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Increased circulating hematopoietic and endothelial progenitor cells in the early phase of acute myocardial infarction.
Spontaneous mobilization of both HPCs and EPCs occurs within a few hours from the onset of AMI and is detectable until 2 months, while the number of endothelial colonies was higher in patients with AMI (T0) than in CTRLs (P < .05). Expand
MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations
Findings in genotype–phenotype correlations are essential to patients' clinical management and genetic counseling and are discussed in view of molecular pathogenesis of MYH9‐RD. Expand
MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
The term “MHY9-related disease,” which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects, is proposed. Expand
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in… Expand
Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias
Results of a small clinical study suggested that a non‐peptide thrombopoietin mimetic might greatly benefit bothThrombocytopenia and bleeding tendency of MYH9‐RD patients. Expand
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
- T. Pippucci, A. Savoia, +20 authors C. Balduini
- Biology, Medicine
- American journal of human genetics
- 7 January 2011
It is shown that ANKRD26, another gene within the THC2 locus, and neither MASTL nor ACBD5, is mutated in eight unrelated families, and six different AN KRD26 mutations are identified, which were clustered in a highly conserved 19 bp sequence located in the 5' untranslated region. Expand
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia. We identified a family with autosomal dominant… Expand
Diagnostic and clinical relevance of the number of circulating CD34(+) cells in myelofibrosis with myeloid metaplasia.
The absolute number of CD34(+) circulating cells allows MMM to be distinguished from other Ph(-) CMDs; it is strongly associated with the extent of myeloproliferation and predicts evolution toward blast transformation. Expand
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease
Evaluating the clinical course of patients with mutations in the four most frequently affected residues of NMMHC‐IIA concluded that mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age. Expand
Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes
- A. Balduini, I. Pallotta, +5 authors M. Torti
- Chemistry, Medicine
- Journal of thrombosis and haemostasis : JTH
- 1 November 2008
The findings show that proplatelet formation in human megakaryocytes undergoes a complex spatio‐temporal regulation orchestrated by adhesive proteins, GPIb‐IX‐V and myosin IIA. Expand