Publications by authors named "M Cristina Parlato"

Vesicle trafficking and the establishment of apicobasal polarity are essential processes in epithelial morphogenesis. UNC45A deficiency has been reported in a multi-organ syndrome presenting with severe diarrhea associated with enterocyte polarity defects. Myosin 1b, an actin motor able to bind membranes, regulates membrane shaping and vesicle trafficking.

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Article Synopsis
  • Integrin alpha V is crucial for cell adhesion and signaling during development, and mutations in its gene (ITGAV) can lead to serious health issues.
  • In three families, biallelic variants were found that caused either dysfunctional protein production or the integrin being misplaced, resulting in severe developmental problems like eye and brain abnormalities, inflammatory bowel disease, and immune issues.
  • Studies in patient cells and zebrafish models confirmed these mutations resulted in impaired immune signaling and developmental defects, linking the ITGAV variants to a newly identified human disease.
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Interest in tracking and monitoring animals in livestock farming using wearable sensors has been steadily increasing. The use of these devices is particularly crucial in extensive livestock systems where direct interaction between animals and farmers is infrequent, necessitating strenuous efforts in long-distance herd monitoring. Internet of Things (IoT) technologies offer a promising solution to address the challenges posed by vast distances, enabling real-time and remote animal monitoring.

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An exome sequencing strategy employed to identify pathogenic variants in patients with pediatric-onset systemic lupus or Evans syndrome resulted in the discovery of six novel monoallelic mutations in PTPN2. PTPN2 is a phosphatase that acts as an essential negative regulator of the JAK/STAT pathways. All mutations led to a loss of PTPN2 regulatory function as evidenced by in vitro assays and by hyperproliferation of patients' T cells.

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The ability to locally deliver bioactive molecules to distinct regions of the skeleton may provide a novel means by which to improve fracture healing, treat neoplasms or infections, or modulate growth. In this study, we constructed single-sided mineral-coated poly-ε-caprolactone membranes capable of binding and releasing transforming growth factor beta 1 (TGF-β1) and human growth hormone (hGH). After demonstrating biological activity in vitro and characterization of their release, these thin bioabsorbable membranes were surgically implanted using an immature rabbit model.

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