Publications by authors named "F Benedicenti"
Article Synopsis
- Hematopoietic Stem Cell (HSC) gene therapy can potentially provide long-lasting treatment for various genetic blood disorders, but its effects in different patients are not fully understood.
- A study involving 53 patients with conditions like metachromatic leukodystrophy and β-thalassemia showed that the success of HSC gene therapy varies based on disease type, age, and extent of correction.
- The research identified that while half of the treated patients had stem cells with broad lineage potential, the other half showed specific preferences for producing certain types of blood cells based on their underlying conditions, indicating that HSC function adapts to disease circumstances.
Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs).
Methods: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing.
While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging men. These "selfish" mutations cause disorders with a shared presentation of features, including exclusive paternal origin, significant increase of the father's age, and high apparent germline mutation rate. To date, all known selfish mutations cluster within the components of the RTK-RAS-MAPK signaling pathway, a critical modulator of testicular homeostasis.
View Article and Find Full Text PDFArticle Synopsis
- - The study focuses on KBG syndrome (KBGS), a rare neurodevelopmental disorder caused by mutations in the ANKRD11 gene, exploring its clinical features in adults, which are less documented compared to children.
- - Researchers collected data on 36 adults with confirmed KBGS from various families and found symptoms such as mild intellectual disabilities, motor difficulties, psychiatric issues, and other health concerns like seizures and vision problems.
- - The findings reveal a diverse range of adult experiences and abilities related to education and employment, contributing to the understanding of long-term outcomes for individuals with KBGS.