{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:54:23Z","timestamp":1791071663651,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2000,9,1]],"date-time":"2000-09-01T00:00:00Z","timestamp":967766400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2000,9]]},"DOI":"10.1038\/79069","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T04:34:58Z","timestamp":1027658098000},"page":"106-108","source":"Crossref","is-referenced-by-count":222,"title":["Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly"],"prefix":"10.1038","volume":"26","author":[{"given":"Michael J.","family":"Kelley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Jawien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Ortel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeannette F.","family":"Korczak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0900_106_CR1","first-page":"1","volume":"96","author":"R May","year":"1909","unstructured":"May, R. Leukozyteneinschl\u00fcsse. Dtsch. Arch. Klin. Med. 96, 1\u20136 (1909).","journal-title":"Dtsch. Arch. Klin. Med."},{"key":"BFng0900_106_CR2","first-page":"439","volume":"12","author":"R Hegglin","year":"1945","unstructured":"Hegglin, R. Gleichzeitige konstitutionelle Ver\u00e4nderungen an Neutrophilen und Thrombozyten. Helv. Med. Acta 12, 439\u2013440 (1945).","journal-title":"Helv. Med. Acta"},{"key":"BFng0900_106_CR3","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/S0002-9343(98)00062-X","volume":"104","author":"P Noris","year":"1998","unstructured":"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\u2013360 (1998).","journal-title":"Am. J. Med."},{"key":"BFng0900_106_CR4","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1182\/blood.V58.2.279.279","volume":"58","author":"BS Coller","year":"1981","unstructured":"Coller, B.S. & Zarrabi, M.H. Platelet membrane studies in the May-Hegglin anomaly. Blood 58, 279\u2013284 (1981).","journal-title":"Blood"},{"key":"BFng0900_106_CR5","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1055\/s-0038-1660149","volume":"54","author":"G Ricci","year":"1985","unstructured":"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\u2013865 (1985).","journal-title":"Thromb. Haemost."},{"key":"BFng0900_106_CR6","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1182\/blood.V32.6.950.950","volume":"32","author":"JM Lusher","year":"1968","unstructured":"Lusher, J.M., Schneider, J., Mizukami, I. & Evans, R.K. The May-Hegglin anomaly: platelet function, ultrastructure and chromosome studies. Blood 32, 950\u2013961 (1968).","journal-title":"Blood"},{"key":"BFng0900_106_CR7","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1093\/ajcp\/74.5.663","volume":"74","author":"RW Hamilton","year":"1980","unstructured":"Hamilton, R.W. et al. Platelet function, ultrastructure, and survival in the May-Hegglin anomaly. Am. J. Clin. Pathol. 74, 663\u2013668 (1980).","journal-title":"Am. J. Clin. Pathol."},{"key":"BFng0900_106_CR8","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1111\/j.1365-2141.1974.tb00455.x","volume":"26","author":"HA Godwin","year":"1974","unstructured":"Godwin, H.A. & Ginsburg, A.D. May-Hegglin anomaly: a defect in megakaryocyte fragmentation? Br. J. Haematol. 26, 117\u2013128 (1974).","journal-title":"Br. J. Haematol."},{"key":"BFng0900_106_CR9","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1007\/s004390000294","volume":"106","author":"MJ Kelley","year":"2000","unstructured":"Kelley, M.J. et al. Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12\u201313. Hum. Genet. 106, 557\u2013564 (2000).","journal-title":"Hum. Genet."},{"key":"BFng0900_106_CR10","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1007\/s004390051119","volume":"105","author":"S Kunishima","year":"1999","unstructured":"Kunishima, S. et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Hum. Genet. 105, 379\u2013383 (1999).","journal-title":"Hum. Genet."},{"key":"BFng0900_106_CR11","doi-asserted-by":"publisher","first-page":"1449","DOI":"10.1086\/302873","volume":"66","author":"JA Martignetti","year":"2000","unstructured":"Martignetti, J.A. et al. The gene for May-Hegglin anomaly localizes to a 1-Mb region on chromosome 22q12.3\u201313.1. Am. J. Hum. Genet. 66, 1449\u20131454 (2000).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0900_106_CR12","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1038\/299226a0","volume":"299","author":"AD McLachlan","year":"1982","unstructured":"McLachlan, A.D. & Karn, J. Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle. Nature 299, 226\u2013231 (1982).","journal-title":"Nature"},{"key":"BFng0900_106_CR13","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1016\/S1097-2765(00)80104-5","volume":"1","author":"SL Moores","year":"1998","unstructured":"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\u20131050 (1998).","journal-title":"Mol. Cell"},{"key":"BFng0900_106_CR14","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1083\/jcb.118.5.1085","volume":"118","author":"TP Hodge","year":"1992","unstructured":"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\u20131095 (1992).","journal-title":"J. Cell Biol."