A5002122615- Hearing, Cochlea, Tinnitus, Genetics
- Childhood Cancer Survivors' Quality of Life
- Kruppel-like factors research
- Cell Adhesion Molecules Research
- Lymphatic Disorders and Treatments
- PI3K/AKT/mTOR signaling in cancer
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Vascular Malformations and Hemangiomas
University of Genoa
2025
Istituto Giannina Gaslini
2022-2024
University of Coimbra
2022
CAPRIN1 gene encodes a RNA-binding protein, abundant in the brain where it plays crucial role, regulating transport and translation of mRNAs synaptic proteins.CAPRIN1 haploinsufficiency causes neurodevelopmental disorder characterized by language impairment/speech delay, intellectual disability, attention deficit, hyperactivity disorder, autism spectrum disorder. To understand pathogenesis this view future treatment, we generated human induced pluripotent stem cells (iPSCs) from patient...
Sotos syndrome (SoS) is a neurodevelopmental disorder that results from NSD1 mutations cause haploinsufficiency of NSD1. Here, we generated an induced pluripotent stem cell (iPSC) line fibroblasts SoS patient carrying the pathogenic variant (c.1633delA). The shows typical iPSC morphology, high expression markers, normal karyotype, and it differentiates into three germ layers in vitro. This valuable resource for studying pathological pathways involved SoS.
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of deletion. Here, we describe 2 patients overlapping de novo deletions, characterized by array-CGH. This is smallest region overlap described in literature encompassing only 9 genes (SLC4A10, DPP4, GCG, FAP, IFIH1, GCA, KCNH7, FIGN, GRB14). We focused our attention SLC4A10, and neurological features. Our presented similar features: intellectual...