San Raffaele Open Research Data Repository
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162 research outputs found
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PSMA-RGS (GR2018-12368369)
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
Ceruloplasmin variants might have different effects in different iron overload disorders.
Raw images and dataset of densitometric analysis used for the generation of the figure 1 of the paper by Pelucchi S, Ravasi G, Piperno A. Ceruloplasmin variants might have different effects in different iron overload disorders. J Hepatol. 2021, 75:1003-1004. doi: 10.1016/j.jhep.2021.05.005.
This paper is associated to the project "Blood-cerebrospinal fluid-barrie defect as gate for targeting by liver-directed ceruloplasmin gene replacement therapy in the rare disease aceruloplasminemia" supported by Italian Ministry of Health, with the grant RF-2018-1236671 to Massimo ALESSIO as principal investigator at the IRCCS-San Raffaele Hospital, Milano, Italy
Baseline and longitudinal clinical features of people with PD (Grant RF-2018-12366746)
This large dataset includes raw clinical data of patients with Parkinson's disease and healthy controls recruited and analyzed for the project Grant RF-2018-12366746 that was funded by the Italian Ministry of Health
DNA polymorphisms in inflammatory and endocrine signals linked to frailty are also associated with obesity: data from the FRASNET cohort
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
Dual specificity kinase DYRK3 regulates cell migration by influencing the stability of protrusions
Plasma membrane-associated platforms (PMAPs) form at specific sites of plasma membrane by scaffolds including ERC1 and Liprin-1. We identify a mechanism regulating PMAPs assembly, with consequences on motility/invasion. Silencing Ser/Thr kinase DYRK3 in invasive breast cancer cells inhibits their motility and invasive capacity. Similar effects on motility were observed by increasing DYRK3 levels, while kinase-dead DYRK3 had limited effects. DYRK3 overexpression inhibits PMAPs formation nad has negative effects on stability of lamellipodia and adhesions in migrating cells. Liprin-1 depletion results in unstable lamellipodia and impaired cell motility. DYRK3 causes increased Liprin-1 phosphorylation. Increasing levels of Liprin-1 rescue the inhibitory effects of DYRK3 on cell spreading, suggesting that an equilibrium between Liprin-1 and DYRK3 levels is required for lamellipodia stability and tumor cell motility. Our results show that DYRK3 is relevant to tumor cell motility, and identify a PMAP target of the kinase, highlighting a new mechanism regulating cell edge dynamics.
Upon request, the corresponding author is available to provide the data in different formats if it is not possible to open data files with open-source softwares
Clinical characteristics in iRBD (Grant RF-2018-12366746)
This dataset includes raw data analyzed and published in the following paper: Sarasso E, Gardoni A, Marelli S, Balestrino R, Zenere L, Castelnuovo A, Malcangi M, Basaia S, Grassi A, Tettamanti A, Canu E, Ferini-Strambi L, Filippi M, Agosta F. Gait Analysis and Magnetic Resonance Imaging Characteristics in Patients with Isolated Rapid Eye Movement Sleep Behavior Disorder. Mov Disord. 2024 Jul 4. doi: 10.1002/mds.29911. Epub ahead of print. PMID: 38962883
This publication was funded by the Italian Ministry of Health, Grant RF-2018-1236674
RF_2016_02361267
Dataset of vcf file of ADPKD patients, hg19 assembly, ONExpanded enrichment Illumina
ZIKV -Organoids
Preliminary data of ZIKV infection in brain organoids.
We perform immunostaining to characterise organoids grown in culture for 5 weeks. We identified neurons (MAP2) and astrocytes (GFAP). We tested the cytopathic effect of ZIKV in this 3D-system after infection with 1.000.000 infectious particles. We took pictures every 3 days post-infection by optic microscope and collected the supernatant for the retrotitration through plaque forming assay to check viral replication
Bradykinesia in Parkinson Disease (GR-2018-12366005)
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
Atypical phenotype in a patient with ceruloplasmin mutations in the compound heterozygous state
Images and dataset of densitometric analysis used for the generation of the figure 1 of the paper by Ravasi G, Pelucchi S, Canonico F, Mariani R, Piperno A. Atypical phenotype in a patient with ceruloplasmin mutations in the compound heterozygous state. Meta Gene. 2021, 29: 100905. doi.org/10.1016/j.mgene.2021.100905.
This paper is associated to the project "Blood-cerebrospinal fluid-barrie defect as gate for targeting by liver-directed ceruloplasmin gene replacement therapy in the rare disease aceruloplasminemia" supported by Italian Ministry of Health, with the grant RF-2018-1236671 to Massimo ALESSIO as principal investigator at the IRCCS-San Raffaele Hospital, Milano, Italy