A5070229435- Platelet Disorders and Treatments
- Blood groups and transfusion
- DNA Repair Mechanisms
- Cell Adhesion Molecules Research
- Blood properties and coagulation
- Blood disorders and treatments
- Immunodeficiency and Autoimmune Disorders
- Chronic Lymphocytic Leukemia Research
- Renal Diseases and Glomerulopathies
- Cystic Fibrosis Research Advances
- Erythrocyte Function and Pathophysiology
- Porphyrin Metabolism and Disorders
- Chromosomal and Genetic Variations
- Microtubule and mitosis dynamics
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Genomic variations and chromosomal abnormalities
- Hemoglobinopathies and Related Disorders
- Caveolin-1 and cellular processes
- Autoimmune Bullous Skin Diseases
- CRISPR and Genetic Engineering
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Protist diversity and phylogeny
University of Verona
1989-2025
IRCCS Materno Infantile Burlo Garofolo
2013-2022
University of Trieste
2013-2022
GTx (United States)
2016
University of Bologna
2002-2014
Policlinico S.Orsola-Malpighi
2014
Medica (Italy)
2014
Azienda Ospedaliera Universitaria Pisana
2014
Istituti di Ricovero e Cura a Carattere Scientifico
1994-2012
University of Pavia
1990-2012
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...
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...
Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. The characterised by numerous carcinomas (BCCs), odontogenic keratocysts of the jaws, palmar and/or plantar pits, skeletal abnormalities intracranial calcifications.In this paper, clinical features 37 Italian patients are reviewed. Jaw cysts calcification falx cerebri were most frequently observed anomalies, followed BCCs...
The cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel is regulated by phosphorylation and dephosphorylation at multiple sites. Although activation protein kinases has been studied in some detail, the step received little attention. This report examines mechanisms responsible for spontaneous deactivation ("rundown") of CFTR channels excised from transfected Chinese hamster ovary (CHO) human airway epithelial cells. We that alkaline phosphatase inhibitors...
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...