},{"key":"BFng0900_106_CR15","doi-asserted-by":"publisher","first-page":"1793","DOI":"10.1093\/emboj\/18.7.1793","volume":"18","author":"RM Cripps","year":"1999","unstructured":"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\u20131804 (1999).","journal-title":"EMBO J."},{"key":"BFng0900_106_CR16","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1006\/jmbi.1999.2865","volume":"290","author":"A Weiss","year":"1999","unstructured":"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\u201375 (1999).","journal-title":"J. Mol. Biol."},{"key":"BFng0900_106_CR17","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/cm.970310203","volume":"31","author":"AH Conrad","year":"1995","unstructured":"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\u2013112 (1995).","journal-title":"Cell Motil. Cytoskeleton"},{"key":"BFng0900_106_CR18","doi-asserted-by":"crossref","first-page":"3077","DOI":"10.1242\/jcs.107.11.3077","volume":"107","author":"P Maupin","year":"1994","unstructured":"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\u20133090 (1994).","journal-title":"J. Cell. Sci."},{"key":"BFng0900_106_CR19","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1242\/jcs.111.15.2085","volume":"111","author":"J Kolega","year":"1998","unstructured":"Kolega, J. Cytoplasmic dynamics of myosin IIA and IIB: spatial \u2018sorting\u2019 of isoforms in locomoting cells. J. Cell Sci. 111, 2085\u20132095 (1998).","journal-title":"J. Cell Sci."},{"key":"BFng0900_106_CR20","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1083\/jcb.134.3.675","volume":"134","author":"CA Kelley","year":"1996","unstructured":"Kelley, C.A. et al. Xenopus nonmuscle myosin heavy chain isoforms have different subcellular localizations and enzymatic activities. J. Cell Biol. 134, 675\u2013687 (1996).","journal-title":"J. Cell Biol."},{"key":"BFng0900_106_CR21","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1126\/science.3576222","volume":"236","author":"A De Lozanne","year":"1987","unstructured":"De Lozanne, A. & Spudich, J.A. Disruption of the Dictyostelium myosin heavy chain gene by homologous recombination. Science 236, 1086\u20131091 (1987).","journal-title":"Science"},{"key":"BFng0900_106_CR22","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1126\/science.3576221","volume":"236","author":"DA Knecht","year":"1987","unstructured":"Knecht, D.A. & Loomis, W.F. Antisense RNA inactivation of myosin heavy chain gene expression in Dictyostelium discoideum. Science 236, 1081\u20131086 (1987).","journal-title":"Science"},{"key":"BFng0900_106_CR23","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1023\/A:1005403725521","volume":"20","author":"MJ Redowicz","year":"1999","unstructured":"Redowicz, M.J. Myosins and deafness. J. Muscle Res. Cell Motil. 20, 241\u2013248 (1999).","journal-title":"J. Muscle Res. Cell Motil."},{"key":"BFng0900_106_CR24","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1056\/NEJM200004133421506","volume":"342","author":"PJ Willems","year":"2000","unstructured":"Willems, P.J. Genetic causes of hearing loss. N. Engl. J. Med. 342, 1101\u20131109 (2000).","journal-title":"N. Engl. J. Med."},{"key":"BFng0900_106_CR25","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1038\/990031","volume":"402","author":"I Dunham","year":"1999","unstructured":"Dunham, I. et al. The DNA sequence of human chromosome 22. Nature 402, 489\u2013495 (1999).","journal-title":"Nature"},{"key":"BFng0900_106_CR26","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/0003-2697(88)90047-4","volume":"174","author":"TA Ciulla","year":"1988","unstructured":"Ciulla, T.A., Sklar, R.M. & Hauser, S.L. A simple method for DNA purification from peripheral blood. Anal. Biochem. 174, 485\u2013488 (1988).","journal-title":"Anal. Biochem."},{"key":"BFng0900_106_CR27","doi-asserted-by":"crossref","unstructured":"The May-Hegglin\/Fechtner Syndrome Consortium Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genet. 26, 105\u2013107 (2000).","DOI":"10.1038\/79063"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0900_106","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0900_106.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0900_106.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:54:45Z","timestamp":1684428885000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0900_106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,9]]}},"alternative-id":["BFng0900_106"],"URL":"https:\/\/doi.org\/10.1038\/79069","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,9]]}}}