MYH9

Summary

Gene Symbol: MYH9
Description: myosin heavy chain 9
Alias: BDPLT6, DFNA17, EPSTS, FTNS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA, myosin-9, cellular myosin heavy chain, type A, myosin, heavy chain 9, non-muscle, non-muscle myosin heavy chain 9, non-muscle myosin heavy chain A, non-muscle myosin heavy chain IIa, non-muscle myosin heavy polypeptide 9, nonmuscle myosin heavy chain II-A
Species: human
Products:     MYH9

Top Publications

  1. Li Z, Spektor A, Varlamova O, Bresnick A. Mts1 regulates the assembly of nonmuscle myosin-IIA. Biochemistry. 2003;42:14258-66 pubmed
    ..Altogether, these observations are consistent with mts1 regulating myosin IIA assembly by monomer sequestration and suggest that mts1 regulates cell shape and motility through the modulation of myosin-IIA function. ..
  2. Dulyaninova N, Malashkevich V, Almo S, Bresnick A. Regulation of myosin-IIA assembly and Mts1 binding by heavy chain phosphorylation. Biochemistry. 2005;44:6867-76 pubmed
  3. Malashkevich V, Dulyaninova N, Ramagopal U, Liriano M, Varney K, Knight D, et al. Phenothiazines inhibit S100A4 function by inducing protein oligomerization. Proc Natl Acad Sci U S A. 2010;107:8605-10 pubmed publisher
    ..Together these studies support a unique mode of inhibition in which phenothiazines disrupt the S100A4/myosin-IIA interaction by sequestering S100A4 via small molecule-induced oligomerization. ..
  4. Kelley M, Jawien W, Ortel T, Korczak J. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000;26:106-8 pubmed
    ..Here we screen a candidate gene in this region, encoding non-muscle myosin heavy chain A (MYH9), for mutations in ten families...
  5. Miyazaki K, Kunishima S, Fujii W, Higashihara M. Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24. Eur J Haematol. 2009;83:230-4 pubmed publisher
    b>MYH9 disorders include hereditary macrothrombocytopenias with leukocyte inclusion bodies...
  6. Badyal S, Basran J, Bhanji N, Kim J, Chavda A, Jung H, et al. Mechanism of the Ca²+-dependent interaction between S100A4 and tail fragments of nonmuscle myosin heavy chain IIA. J Mol Biol. 2011;405:1004-26 pubmed publisher
  7. Jacobelli J, Chmura S, Buxton D, Davis M, Krummel M. A single class II myosin modulates T cell motility and stopping, but not synapse formation. Nat Immunol. 2004;5:531-8 pubmed
    ..Here we show that nonmuscle myosin heavy chain IIA, or MyH9, is the only class II myosin expressed in T cells and is associated with the uropod during crawling...
  8. De Rocco D, Pujol Moix N, Pecci A, Faletra F, Bozzi V, Balduini C, et al. Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene. Eur J Med Genet. 2009;52:191-4 pubmed publisher
    b>MYH9-related disease (MYH9RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA...
  9. Babbin B, Koch S, Bachar M, Conti M, Parkos C, Adelstein R, et al. Non-muscle myosin IIA differentially regulates intestinal epithelial cell restitution and matrix invasion. Am J Pathol. 2009;174:436-48 pubmed publisher

