Publications by authors named "Fiorenza Mioli"
Article Synopsis
- - Hepatocellular adenomas (HAs) are liver tumors linked to genetic mutations, with this study focusing on a 17-year-old with multiple HAs and a specific pathogenic mutation known to have a dominant negative effect.
- - The study identified additional somatic variants in some HAs and revealed significant transcriptomic changes, including alterations in various metabolic pathways, angiogenesis, and immune response.
- - Findings provide a detailed molecular profile of HAs associated with the identified mutation, paving the way for possible non-surgical treatment strategies by pinpointing new therapeutic targets.
Background: Cystic kidney disease is a heterogeneous group of hereditary and non-hereditary pathologic conditions, associated with the development of renal cysts. These conditions may be present both in children and adults. Cysts can even be observed already during the prenatal age, and pediatric patients with cysts need to be clinically monitored.
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- The study investigates a novel nonsense variant in the CASR gene that affects calcium sensing and is linked to hypocalcemia in a patient.
- Experiments comparing the mutant CASR receptor to the wild-type show the mutant has a lower molecular weight and higher baseline activity despite being less responsive to increases in extracellular calcium levels.
- The findings confirm that the Q967* variant leads to an overactive receptor, which aligns with the patient's symptoms, suggesting key regulatory elements are located in the cytoplasmic tail of the receptor.
Background: In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ transplantation. We exploited a clinical exome sequencing approach, followed by analyses of in silico gene panels tailored to clinical suspicions, obtaining detection rates in line with what reported in literature. However, a percentage of patients remains without a definitive genetic diagnosis.
View Article and Find Full Text PDFDespite advances in immunosuppression therapy, acute rejection remains the leading cause of graft dysfunction in lung transplant recipients. Donor-derived cell-free DNA is increasingly being considered as a valuable biomarker of acute rejection in several solid organ transplants. We present a technically improved molecular method based on digital PCR that targets the mismatch between the recipient and donor at the locus.
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