, highlighting its unique role in energy regulation.
Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous system tumours in children but only very rarely associated with high-grade gliomas. Here we describe the first reported case of a spinal high-grade astrocytoma with piloid features (HGAP) in a child with NS. This case was a diagnostic and treatment dilemma, prior to whole-genome germline and tumour sequencing, tumour transcriptome sequencing and DNA methylation analysis.
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- - Food cravings are a strong desire for tasty foods that can lead to obesity, as they aren't just related to hunger but to complex emotional and psychological factors, making standard weight management approaches inadequate.
- - A review of 115 studies highlighted the biological and psychological factors driving cravings, as well as current measurement and management strategies, including lifestyle changes, psychological therapies (like CBT), and certain medications that can help control cravings.
- - The research suggests a need for a new, flexible model for addressing food cravings in weight management settings that can adapt to individual needs over time for effective long-term weight loss.
Background: The growth factor receptor bound protein 7 (Grb7) family of signalling adaptor proteins comprises Grb7, Grb10 and Grb14. Each can interact with the insulin receptor and other receptor tyrosine kinases, where Grb10 and Grb14 inhibit insulin receptor activity. In cell culture studies they mediate functions including cell survival, proliferation, and migration.
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