More Information

Publications71

  1. Maupin P, Phillips C, Adelstein R, Pollard T. Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci. 1994;107 ( Pt 11):3077-90 pubmed
    ..The superimposition of these small spots concentrated in the cleavage furrow produces the intense, uniform staining observed in conventional micrographs of whole cells. ..
  2. Nunez M, Saran A, Freedman B. Gene-gene and gene-environment interactions in HIV-associated nephropathy: A focus on the MYH9 nephropathy susceptibility gene. Adv Chronic Kidney Dis. 2010;17:44-51 pubmed publisher
    ..Although polymorphisms in the MYH9 gene on chromosome 22 are strongly associated with HIVAN, as well as with idiopathic focal segmental ..
  3. O Seaghdha C, Parekh R, Hwang S, Li M, Kottgen A, Coresh J, et al. The MYH9/APOL1 region and chronic kidney disease in European-Americans. Hum Mol Genet. 2011;20:2450-6 pubmed publisher
    Polymorphisms in the MYH9 and adjacent APOL1 gene region demonstrate a strong association with non-diabetic kidney disease in African-Americans...
  4. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo E, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003;83:115-22 pubmed
    ..disorders are caused by mutations in the same gene, the MYH9, which encodes the nonmuscle myosin heavy chain-A (NMMHCA)...
  5. Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi Y, Hosaka N, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46:722-9 pubmed
    ..with leukocyte inclusions, May-Hegglin anomaly (MHA), Sebastian syndrome (SBS), and Fechtner syndrome (FTNS), are rare platelet disorders characterized by a triad of giant platelets, thrombocytopenia, and characteristic Dö..
  6. Nelson G, Freedman B, Bowden D, Langefeld C, An P, Hicks P, et al. Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15. Hum Mol Genet. 2010;19:1805-15 pubmed publisher
    Admixture mapping recently identified MYH9 as a susceptibility gene for idiopathic focal segmental glomerulosclerosis (FSGS), HIV-associated nephropathy (HIVAN) and end-stage kidney disease attributed to hypertension (H-ESKD) in African ..
  7. Behar D, Rosset S, Tzur S, Selig S, Yudkovsky G, Bercovici S, et al. African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans. Hum Mol Genet. 2010;19:1816-27 pubmed publisher
    Recent studies identified MYH9 as a major susceptibility gene for common forms of non-diabetic end-stage kidney disease (ESKD)...
  8. Miyajima Y, Kunishima S. Identification of the first in cis mutations in MYH9 disorder. Eur J Haematol. 2009;82:288-91 pubmed publisher
    Here, we report the first in cis mutations in exon 1 of the MYH9 gene in a patient with MYH9 disorder. The patient was a 5-yr-old girl with macrothrombocytopenia and conspicuous cytoplasmic inclusion bodies in neutrophils...
  9. Breckenridge M, Dulyaninova N, Egelhoff T. Multiple regulatory steps control mammalian nonmuscle myosin II assembly in live cells. Mol Biol Cell. 2009;20:338-47 pubmed publisher
    ..This work furthermore offers cellular insights that help explain platelet and leukocyte defects associated with R1933-stop alleles of patients afflicted with human MYH9-related disorder.
  10. Kopp J, Smith M, Nelson G, Johnson R, Freedman B, Bowden D, et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet. 2008;40:1175-84 pubmed publisher
    ..2 and a peak lod of 12.4 centered on MYH9, a functional candidate gene expressed in kidney podocytes...
  11. Li Y, Friedmann D, Mhatre A, Lalwani A. MYH9-siRNA and MYH9 mutant alleles: expression in cultured cell lines and their effects upon cell structure and function. Cell Motil Cytoskeleton. 2008;65:393-405 pubmed publisher
    b>MYH9 encodes a class II nonmuscle myosin heavy chain-A (NMHC-IIA), a widely expressed 1960 amino acid polypeptide, with translated molecular weight of 220 kDa...
  12. Pecci A, Panza E, Pujol Moix N, Klersy C, Di Bari F, Bozzi V, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat. 2008;29:409-17 pubmed
    b>MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA)...
  13. Freedman B, Hicks P, Bostrom M, Comeau M, Divers J, Bleyer A, et al. Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Nephrol Dial Transplant. 2009;24:3366-71 pubmed publisher
    Although MYH9 is strongly associated with biopsy-proven idiopathic and HIV-associated focal segmental glomerulosclerosis (FSGS) and clinically diagnosed 'hypertension-associated' end-stage renal disease (ESRD) in African Americans, its ..
