{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:19:11Z","timestamp":1776039551713,"version":"3.50.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pathogenetics"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Heterozygous mutations of <jats:italic>MYH9<\/jats:italic>, encoding the Non-Muscular Myosin Heavy Chain-IIA (NMMHC-IIA), cause a complex disorder named <jats:italic>MYH9<\/jats:italic>-related disease, characterized by a combination of different phenotypic features. At birth, patients present platelet macrocytosis, thrombocytopenia and leukocyte inclusions containing NMMHC-IIA. Moreover, later in life some of them develop the additional features of sensorineural hearing loss, cataracts and\/or glomerulonephritis that sometimes leads to end stage renal failure.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>To clarify the mechanism by which the mutant NMMHC-IIA could cause phenotypic anomalies at the cellular level, we examined the effect of transfection of the full-length mutated D1424H <jats:italic>MYH9<\/jats:italic> cDNAs. We have observed, by confocal microscopy, abnormal distribution of the protein and formation of rod-like aggregates reminiscent of the leukocyte inclusions found in patients. Co-transfection of differently labeled wild-type and mutant full-length cDNAs showed the simultaneous presence of both forms of the protein in the intracellular aggregates.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>These findings suggest that the NMMHC-IIA mutated in position 1424 is able to interact with the WT form in living cells, despite part of the mutant protein precipitates in non-functional aggregates. Transfection of the entire WT or mutant <jats:italic>MYH9<\/jats:italic> in cell lines represents a powerful experimental model to investigate consequences of <jats:italic>MYH9<\/jats:italic> mutations.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1755-8417-1-5","type":"journal-article","created":{"date-parts":[[2008,12,2]],"date-time":"2008-12-02T09:27:13Z","timestamp":1228210033000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines"],"prefix":"10.1186","volume":"1","author":[{"given":"Emanuele","family":"Panza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Marini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Pecci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Giacopelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Bozzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Balduini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Ravazzolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,12,1]]},"reference":[{"key":"5_CR1","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1097\/00005792-200305000-00006","volume":"82","author":"M Seri","year":"2003","unstructured":"Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A: 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. Medicine (Baltimore). 2003, 82: 203-215. 10.1097\/00005792-200305000-00006.","journal-title":"Medicine (Baltimore)"},{"key":"5_CR2","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/S0167-4889(00)00005-7","volume":"1496","author":"JR Sellers","year":"2000","unstructured":"Sellers JR: Myosins: a diverse superfamily. Biochim Biophys Acta. 2000, 1496: 3-22. 10.1016\/S0167-4889(00)00005-7.","journal-title":"Biochim Biophys Acta"},{"key":"5_CR3","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1182\/blood-2002-09-2783","volume":"102","author":"S Deutsch","year":"2003","unstructured":"Deutsch S, Rideau A, Bochaton-Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P: Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly\/Fechtner syndrome. Blood. 2003, 102: 529-534. 10.1182\/blood-2002-09-2783.","journal-title":"Blood"},{"key":"5_CR4","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1097\/01.LAB.0000050960.48774.17","volume":"83","author":"S Kunishima","year":"2003","unstructured":"Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H: Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003, 83: 115-122.","journal-title":"Lab Invest"},{"key":"5_CR5","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1182\/blood-2004-06-2067","volume":"105","author":"JD Franke","year":"2005","unstructured":"Franke JD, Dong F, Rickoll WL, Kelley MJ, Kiehart DP: Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. Blood. 2005, 105: 161-169. 10.1182\/blood-2004-06-2067.","journal-title":"Blood"},{"key":"5_CR6","doi-asserted-by":"publisher","first-page":"3169","DOI":"10.1093\/hmg\/ddi344","volume":"14","author":"A Pecci","year":"2005","unstructured":"Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M: Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet. 2005, 14: 3169-3178. 10.1093\/hmg\/ddi344.","journal-title":"Hum Mol Genet"},{"key":"5_CR7","doi-asserted-by":"crossref","first-page":"345","DOI":"10.4081\/845","volume":"47","author":"T Takubo","year":"2003","unstructured":"Takubo T, Wakui S, Daigo K, Kurokata K, Ohashi T, Katayama K, Hino M: Expression of non-muscle type myosin heavy polypeptide 9 (MYH9) in mammalian cells. Eur J Histochem. 2003, 47: 345-352.","journal-title":"Eur J Histochem"},{"issue":"Pt 11","key":"5_CR8","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 CL, Adelstein RS, Pollard TD: Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci. 1994, 107 (Pt 11): 3077-3090.","journal-title":"J Cell Sci"},{"key":"5_CR9","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1046\/j.1365-2141.2002.03385.x","volume":"117","author":"A Pecci","year":"2002","unstructured":"Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri GM, Sartore S, Gangarossa S, Bizzaro N, Balduini CL: Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol. 2002, 117: 164-167. 10.1046\/j.1365-2141.2002.03385.x.","journal-title":"Br J Haematol"},{"key":"5_CR10","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1053\/ajkd.2003.50028","volume":"41","author":"GM Ghiggeri","year":"2003","unstructured":"Ghiggeri GM, Caridi G, Magrini U, Sessa A, Savoia A, Seri M, Pecci A, Romagnoli R, Gangarossa S, Noris P, Sartore S, Necchi V, Ravazzolo R, Balduini CL: Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis. 2003, 41: 95-104. 10.1053\/ajkd.2003.50028.","journal-title":"Am J Kidney Dis"},{"key":"5_CR11","doi-asserted-by":"publisher","first-page":"3015","DOI":"10.1182\/blood-2007-10-116194","volume":"111","author":"S Kunishima","year":"2008","unstructured":"Kunishima S, Hamaguchi M, Saito H: Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. 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