{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:15:38Z","timestamp":1789179338188,"version":"build-2803163510"},"reference-count":33,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2003,1]]},"DOI":"10.1053\/ajkd.2003.50028","type":"journal-article","created":{"date-parts":[[2002,12,24]],"date-time":"2002-12-24T04:37:53Z","timestamp":1040704673000},"page":"95-104","source":"Crossref","is-referenced-by-count":86,"title":["Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)"],"prefix":"10.1053","volume":"41","author":[{"given":"Gian Marco","family":"Ghiggeri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Caridi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Magrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adalberto","family":"Sessa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Savoia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Pecci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Romagnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Gangarossa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Noris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saverio","family":"Sartore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittorio","family":"Necchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ravazzolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo L.","family":"Balduini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/ajkd.2003.50028_bib1","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary familial congenital hemorrhagic nephritis","volume":"1","author":"Alport","year":"1927","journal-title":"BMJ"},{"key":"10.1053\/ajkd.2003.50028_bib2","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1097\/00005792-199909000-00005","article-title":"Alport syndrome","volume":"78","author":"Kashtan","year":"1999","journal-title":"Medicine (Baltimore)"},{"key":"10.1053\/ajkd.2003.50028_bib3","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1182\/blood.V65.2.397.397","article-title":"Fechtner syndrome\u2014A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia","volume":"65","author":"Peterson","year":"1985","journal-title":"Blood"},{"key":"10.1053\/ajkd.2003.50028_bib4","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/0002-9343(72)90017-4","article-title":"Hereditary macrothrombocytopathia, nephritis and deafness","volume":"52","author":"Epstein","year":"1972","journal-title":"Am J Med"},{"key":"10.1053\/ajkd.2003.50028_bib5","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1007\/s00439-001-0659-1","article-title":"Epstein syndrome: Another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene","volume":"110","author":"Seri","year":"2002","journal-title":"Hum Genet"},{"key":"10.1053\/ajkd.2003.50028_bib6","first-page":"473","article-title":"Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)","volume":"27","author":"Hinglais","year":"1972","journal-title":"Lab Invest"},{"key":"10.1053\/ajkd.2003.50028_bib7","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1136\/jcp.50.11.919","article-title":"Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome","volume":"50","author":"Naito","year":"1997","journal-title":"J Clin Pathol"},{"key":"10.1053\/ajkd.2003.50028_bib8","first-page":"1","article-title":"Alport syndrome: Clinical phenotypes, incidence and pathology","volume":"vol 1","author":"Gregory","year":"1996"},{"key":"10.1053\/ajkd.2003.50028_bib9","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/79063","article-title":"Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin\/Fechtner Syndrome Consortium","volume":"26","author":"Seri","year":"2000","journal-title":"Nat Genet"},{"key":"10.1053\/ajkd.2003.50028_bib10","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/79069","article-title":"Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly","volume":"26","author":"Kelley","year":"2000","journal-title":"Nat Genet"},{"key":"10.1053\/ajkd.2003.50028_bib11","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1182\/blood.V97.4.1147","article-title":"Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly\/Sebastian syndrome)","volume":"97","author":"Kunishima","year":"2001","journal-title":"Blood"},{"key":"10.1053\/ajkd.2003.50028_bib12","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1086\/324267","article-title":"Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes","volume":"69","author":"Heath","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1053\/ajkd.2003.50028_bib13","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1016\/S0002-9297(07)62942-5","article-title":"Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9","volume":"67","author":"Lalwani","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1053\/ajkd.2003.50028_bib14","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1038\/sj.ejhg.5200533","article-title":"Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11-q13","volume":"8","author":"Cusano","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1053\/ajkd.2003.50028_bib15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0014-4827(90)90136-X","article-title":"Nonmuscle and smooth muscle myosin isoforms in bovine endothelial cells","volume":"190","author":"Borrione","year":"1990","journal-title":"Exp Cell Res"},{"key":"10.1053\/ajkd.2003.50028_bib16","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/BF00194701","article-title":"Expression of myosin heavy chain isoforms in mammary epithelial cells and in myofibroblasts from different fibrotic settings during neoplasia","volume":"426","author":"Chiavegato","year":"1995","journal-title":"Virchows