  14. Jia Z, Li Y, Chen C, Li S, Wang Y, Zheng Q, et al. Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. DNA Cell Biol. 2010;29:25-32 pubmed publisher
    Myosin heavy chain 9, nonmuscle (MYH9) and environmental factors have been shown to be associated with nonsyndromic cleft lip with or without cleft palate in several populations...
  15. Freedman B, Edberg J, Comeau M, Murea M, Bowden D, Divers J, et al. The non-muscle Myosin heavy chain 9 gene (MYH9) is not associated with lupus nephritis in African Americans. Am J Nephrol. 2010;32:66-72 pubmed publisher
    ..Since MYH9 underlies approximately 40% of end-stage renal disease (ESRD) in AA, we tested for genetic association with LN...
  16. Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, et al. Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet. 2010;128:345-50 pubmed publisher
    b>MYH9 has been proposed as a major genetic risk locus for a spectrum of nondiabetic end stage kidney disease (ESKD)...
  17. Bao J, Jana S, Adelstein R. Vertebrate nonmuscle myosin II isoforms rescue small interfering RNA-induced defects in COS-7 cell cytokinesis. J Biol Chem. 2005;280:19594-9 pubmed
  18. Han K, Lee H, Kang H, Moon K, Lee J, Park Y, et al. Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol. 2011;26:549-55 pubmed publisher
    b>MYH9-related disorders are a group of autosomal, dominantly inherited disorders caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA (NMMHC-IIA)...
  19. Zhang S, Wang G, Fernig D, Rudland P, Webb S, Barraclough R, et al. Interaction of metastasis-inducing S100A4 protein in vivo by fluorescence lifetime imaging microscopy. Eur Biophys J. 2005;34:19-27 pubmed
  20. Simons M, Wang M, McBride O, Kawamoto S, Yamakawa K, Gdula D, et al. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Circ Res. 1991;69:530-9 pubmed
    ..Comparison of this sequence to cDNA clones encoding the amino-terminal one third of the NMMHC-B sequence (amino acids 58-718) shows them to be 89% identical at the amino acid level and 74% identical at the nucleotide level. ..
  21. Franceschini N, Voruganti V, Haack K, Almasy L, Laston S, Goring H, et al. The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study. Hum Genet. 2010;127:295-301 pubmed publisher
    ..Recent research has identified associations of polymorphisms in the myosin heavy chain type II isoform A (MYH9) gene with hypertensive CKD in African-Americans...
  22. Ford H, Silver D, Kachar B, Sellers J, Zain S. Effect of Mts1 on the structure and activity of nonmuscle myosin II. Biochemistry. 1997;36:16321-7 pubmed
    ..The data demonstrate an effect of Mts1 on both myosin structure and function, and suggest a route through which Mts1 affects motility as well as metastasis. ..
  23. Xia Z, Yuan Y, Yin N, Yin B, Tan Z, Hu Y. Nonmuscle myosin IIA is associated with poor prognosis of esophageal squamous cancer. Dis Esophagus. 2012;25:427-36 pubmed publisher
    ..021). In addition, MYH9 SiRNA was transfected into esophageal squamous cancer cell line (KYSE-510) to study the role of myosin IIA in cell ..
  24. Ashley Koch A, Okocha E, Garrett M, Soldano K, De Castro L, Jonassaint J, et al. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol. 2011;155:386-94 pubmed publisher
    ..The myosin, heavy chain 9, non-muscle (MYH9) and apolipoprotein L1 (APOL1) genes have been associated with risk for focal segmental glomerulosclerosis and end-..
  25. House R, Pozzuto M, Patel P, Dulyaninova N, Li Z, Zencheck W, et al. Two functional S100A4 monomers are necessary for regulating nonmuscle myosin-IIA and HCT116 cell invasion. Biochemistry. 2011;50:6920-32 pubmed publisher
  26. Arrondel C, Vodovar N, Knebelmann B, Grunfeld J, Gubler M, Antignac C, et al. 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 pubmed
    Mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain IIA, have been recently reported in three syndromes that share the association of macrothrombocytopenia (MTCP) and leukocyte inclusions: the May-Hegglin anomaly ..
  27. Freedman B, Hicks P, Bostrom M, Cunningham M, Liu Y, Divers J, et al. 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;75:736-45 pubmed publisher
    ..association with idiopathic and HIV-related focal segmental glomerulosclerosis and non-muscle myosin heavy chain 9 (MYH9) gene polymorphisms in this ethnic group, we tested for MYH9 associations in a variety of kidney diseases...
