Patrizia Noris
A5023374647- Platelet Disorders and Treatments
- Blood groups and transfusion
- Blood properties and coagulation
- Blood disorders and treatments
- Cell Adhesion Molecules Research
- Chronic Lymphocytic Leukemia Research
- Antiplatelet Therapy and Cardiovascular Diseases
- Venous Thromboembolism Diagnosis and Management
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Renal Diseases and Glomerulopathies
- Immunodeficiency and Autoimmune Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Heparin-Induced Thrombocytopenia and Thrombosis
- Hemoglobinopathies and Related Disorders
- Autoimmune Bullous Skin Diseases
- Caveolin-1 and cellular processes
- Hematopoietic Stem Cell Transplantation
- Inflammatory Biomarkers in Disease Prognosis
- Diabetes Treatment and Management
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Erythrocyte Function and Pathophysiology
- Blood transfusion and management
- Acute Myocardial Infarction Research
- Complement system in diseases
- COVID-19 Clinical Research Studies
University of Pavia
2014-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2022
Policlinico San Matteo Fondazione
2004-2022
Corvid Technologies (United States)
2021
Royal Free London NHS Foundation Trust
2019
University College London
2019
Telethon Institute Of Genetics And Medicine
2002-2003
Tampere University
2003
Laboratory of Molecular Genetics
2002
University of Ragusa
2002
May-Hegglin anomaly, Sebastian syndrome, Fechtner and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical laboratory signs, such as sensorineural hearing loss, cataract, nephritis, polymorphonuclear Döhle-like bodies. Mutations in the MYH9 gene encoding for nonmuscle myosin heavy chain IIA (NMMHC-IIA) have been identified all these syndromes. To understand role mutations, we report molecular defects 12 new cases, which together...
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but infancy or adult life, some them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consistent correlations have been identified between 27 different MYH9 so far and variable clinical evolution disease....
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD characterized considerable variability clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal (ESRD). We searched genotype-phenotype correlations largest series consecutive collected so far (255...
Point mutations in the 5′ UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients healthy subjects, demonstrated that THC2-associated ANKRD26 resulted loss runt-related transcription factor 1 (RUNX1) friend leukemia integration (FLI1) binding. RUNX1 FLI1 binding at subjects led silencing...
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical these hemorrhagic We performed worldwide, multicentric, retrospective study to assess complications surgery, preventive and therapeutic approaches adopted, their efficacy disorders: Surgery Platelet disorders And Therapeutic Approach (SPATA) study. rated outcome 829 procedures carried out 423 well-defined forms 238 function...
ETV6-related thrombocytopenia is an autosomal dominant that has been recently identified in a few families and suspected to predispose hematologic malignancies. To gain further information on this disorder, we searched for ETV6 mutations the 130 with inherited of unknown origin from our cohort 274 consecutive pedigrees familial thrombocytopenia. We 20 patients seven pedigrees. They have five different variants, including three novel affecting highly conserved E26 transformation-specific...
Human c‐mpl ligand or thrombopoietin (TPO) has been proved to be a critical cytokine in the physiological regulation of thrombopoiesis. Previous evidence suggested that TPO production is constitutive and plasma levels are regulated by platelet–megakaryocyte mass through receptor‐mediated uptake metabolism. To evaluate whether this mechanism level also operative subjects with an elevated platelet count, we evaluated serum 32 patients thrombocytosis due essential thrombocythaemia (ET)...
Background Bernard-Soulier syndrome is a severe bleeding disease due to defect of GPIb/IX/V, platelet complex that binds the von Willebrand factor. Due rarity disease, there are reports only on few cases compromising any attempt establish correlations between genotype and phenotype. In order identify associations, we describe largest case series ever reported, which was evaluated systematically at same center.Design Methods Thirteen patients with seven obligate carriers were enrolled. We...
Background Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and typically as recessive disease. However, some years ago it was shown the monoallelic c.515C>T transition GPIBA gene (Bolzano mutation) responsible for macrothrombocytopenia few Italian patients.Design Methods Over past 10 years, we have searched Bolzano mutation all subjects referred to our institutions because an autosomal, dominant unknown...