The gene implicated in the May-Hegglin anomaly and related macrothrombocytopenias, MYH9, encodes myosin-IIA, a protein that enables morphogenesis in diverse cell types. Defective myosin-IIA complexes are presumed to perturb megakaryocyte (MK) differentiation or generation of proplatelets. We observed that Myh9(-/-) mouse embryonic stem (ES) cells differentiate into MKs that are fully capable of...

BACKGROUND AND OBJECTIVES May-Hegglin anomaly (MHA) and Sebastian syndrome (SBS) are inherited macrothrombocytopenias with D hle-like bodies in leukocytes. MHA-SBS are due to mutations of the gene (MYH9) for the heavy chain of non-muscle myosin IIA (NMMHC-IIA), the only myosin II expressed in platelets. The bleeding tendency is often more severe than expected on the basis of platelet count, but...

1. Division of Medical Genetics, Faculty of Medicine, University of Geneva. CH-1211 Geneva, Switzerland. 2. Division of Hematology, Geneva University Hospital,CH-1206 Geneva, Switzerland. 3. Department of Pathology, Faculty of Medicine, University of Geneva. CH1211 Geneva, Switzerland. 4.Biozentrum der Universität Basel and Swiss Institute of Bioinformatics, CH-4056 Basel, Switzerland. 5. Gradu...

Macrothrombocytopenia with leukocyte inclusions is a rare autosomal dominant platelet disorder characterized by a triad of giant platelets, thrombocytopenia, and characteristic Döhle body-like leukocyte inclusions. A previous study mapped a locus for the disease on chromosome 22q12.3-q13.2 by genome-wide linkage analysis. In addition, the complete DNA sequence of human chromosome 22 allowed a p...

We present measurements of NO, NOy, O3, and N2O within the lowermost stratosphere (LMS) over Europe obtained during the SPURT project. The measurements cover all seasons between November 2001 and July 2003. They span a broad band of latitudes from 30 N to 75 N and a potential temperature range from 290 to 380 K. The measurements represent a comprehensive data set of these tracers and reveal atm...

Beta-adrenergic blockers are increasingly used in the treatment of angina pectoris (Hamer et al., 1964, 1966; Srivastava, Dewar, and Newell, 1964; Gillam and Prichard, 1965, 1966; Keelan, 1965; Rabkin et al., 1966; Wolfson et al., 1966), cardiac arrhythmias (Stock and Dale, 1963; Fiene, Griffin, and Harrison, 1965; Ginn, Irons, and Orgain, 1965; Harrison, Griffin, and Fiene, 1965; Bath, 1966; H...

BACKGROUND AND OBJECTIVE Desmopressin (DDAVP) may shorten bleeding time in patients with disorders of platelet function, but its mechanism of action in these conditions is still a matter of debate. In particular, contrasting results have been obtained concerning the ability of DDAVP to interact with platelets and to activate them directly. To gain further information on the DDAVP-platelet inter...

Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an ...