Rosanna Asselta
A5014252849- Blood properties and coagulation
- Blood Coagulation and Thrombosis Mechanisms
- Hemophilia Treatment and Research
- Parkinson's Disease Mechanisms and Treatments
- Erythrocyte Function and Pathophysiology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Liver Diseases and Immunity
- RNA Research and Splicing
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Platelet Disorders and Treatments
- Prostate Cancer Treatment and Research
- Hemostasis and retained surgical items
- Pediatric Hepatobiliary Diseases and Treatments
- Liver Disease Diagnosis and Treatment
- Genetic Associations and Epidemiology
- MicroRNA in disease regulation
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Lipoproteins and Cardiovascular Health
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Congenital heart defects research
- PARP inhibition in cancer therapy
IRCCS Humanitas Research Hospital
2020-2025
Humanitas University
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2000-2023
University of Siena
2023
Universität Hamburg
2021
University of Milan
2006-2020
Ospedale Maggiore
2000-2020
Biogipuzkoa Health Research Institute
2020
Mario Negri Institute for Pharmacological Research
2020
Fondazione IRCCS Istituto Neurologico Carlo Besta
2020
There is considerable variation in disease behavior among patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes 2019 (Covid-19). Genomewide association analysis may allow for identification of potential genetic factors involved development Covid-19.
In children with congenital hyperinsulinism (CHI), K(ATP) channel genes (ABCC8 and KCNJ11) can be screened rapidly for potential pathogenic mutations. We aimed to assess the contribution of rapid genetic testing clinical management CHI.Follow-up observational study at two CHI referral hospitals.Clinical outcomes such as subtotal pancreatectomy, (18)F-Dopa positron emission tomography-computed tomography (PET-CT) scanning, stability on medical treatment remission were assessed in a cohort 101...
Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces risk coronary heart disease is not known. Human mutations that inactivate a gene encoding drug target can mimic action an inhibitory and thus be used to infer potential effects drug.We sequenced exons NPC1L1 in 7364 patients with 14,728 controls without who were European, African, or South Asian ancestry. We...
As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for early identification high-risk individuals are an urgent medical need. Italy has one highest numbers SARS-CoV-2-related deaths and mortality rates. Worldwide, a more severe course COVID-19 is associated with older age, comorbidities, male sex. Hence, we searched possible genetic components severity among Italians by looking at expression levels variants in ACE2 TMPRSS2 genes, crucial viral...
The objective of this work was to investigate survival, dementia, and genotype-phenotype correlations in patients with Parkinson's disease (PD) without mutations on the glucocerebrosidase gene (GBA).We included 2,764 unrelated consecutive PD patients: 123 GBA carriers (67 mild-p.N370S 56 severe mainly p.L444P) 2,641 noncarriers. Brain perfusion dopamine transporter imaging analyzed, including dementia Lewy Bodies (DLB) as an additional control group.Multivariable analysis adjusted by sex,...
Abstract In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to novel (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes angiotensin...
Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD show pleiotropy; that is, they are also other diseases or traits. This study sought to systematically test if genetic variants for non-CAD diseases/traits associate and undertake a comprehensive analysis the extent pleiotropy all loci. In discovery analyses involving 42,335 cases 78,240 control subjects we tested 29,383 common (minor allele frequency >5%) single...
<h3>Importance</h3> The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from circulation. Mutations that damage LPL gene (<i>LPL</i>) lead to lifelong deficiency enzymatic and can provide insight into relationship human disease. <h3>Objective</h3> To determine whether rare and/or common variants in<i>LPL</i>are associated with early-onset coronary artery disease (CAD). <h3>Design, Setting, Participants</h3> In a cross-sectional...
Abstract Despite substantial progress, causal variants are identified only for a minority of familial Parkinson’s disease (PD) cases, leaving high-risk pathogenic unidentified 1,2 . To identify such variants, we uniformly processed exome sequencing data 2,184 index PD cases and 69,775 controls. Exome-wide analyses converged on RAB32 as novel gene identifying c.213C > G/p.S71R variant presenting in ~0.7% while observed 0.004% controls (odds ratio 65.5). This was confirmed all via Sanger...
Significance At atomic and molecular levels, particles interact via the immutable laws of quantum mechanics, whereas at nanoscopic microscopic interactions between colloidal can be determined by human design. We exploit DNA self-assembly to produce with a controlled number interacting terminations, providing valence. Experimental investigation collective behavior such colloids shows that reducing sites results in significant shrinkage gas–liquid coexistence region, critical parameters...
Penetrance estimates of the leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation for PD vary widely (24%-100%). The penetrance in individuals Ashkenazi Jewish ancestry has been estimated as 25%, adjusted multiple covariates. It is unknown whether varies among different ethnic groups. objective this study was to estimate non-Ashkenazi and compare between Jews age 80.The kin-cohort method used 474 first-degree relatives 69 LRRK2 carrier probands at 8 sites from Michael J. Fox Cohort...
Abnormalities in alternative splicing (AS) are emerging as recurrent features autoimmune diseases (AIDs). In particular, a growing body of evidence suggests the existence pathogenic association between generalized defect regulatory genes and multiple sclerosis (MS). Moreover, several studies have documented an unbalance alternatively-spliced isoforms MS patients possibly contributing to disease etiology. this work, using combination PCR-based techniques (reverse-transcription (RT)-PCR,...
The objectives of our study were to assess the association radiomic and genomic data with histology patient outcome in non-small cell lung cancer (NSCLC).In this retrospective single-centre observational study, we selected 151 surgically treated patients adenocarcinoma or squamous carcinoma who performed baseline [18F] FDG PET/CT. A subgroup tissue samples at Institutional Biobank (n = 74/151) was included analysis. Features extracted from both PET CT images using an in-house tool. analysis...
Background. There is considerable variability in COVID-19 outcomes among younger adults, and some of this variation may be due to genetic predisposition.
Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, genetic features were investigated retrospective data from the PRO-RBDD. Patients classified asymptomatic grade 3 based on their severity. In addition, FGG sequenced find causative variants. A total of 166 cases 16 countries...