{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:43:47Z","timestamp":1791164627204,"version":"4.1.0"},"reference-count":30,"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\/79063","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T04:34:58Z","timestamp":1027658098000},"page":"103-105","source":"Crossref","is-referenced-by-count":373,"title":["Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes"],"prefix":"10.1038","volume":"26","author":[{"given":"The May-Hegglin\/Fechtner","family":"Syndrome Consortium","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0900_103_CR1","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1309\/FC4H-LM5V-VCW8-DNJU","volume":"113","author":"P Mhawech","year":"2000","unstructured":"Mhawech, P. & Saleem, A. Inherited giant platelet disorders. Classification and literature review. Am. J. Clin. Pathol. 113, 176\u2013190 (2000).","journal-title":"Am. J. Clin. Pathol."},{"key":"BFng0900_103_CR2","first-page":"439","volume":"12","author":"R Hegglin","year":"1945","unstructured":"Hegglin, R. Gleichzeitige konstitutionelle Veranderungen an Neurtophilen und Thrombocyten . Helv. Med. Acta 12, 439\u2013 440 (1945).","journal-title":"Helv. Med. Acta"},{"key":"BFng0900_103_CR3","first-page":"1","volume":"96","author":"R May","year":"1909","unstructured":"May, R. Leukocyteneinschlusse . Dtsch. Arch. Klin. Med. 96, 1\u2013 6 (1909).","journal-title":"Dtsch. Arch. Klin. Med."},{"key":"BFng0900_103_CR4","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1182\/blood.V65.2.397.397","volume":"65","author":"LC Peterson","year":"1985","unstructured":"Peterson, L.C., Rao, K.V., Crosson, J.T. & White, J.G. Fechtner syndrome?a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia . Blood 65, 397\u2013406 (1985).","journal-title":"Blood"},{"key":"BFng0900_103_CR5","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1007\/BF01732878","volume":"61","author":"A Greinacher","year":"1990","unstructured":"Greinacher, A., Nieuwenhuis, H.K. & White, J.G. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 61, 282\u2013288 (1990).","journal-title":"Blut"},{"key":"BFng0900_103_CR6","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 May-Hegglin anomaly (MHA) gene localizes to a &lt;1Mb region on chromosome 22q12.3?13.1. Am. J. Hum. Genet. 66, 1449\u20131454 (2000).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0900_103_CR7","doi-asserted-by":"crossref","unstructured":"Cusano, R.,. et al. Localisation of the gene responsible for Fechtner syndrome in a region &lt;600 kb on 22q11-q13. Eur. J. Hum. Genet. (in press).","DOI":"10.1038\/sj.ejhg.5200533"},{"key":"BFng0900_103_CR8","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1073\/pnas.87.3.1164","volume":"87","author":"CG Saez","year":"1990","unstructured":"Saez, C.G., Myers, J.C., Shows, T.B. & Leinwand, L.A. Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylation . Proc. Natl Acad. Sci. USA 87, 1164\u2013 1168 (1990).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng0900_103_CR9","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1161\/01.RES.69.2.530","volume":"69","author":"M Simons","year":"1991","unstructured":"Simons, M. et al. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Circ. Res. 69, 530\u2013539 (1991).","journal-title":"Circ. Res."},{"key":"BFng0900_103_CR10","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1182\/blood.V78.7.1826.1826","volume":"78","author":"LE Toothaker","year":"1991","unstructured":"Toothaker, L.E. et al. Cellular myosin heavy chain in human leukocytes: isolation of 5\u2032 cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation. Blood 78, 1826\u20131833 (1991).","journal-title":"Blood"},{"key":"BFng0900_103_CR11","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\u2013 383 (1999).","journal-title":"Hum. Genet."},{"key":"BFng0900_103_CR12","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1086\/302654","volume":"65","author":"A Toren","year":"1999","unstructured":"Toren, A. et al. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11?13 . Am. J. Hum. Genet. 65, 1711\u2013 1717 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0900_103_CR13","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_103_CR14","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1083\/jcb.112.5.915","volume":"112","author":"S Kawamoto","year":"1991","unstructured":"Kawamoto, S. & Adelstein, R.S. Chicken nonmuscle myosin heavy chains: differential expression of two mRNAs and evidence for two different polypeptides. J. Cell Biol. 112, 915\u2013 924 (1991).","journal-title":"J. Cell Biol."},{"key":"BFng0900_103_CR15","first-page":"465","volume-title":"Protides of Biological Fluids","author":"RC Lucas","year":"1975","unstructured":"Lucas, R.C. et al. The isolation and characterization of a cytoskeleton and a contractile apparatus from platelets. in Protides of Biological Fluids (ed. Peeters, H.) 465\u2013470 (Pergamon, New York, 1975)."