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American Journal of Kidney Diseases
Volume 54, Issue 4
, Pages 732-740
, October 2009
CKD in MYH9-Related Disorders
References
- Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes (The May-Hegglin/Fechtner Syndrome Consortium). Nat Genet. 2000;26:103–105
- . Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000;26:106–108
- Epstein syndrome: Another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet. 2002;110:182–186
- Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Hum Genet. 1999;105:379–383
- . Leukozyteneinschlusse. Deutsch Arch Klin Med. 1909;96:1–6
- . Gleichzeitige konstitutionelle veranderungen an neutrophilen und Thrombozyten. Helv Med Acta. 1945;12:439–440
- . Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut. 1990;61:282–288
- . Fechtner syndrome—A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood. 1985;65:397–406
- Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med. 1972;52:299–310
- . The inclusions of the May-Hegglin anomaly and Dohle bodies of infection: An ultrastructural comparison. Br J Haematol. 1972;22:491–496
- . Inherited thrombocytopenias: From genes to therapy. Haematologica. 2002;87:860–880
- 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
- Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001;69:1033–1045
- Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46:722–729
- No authors listed A.C. Alport. Br Med J. 1959;1:1191–1192
- MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet. 2008;40:1175–1184
- MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet. 2008;40:1185–1192
- Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. Kidney Int. 2009;75:736–745
- Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: The HyperGEN Study. Am J Nephrol. 2009;29:626–632
- Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol. 2005;130:620–627
- Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat. 2008;29:409–417
- First description of somatic mosaicism in MYH9 disorders. Br J Haematol. 2005;128:360–365
- . Germinal mosaicism in MYH9 disorders: A family with two affected siblings of normal parents. Br J Haematol. 2009;145:260–262
- Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Circ Res. 1991;69:530–539
- . A millennial myosin census. Mol Biol Cell. 2001;12:780–794
- . Myosins: A diverse superfamily. Biochim Biophys Acta. 2000;1496:3–22
- . Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci. 1994;107:3077–3090
- Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Genomics. 2004;83:1125–1133
- The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood. 2007;110:171–179
- . Platelet survival in the May-Hegglin anomaly. Br J Haematol. 1966;12:61–65
- . Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. Blut. 1990;60:53–60
- . Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood. 2008;111:3015–3023
- Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood. 2001;97:1147–1149
- 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
- . The cytoskeleton of the resting human blood platelet: Structure of the membrane skeleton and its attachment to actin filaments. J Cell Biol. 1991;112:407–425
- . Conditional expression of a truncated fragment of nonmuscle myosin II-A alters cell shape but not cytokinesis in HeLa cells. Mol Biol Cell. 2000;11:3617–3627
- . Platelet size and shape in hereditary giant platelet syndromes on blood smear and in suspension: Evidence for two types of abnormalities. J Lab Clin Med. 1985;106:326–335
- Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica. 2002;87:943–947
- 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
- . Congenital disorders of the function of polymorphonuclear neutrophils. Rev Infect Dis. 1980;2:505–517
- Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol. 2002;13:65–74
- Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis. 2003;41:95–104
- . Ultrastructural organization of contractile and cytoskeletal proteins in glomerular podocytes of chicken, rat, and man. Lab Invest. 1988;59:673–682
- . [Macrothrombopenia, nephritis and hearing loss—A new case of Epstein syndrome]. Orv Hetil. 1991;132:1875–1877
- [A case report of Epstein syndrome]. Nippon Jinzo Gakkai Shi. 1995;37:62–68
- . End-stage renal disease in two pediatric patients with Fechtner syndrome. Pediatr Nephrol. 1999;13:782–786
- . Platelet function, ultrastructure, and survival in the May-Hegglin anomaly. Am J Clin Pathol. 1980;74:663–668
- . The May-Hegglin anomaly: Ultrastructure of the granulocytic inclusion. Am J Clin Pathol. 1971;55:187–196
- . Successful splenectomy in May-Hegglin anomaly: Report of a case with platelet kinetic studies. Acta Haematol. 1989;82:43–45
- . Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet. 2000;67:1121–1128
- . In vitro and in vivo effects of desmopressin on platelet function. Haematologica. 1999;84:891–896
- . Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant. 2008;23:2690–2692
- . Successful renal transplantation for Epstein syndrome. Am J Hematol. 1986;21:111–113
- . May-Hegglin anomaly: A case of vaginal delivery when both mother and fetus are affected. Am J Obstet Gynecol. 1998;179:260–261
Originally published online as doi: 10.1053/j.ajkd.2009.06.023 on September 3, 2009.
PII: S0272-6386(09)00941-X
doi: 10.1053/j.ajkd.2009.06.023
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American Journal of Kidney Diseases
Volume 54, Issue 4
, Pages 732-740
, October 2009