Arch"},{"key":"10.1053\/ajkd.2003.50028_bib17","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1161\/01.ATV.17.7.1210","article-title":"Myosin gene expression and cell phenotypes in vascular smooth muscle during development, in experimental models, and in vascular disease","volume":"17","author":"Sartore","year":"1997","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1053\/ajkd.2003.50028_bib18","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0896-6273(92)90106-N","article-title":"Myosin II distribution in neurons is consistent with a role in growth cone motility but not synaptic vesicle mobilization","volume":"8","author":"Miller","year":"1992","journal-title":"Neuron"},{"key":"10.1053\/ajkd.2003.50028_bib19","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0002-9343(98)00062-X","article-title":"Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): Clinical and laboratory findings","volume":"104","author":"Noris","year":"1998","journal-title":"Am J Med"},{"key":"10.1053\/ajkd.2003.50028_bib20","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/aja.1001750211","article-title":"Postembedding immunogold labeling for electron microscopy using \u201cLR White\u201d resin","volume":"175","author":"Timms","year":"1986","journal-title":"Am J Anat"},{"key":"10.1053\/ajkd.2003.50028_bib21","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1091\/mbc.12.4.780","article-title":"A millennial myosin census","volume":"12","author":"Berg","year":"2001","journal-title":"Mol Biol Cell"},{"key":"10.1053\/ajkd.2003.50028_bib22","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","article-title":"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome","volume":"24","author":"Boute","year":"2000","journal-title":"Nat Genet"},{"key":"10.1053\/ajkd.2003.50028_bib23","doi-asserted-by":"crossref","first-page":"2742","DOI":"10.1681\/ASN.V12122742","article-title":"Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis","volume":"12","author":"Caridi","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/ajkd.2003.50028_bib24","doi-asserted-by":"crossref","first-page":"3077","DOI":"10.1242\/jcs.107.11.3077","article-title":"Differential localization of myosin-II isozymes in human cultured cells and blood cells","volume":"107","author":"Maupin","year":"1994","journal-title":"J Cell Sci"},{"key":"10.1053\/ajkd.2003.50028_bib25","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1242\/jcs.111.15.2085","article-title":"Cytoplasmic dynamics of myosin IIA and IIB: Spatial \u2018sorting\u2019 of isoforms in locomoting cells","volume":"111","author":"Kolega","year":"1998","journal-title":"J Cell Sci"},{"key":"10.1053\/ajkd.2003.50028_bib26","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0167-4889(00)00005-7","article-title":"Myosins: A diverse superfamily","volume":"1496","author":"Sellers","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1053\/ajkd.2003.50028_bib27","doi-asserted-by":"crossref","first-page":"41543","DOI":"10.1074\/jbc.C100452200","article-title":"Interaction with podocin facilitates nephrin signaling","volume":"276","author":"Huber","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1053\/ajkd.2003.50028_bib28","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1172\/JCI200112849","article-title":"Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin","volume":"108","author":"Schwarz","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1053\/ajkd.2003.50028_bib29","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1111\/j.1365-2141.1972.tb05694.x","article-title":"The inclusions of the May-Hegglin anomaly and D\u00f6hle bodies of infection: An ultrastructural comparison","volume":"22","author":"Cawley","year":"1972","journal-title":"Br J Haematol"},{"key":"10.1053\/ajkd.2003.50028_bib30","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/BF01720508","article-title":"Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes","volume":"60","author":"Greinacher","year":"1990","journal-title":"Blut"},{"key":"10.1053\/ajkd.2003.50028_bib31","first-page":"673","article-title":"Ultrastructural organization of contractile and cytoskeletal proteins in glomerular podocytes of chicken, rat, and man","volume":"59","author":"Drenckhahn","year":"1988","journal-title":"Lab Invest"},{"key":"10.1053\/ajkd.2003.50028_bib32","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1111\/j.1440-1827.1994.tb01718.x","article-title":"Modulation of cytoskeletal organization of podocytes during the course of aminonucleoside nephrosis in rats","volume":"44","author":"Kubosawa","year":"1994","journal-title":"Pathol Int"},{"key":"10.1053\/ajkd.2003.50028_bib33","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1681\/ASN.V13165","article-title":"Expression of the nonmuscle heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes","volume":"13","author":"Arrondel","year":"2002","journal-title":"J Am Soc Nephrol"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638603500142?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638603500142?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,2]],"date-time":"2021-06-02T11:13:23Z","timestamp":1622632403000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638603500142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,1]]}},"alternative-id":["S0272638603500142"],"URL":"https:\/\/doi.org\/10.1053\/ajkd.2003.50028","relation":{},"ISSN":["0272-6386"],"issn-type":[{"value":"0272-6386","type":"print"}],"subject":[],"published":{"date-parts":[[2003,1]]}}}