Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly (original) (raw)

• May, R. Leukozyteneinschlüsse. Dtsch. Arch. Klin. Med. 96, 1–6 (1909).
  Google Scholar
• Hegglin, R. Gleichzeitige konstitutionelle Veränderungen an Neutrophilen und Thrombozyten. Helv. Med. Acta 12, 439–440 (1945).
  CAS PubMed Google Scholar
• Noris, P., Spedini, P., Belletti, S., Magrini, U. & Balduini, C.L. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings. Am. J. Med. 104, 355–360 (1998).
  Article CAS Google Scholar
• Coller, B.S. & Zarrabi, M.H. Platelet membrane studies in the May-Hegglin anomaly. Blood 58, 279–284 (1981).
  CAS PubMed Google Scholar
• Ricci, G., Manservigi, R., Albonici, L., Zavagli, G. & Cassai, E. Evidence for glycoprotein abnormality in platelets from patients with May-Hegglin anomaly. Thromb. Haemost. 54, 862–865 (1985).
  Article CAS Google Scholar
• Lusher, J.M., Schneider, J., Mizukami, I. & Evans, R.K. The May-Hegglin anomaly: platelet function, ultrastructure and chromosome studies. Blood 32, 950–961 (1968).
  CAS PubMed Google Scholar
• Hamilton, R.W. et al. Platelet function, ultrastructure, and survival in the May-Hegglin anomaly. Am. J. Clin. Pathol. 74, 663–668 (1980).
  Article CAS Google Scholar
• Godwin, H.A. & Ginsburg, A.D. May-Hegglin anomaly: a defect in megakaryocyte fragmentation? Br. J. Haematol. 26, 117–128 (1974).
  Article CAS Google Scholar
• Kelley, M.J. et al. Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12–13. Hum. Genet. 106, 557–564 (2000).
  Article CAS Google Scholar
• Kunishima, S. et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Hum. Genet. 105, 379–383 (1999).
  Article CAS Google Scholar
• Martignetti, J.A. et al. The gene for May-Hegglin anomaly localizes to a 1-Mb region on chromosome 22q12.3–13.1. Am. J. Hum. Genet. 66, 1449–1454 (2000).
  Article CAS Google Scholar
• McLachlan, A.D. & Karn, J. Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle. Nature 299, 226–231 (1982).
  Article CAS Google Scholar
• Moores, S.L. & Spudich, J.A. Conditional loss-of-myosin-II-function mutants reveal a position in the tail that is critical for filament nucleation. Mol. Cell 1, 1043–1050 (1998).
  Article CAS Google Scholar
• Hodge, T.P., Cross, R. & Kendrick-Jones, J. Role of the COOH-terminal nonhelical tailpiece in the assembly of a vertebrate nonmuscle myosin rod. J. Cell Biol. 118, 1085–1095 (1992).
  Article CAS Google Scholar
• Cripps, R.M., Suggs, J.A. & Bernstein, S.I. Assembly of thick filaments and myofibrils occurs in the absence of the myosin head. EMBO J. 18, 1793–1804 (1999).
  Article CAS Google Scholar
• Weiss, A., Schiaffino, S. & Leinwand, L.A. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. J. Mol. Biol. 290, 61–75 (1999).
  Article CAS Google Scholar
• Conrad, A.H., Jaffredo, T. & Conrad, G.W. Differential localization of cytoplasmic myosin II isoforms A and B in avian interphase and dividing embryonic and immortalized cardiomyocytes and other cell types in vitro. Cell Motil. Cytoskeleton 31, 93–112 (1995).
  Article CAS Google Scholar
• Maupin, P., Phillips, C.L., Adelstein, R.S. & Pollard, T.D. Differential localization of myosin-II isozymes in human cultured cells and blood cells. J. Cell. Sci. 107, 3077–3090 (1994).
  CAS PubMed Google Scholar
• Kolega, J. Cytoplasmic dynamics of myosin IIA and IIB: spatial ‘sorting’ of isoforms in locomoting cells. J. Cell Sci. 111, 2085–2095 (1998).
  CAS PubMed Google Scholar
• Kelley, C.A. et al. Xenopus nonmuscle myosin heavy chain isoforms have different subcellular localizations and enzymatic activities. J. Cell Biol. 134, 675–687 (1996).
  Article CAS Google Scholar
• De Lozanne, A. & Spudich, J.A. Disruption of the Dictyostelium myosin heavy chain gene by homologous recombination. Science 236, 1086–1091 (1987).
  Article CAS Google Scholar
• Knecht, D.A. & Loomis, W.F. Antisense RNA inactivation of myosin heavy chain gene expression in Dictyostelium discoideum. Science 236, 1081–1086 (1987).
  Article CAS Google Scholar
• Redowicz, M.J. Myosins and deafness. J. Muscle Res. Cell Motil. 20, 241–248 (1999).
  Article CAS Google Scholar
• Willems, P.J. Genetic causes of hearing loss. N. Engl. J. Med. 342, 1101–1109 (2000).
  Article CAS Google Scholar
• Dunham, I. et al. The DNA sequence of human chromosome 22. Nature 402, 489–495 (1999).
  Article CAS Google Scholar
• Ciulla, T.A., Sklar, R.M. & Hauser, S.L. A simple method for DNA purification from peripheral blood. Anal. Biochem. 174, 485–488 (1988).
  Article CAS Google Scholar
• The May-Hegglin/Fechtner Syndrome Consortium Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genet. 26, 105–107 (2000).