IRCCS San Raffaele Scientific Institute Showcase

raw data and images for the genertion of the figures in the manuscript "Ceruloplasmin administration in the preclinical mouse model of aceruloplasminemia reveals a sex-related variation in biodistribution" by Belloli S, Monterisi C, Rainone P, Coliva A, Zanardi A, Conti A, Caricasole A, Moresco RM, Alessio M. (Published in Communications Biology, 2025)

These datasets include levels of whole blood RNA features selected by machine learning algorithms and applied to distinct train and test cohorts of patients with clinically isolated syndromes, multiple sclerosis and healthy controls recruited and analyzed for the project Grant RF-2018- 12367731 that was funded by the Italian Ministry of Health.

Data referred to the study financed by the Ministry of Health (RF-2018-12367731) and published in the article https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1436717/full

Data related to manuscript "HNF4α, SP1 and c-myc are master regulators of CNS autoimmunity" by Colombo et al, J Autoimmun. 2023 Jul;138:103053. doi: 10.1016/j.jaut.2023.103053.

Infertility affects almost 15–20% of couples of reproductive age in Western countries, and a pure male factor is responsible for about half of these cases. Despite infertile men show a poorer general health status compared to age-matched fertile men, a comprehensive understanding of the association between infertility and the overall impoverishment of men's health was still lacking. In the manuscript “Specific types of male infertility are correlated with T cell exhaustion or senescence signatures" (doi.org/10.1038/s41467-025-56193-2), we investigated the immune system of primary infertile men. We showed that both the semen and blood of these subjects exhibit a pro-inflammatory status resembling the one found in elderly men, suggesting that infertility could be linked to early aging of the immune system. The datasets loaded contain all the clinical and immunological data supporting our conclusions and that have been used to build the main and supplementary figures/tables of the manuscript. An additional file (raw_data_description) contains the main guidelines to correctly associate the raw data with the corresponding figure/table in the manuscript.

Database for patients included in the prospective phase 2 study PSMA-RGS (GR2018-12368369). Data dictionary is included in the name of the variables and the coding is separated by an underscore. Enclosed you can also find a CSV file with the coding.

Introduction: Autosomal recessive osteopetrosis (ARO) is a rare genetic disease, characterized by increased bone density due to defective osteoclast function. Most of the cases are due to TCIRG1 gene mutation, leading to severe bone phenotype and death in the first years of life. The standard therapy is the hematopoietic stem cell transplantation (HSCT), but its success is limited by several constraints. Conversely, gene therapy (GT) could minimize the immune-mediated complications of allogeneic HSCT and offer a prompt treatment to these patients. Methods: The Tcirg1-defective oc/oc mouse model displays a short lifespan and high bone density, closely mirroring the human condition. In this work, we exploited the oc/oc neonate mice to optimize the critical steps for a successful therapy. Results: First, we showed that lentiviral vector GT can revert the osteopetrotic bone phenotype, allowing long-term survival and reducing extramedullary haematopoiesis. Then, we demonstrated that plerixafor-induced mobilization can further increase the high number of HSPCs circulating in peripheral blood, facilitating the collection of adequate numbers of cells for therapeutic purposes. Finally, pre-transplant non-genotoxic conditioning allowed the stable engraftment of HSPCs, albeit at lower level than conventional total body irradiation, and led to long-term survival and correction of bone phenotype, in the absence of acute toxicity. Conclusion: These results will pave the way to the implementation of an effective GT protocol, reducing the transplant-related complication risks in the very young and severely affected ARO patients.

This paper is associated to the project "Clinical and brain functional MRI effects of a rehabilitative training of upper limb using immersive virtual reality in people with Parkinson's Disease" supported by Italian Ministry of Health, with the grant GR-2018-12366005. In these datasets, data shuffling techniques have been applied to randomize certain data fields to enhance the anonymity of individuals and protect sensitive information. This measure is part of our commitment to data privacy and security, ensuring that personal identification is not possible from the data provided.

Obesity and frailty are prevalent geriatric conditions that share some pathophysiological mechanisms and are associated with adverse clinical outcomes. The relationship between frailty, obesity, and polymorphism remains inadequately explored. Single nucleotide polymorphisms (SNPs) offer insights into genetic predispositions that may influence the development of both frailty and obesity. SNPs related to frailty and linked to the renin–angiotensin system (CYP11B2 rs1799998, AGT rs5051, and AGTR1 rs2131127), apoptosis pathways (CASP8 rs6747918), growth hormone signaling (GHR rs6180), inflammation (TLR4 rs5030717, CD33 rs3865444, and sFN1 rs7567647), adducin (ADD3 rs3731566), and the 9p21–23 region (rs518054) were found to be associated with various measures of obesity in community-dwelling older adults.

The reported raw data are about i) characterization of gold nanorods and ii) hyperthermia experiments carried out in the absence and presence of GNRs as well as well as in the absence and presence of bladder tumor. These data can be used together with those summarized in the supplementary Table S1 and S2 present in the manuscript.