Publications by authors named "P Fortugno"

Article Synopsis
  • - X-linked acrogigantism (X-LAG) is a serious genetic condition caused by duplications on chromosome X that affect the GPR101 gene, leading to excessive growth due to misexpression of this gene in the pituitary gland.
  • - The researchers used advanced genomic techniques, specifically 4C/HiC-seq, to examine the impact of GPR101 duplications on the functional structure of the genome in families with these duplications, finding that some did not create harmful changes.
  • - The study emphasizes the significance of chromatin interactions and boundaries in understanding genetic disorders and demonstrates the utility of 4C/HiC-seq in genetic counseling and clinical decision-making for suspected TADopathies.
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This study aimed to investigate the effects of feeding dried bergamot pulp to rabbits on animal performance and meat quality. Thirty rabbits were assigned to two groups (balanced for body weight, 804.4 ± 2.

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Inborn errors of metabolism (IEMs) comprise a diverse group of monogenic disorders caused by enzyme deficiencies that result either in a toxic accumulation of metabolic intermediates or a shortage of essential end-products. Certain IEMs, like phenylketonuria (PKU), necessitate stringent dietary intervention that could lead to microbiome dysbiosis, thereby exacerbating the clinical phenotype. The objective of this systematic review was to examine the impact of PKU therapies on the intestinal microbiota.

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The main objective of this study was to evaluate if high dietary levels of almond hulls could influence performance and meat oxidative stability in lambs. Twenty lambs, at an average body weight of 28.8 ± 0.

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