A5066721156- Platelet Disorders and Treatments
- Blood groups and transfusion
- Cell Adhesion Molecules Research
- Immunodeficiency and Autoimmune Disorders
- Blood properties and coagulation
- Chronic Lymphocytic Leukemia Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Inflammatory Bowel Disease
- Blood disorders and treatments
- Renal Diseases and Glomerulopathies
- Autoimmune Bullous Skin Diseases
- Galectins and Cancer Biology
- Diabetes and associated disorders
- Microscopic Colitis
- Endometriosis Research and Treatment
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Heparin-Induced Thrombocytopenia and Thrombosis
- Advanced Glycation End Products research
- Erythrocyte Function and Pathophysiology
- S100 Proteins and Annexins
- Cardiomyopathy and Myosin Studies
- Sarcoidosis and Beryllium Toxicity Research
- Advanced Biosensing Techniques and Applications
- Proteoglycans and glycosaminoglycans research
University of Pavia
2014-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2024
Policlinico San Matteo Fondazione
2006-2024
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...
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...
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...
Summary MYH9-related disease (MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD caused by mutations MYH9, the gene encoding for non-muscle heavy-chain myosin-9. Wild-type mutant myosin-9 aggregate as cytoplasmic inclusions in patients’ leukocytes, identification which immunofluorescence has been proposed a suitable tool diagnosis MYH9-RD. Since...
Thrombocytopenia 4 (THC4) is an autosomal-dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein essential for electron transport mitochondria and cell apoptosis. THC4 considered extremely rare condition since only few patients have been reported so far. These subjects presented mild no or bleeding tendency. In this study, we describe six Italian families with five different heterozygous missense CYCS variants: p.Gly42Ser...
MYH9-related disease (MYH9-RD) is an autosomal-dominant thrombocytopenia caused by mutations of MYH9, the gene for heavy chain myosin-IIA. Pathogenesis MYH9-RD unknown. Recent studies in mice demonstrated that myosin-IIA inhibitor proplatelet formation (PPF), and suggested it could be involved suppression PPF exerted megakaryocyte adhesion to type I collagen, which regulates timing platelet release within bone marrow. However, consequences on heterozygous causative have never been...
Research Article30 November 2017Open Access Source DataTransparent process Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim Alessandro Pecci Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University Pavia, Italy Search for more papers by this author Iman Ragab Hematology-Oncology Unit, Pediatric Hospital, Ain Shams University, Cairo, Egypt Valeria Bozzi Daniela De Rocco Institute Maternal Child Health – Burlo...
Background MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During collection large case-series patients MYH9-RD we noticed several cases unexplained elevation liver enzymes. Our aim was to evaluate if alteration tests feature define its clinical significance. Methods Findings Data concerning tests,...
Crohn's disease (CD) is a disabling chronic enteropathy sustained by harmful T-cell response toward antigens of the gut microbiota in genetically susceptible subjects. Growing evidence highlights safety and possible efficacy mesenchymal stem cells (MSCs) as new therapeutic tool for this condition. Therefore, we aimed to investigate effects bone marrow-derived MSCs on pathogenic T with view clinical application.T-cell lines from both inflamed non-inflamed colonic mucosal specimens CD patients...
La malattia MYH9-correlata è una rara sindrome genetica caratterizzata da piastrinopenia congenita associata al rischio di sviluppare, durante linfanzia o letà adulta, ipoacusia neurosensoriale, nefropatia e cataratta presenile ad andamento evolutivo. Furono inclusi in uno studio retrospettivo tutti i casi con sordità severa a profonda arruolati consecutivamente nel Registro Italiano dei pazienti affetti MYH9-correlata. popolazione esaminata coinvolse 147 Italiani MYH9-correlata:...
Endoplasmic reticulum stress is an emerging significant player in the molecular pathology of connective tissue disorders. In response to endoplasmic stress, cells can upregulate macroautophagy/autophagy, a fundamental cellular homeostatic process used by degrade and recycle proteins or remove damaged organelles. these scenarios, autophagy activation support cell survival. Here we demonstrated vitro vivo approaches that megakaryocytes derived from col6a1−⁄− (collagen, type VI, alpha 1) null...
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding heavy chain of non-muscle myosin IIA. All patients present congenital macrothrombocytopenia and inclusion bodies neutrophils. Some them can also develop sensorineural deafness, presenile cataract, and/or progressive nephropathy leading to end-stage renal failure. We report four families, each with novel mutation: two missense mutations, exons 31 32, out frame deletions exon 40....
MYH9-related disease (MYH9-RD) is an autosomal-dominant thrombocytopenia caused by mutations in the gene for heavy chain of non-muscle myosin-IIA (NMMHC-IIA). Recent vitro studies led to hypothesis that MYH9-RD derives from ectopic platelet release megakaryocytes osteoblastic areas bone marrow (BM), which are enriched type I collagen, rather than vascular spaces. SDF-1-driven migration within BM reach spaces a key mechanism biogenesis. Since implicated polarised different cell types, we...
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