},{"key":"BFng0900_103_CR16","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\u2013 360 (1998).","journal-title":"Am. J. Med."},{"key":"BFng0900_103_CR17","first-page":"165","volume":"5","author":"N Bizzaro","year":"1997","unstructured":"Bizzaro, N. L'anomalia di May-Hegglin: una rara causa di piastrinopenia congenita. Descrizione della malattia e di un vasto gruppo familiare del Veneto orientale. Med. Lab. 5, 165\u2013171 ( 1997).","journal-title":"Med. Lab."},{"key":"BFng0900_103_CR18","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1016\/S0002-9378(98)70283-2","volume":"179","author":"AC Urato","year":"1998","unstructured":"Urato, A.C. & Repke, J.T. May-Hegglin anomaly: a case of vaginal delivery when both mother and fetus are affected. Am. J. Obstet. Gynecol. 179, 260\u2013261 ( 1998).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"BFng0900_103_CR19","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1007\/s004670050700","volume":"13","author":"MM Moxey-Mims","year":"1999","unstructured":"Moxey-Mims, M.M. et al. End-stage renal disease in two pediatric patients with Fechtner syndrome. Pediatr. Nephrol. 13, 782\u2013 786 (1999).","journal-title":"Pediatr. Nephrol."},{"key":"BFng0900_103_CR20","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/S0167-4889(00)00005-7","volume":"1496","author":"JR Sellers","year":"2000","unstructured":"Sellers, J.R. Myosins: a diverse superfamily. Biochim. Biophys. Acta 1496, 3\u201322 (2000).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFng0900_103_CR21","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1146\/annurev.bi.53.070184.000343","volume":"53","author":"WF Harrington","year":"1984","unstructured":"Harrington, W.F. & Rodgers, M.E. Myosin. Annu. Rev. Biochem. 53, 35\u201373 (1984).","journal-title":"Annu. Rev. Biochem."},{"key":"BFng0900_103_CR22","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1016\/S0092-8674(00)81598-6","volume":"94","author":"R Dominguez","year":"1998","unstructured":"Dominguez, R., Freyzon, Y., Trybus, K.M. & Cohen, C. Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state. Cell 94, 559\u2013571 (1998).","journal-title":"Cell"},{"key":"BFng0900_103_CR23","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_103_CR24","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1007\/BF01773874","volume":"9","author":"S Citi","year":"1988","unstructured":"Citi, S. & Kendrick-Jones, J. Brush border myosin filament assembly and interaction with actin investigated with monoclonal antibodies . J. Muscle Res. Cell Motil. 9, 306\u2013 319 (1988).","journal-title":"J. Muscle Res. Cell Motil."},{"key":"BFng0900_103_CR25","doi-asserted-by":"publisher","first-page":"1989","DOI":"10.1021\/bi971959a","volume":"37","author":"N Murakami","year":"1998","unstructured":"Murakami, N., Chauhan, V.P. & Elzinga, M. Two nonmuscle myosin II heavy chain isoforms expressed in rabbit brains: filament forming properties, the effects of phosphorylation by protein kinase C and casein kinase II, and location of the phosphorylation sites. Biochemistry 37, 1989\u2013 2003 (1998).","journal-title":"Biochemistry"},{"key":"BFng0900_103_CR26","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1107\/S0365110X53001952","volume":"6","author":"FHC Crick","year":"1953","unstructured":"Crick, F.H.C. The packing of \u03b1 helices: simple coiled coils. Acta Crystallogr. 6, 685\u2013689 ( 1953).","journal-title":"Acta Crystallogr."},{"key":"BFng0900_103_CR27","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_103_CR28","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1086\/302216","volume":"64","author":"AK Lalwani","year":"1999","unstructured":"Lalwani, A.K. et al. A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration . Am. J. Hum. Genet. 64, 318\u2013 323 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0900_103_CR29","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/0002-9343(72)90017-4","volume":"52","author":"CJ Epstein","year":"1972","unstructured":"Epstein, C.J. et al. Hereditary macrothromboctopathia, nephritis and deafness. Am. J. Med. 52, 299\u2013310 (1972).","journal-title":"Am. J. Med."},{"key":"BFng0900_103_CR30","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1038\/79069","volume":"26","author":"MJ Kelley","year":"2000","unstructured":"Kelley, M.J., Jawien, W., Ortel, T.L. & Korczak, J.F. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nature Genet. 26, 106\u2013108 (2000).","journal-title":"Nature Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0900_103","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0900_103.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0900_103.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_103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,9]]}},"alternative-id":["BFng0900_103"],"URL":"https:\/\/doi.org\/10.1038\/79063","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,9]]}}}