Publications by authors named "Margherita Bonuglia"

Article Synopsis
  • The study investigates the role of ERE1 retrotransposons in horses, focusing on how their insertion polymorphism can influence genetic variation and function, particularly regarding the myostatin gene related to muscle development.
  • It finds that ERE1 elements' similarity to their consensus sequence indicates their evolutionary age, and their positioning suggests some may serve functional purposes.
  • The research concludes that ERE1 insertion in the myostatin promoter is linked to sport performance in horses, implying its potential use in breeding practices to enhance racing abilities.
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Objective: The development of atherosclerotic lesions associates with the proliferation of vascular smooth muscle cells (VSMC), and their migration from arterial tunica media to the intima. Fibroblast growth factor (FGF)-2 can trigger either phenomena, which are accompanied by the functional impairment of the p53 transcription factor. However, FGF-2 impact on p53 function in VSMC is largely unknown.

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Microsatellites have been used for parentage testing and individual identification in forensic science because they are highly polymorphic and show abundant sequences dispersed throughout most eukaryotic nuclear genomes. At present, genetic testing based on DNA technology is used for most domesticated animals, including horses, to confirm identity, to determine parentage, and to validate registration certificates. But if genetic data of one of the putative parents are missing, verifying a genealogy could be questionable.

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Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway, and a number of mutations have been described for the corresponding gene (PPOX). Here we report a genetic analysis of VP in Italy, and the identification of six novel and three previously characterised mutations from nine affected individuals and families.

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