  28. D Apolito M, Guarnieri V, Boncristiano M, Zelante L, Savoia A. Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes. Gene. 2002;286:215-22 pubmed
    Mutations in the non-muscle myosin heavy chain IIA gene (MYH9) are responsible for May-Hegglin anomaly, Sebastian, Fechtner and Epstein syndromes...
  29. Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, et al. 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;82:203-15 pubmed
    ..Mutations in the MYH9 gene encoding for the nonmuscle myosin heavy chain IIA (NMMHC-IIA) have been identified in all these syndromes...
  30. Tsai R, Discher D. Inhibition of "self" engulfment through deactivation of myosin-II at the phagocytic synapse between human cells. J Cell Biol. 2008;180:989-1003 pubmed publisher
    ..A point mutation turns off this motor's contribution to phagocytosis, suggesting that self-recognition inhibits contractile engulfment. ..
  31. Kunishima S, Matsushita T, Hamaguchi M, Saito H. Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders. Eur J Haematol. 2008;80:540-4 pubmed publisher
    b>MYH9 disorders are autosomal dominant macrothrombocytopenias with leukocyte inclusion bodies. Single point mutations in the protein-coding sequence of the MYH9 gene are the most common cause...
  32. Morin N, Oakes P, Hyun Y, Lee D, Chin Y, Chin E, et al. Nonmuscle myosin heavy chain IIA mediates integrin LFA-1 de-adhesion during T lymphocyte migration. J Exp Med. 2008;205:195-205 pubmed publisher
    ..Here, we show that nonmuscle myosin heavy chain IIA (MyH9) is recruited to LFA-1 at the uropod of migrating T lymphocytes, and inhibition of the association of MyH9 with LFA-..
  33. Cheng W, Zhou X, Zhu L, Shi S, Lv J, Liu L, et al. Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with the progression of IgA nephropathy in Chinese. Nephrol Dial Transplant. 2011;26:2544-9 pubmed publisher
    ..A recent genome-wide association study (GWAS) indicated that the MYH9 gene was significantly associated with non-diabetic ESRD in African-Americans and also influenced kidney function ..
  34. Liang S, He L, Zhao X, Miao Y, Gu Y, Guo C, et al. MicroRNA let-7f inhibits tumor invasion and metastasis by targeting MYH9 in human gastric cancer. PLoS ONE. 2011;6:e18409 pubmed publisher
    ..Luciferase reporter assays demonstrated that let-7f directly binds to the 3'UTR of MYH9, which codes for myosin IIA, and real-time PCR and Western blotting further indicated that let-7f downregulated the ..
  35. Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, et al. Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost. 2010;103:826-32 pubmed publisher
    b>MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage...
  36. Winkler C, Nelson G, Oleksyk T, Nava M, Kopp J. Genetics of focal segmental glomerulosclerosis and human immunodeficiency virus-associated collapsing glomerulopathy: the role of MYH9 genetic variation. Semin Nephrol. 2010;30:111-25 pubmed publisher
    ..Admixture mapping identified genetic variants in the nonmuscle myosin heavy chain 9 gene (MYH9) as having a major influence on both FSGS and human immunodeficiency virus-associated collapsing glomerulopathy, ..
  37. Wei C, Lalwani A, Mhatre A. In vitro expression and characterization of MYH9 mutant alleles linked to hereditary hearing loss. Otolaryngol Head Neck Surg. 2010;142:699-703 pubmed publisher
    To assess whether MYH9 mutant alleles linked to hereditary hearing loss induce disruption of cellular functions and associated phenotype following transient expression within cultured human cell lines...
  38. Matsha T, Masconi K, Yako Y, Hassan M, Macharia M, Erasmus R, et al. Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa. PLoS ONE. 2012;7:e52529 pubmed publisher
    Though single nucleotide polymorphisms (SNPs) in the non-muscle myosin gene (MYH9) have been reported to explain most of the excess risk of nondiabetic chronic kidney disease (CKD), in African-Americans, some studies have also shown ..
  39. Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet. 2005;14:3169-78 pubmed
    Mutations of MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA), cause a complex clinical phenotype characterized by macrothrombocytopenia and granulocyte inclusion bodies, often associated with deafness, cataracts and/or ..
  40. Toothaker L, Gonzalez D, Tung N, Lemons R, Le Beau M, Arnaout M, et al. Cellular myosin heavy chain in human leukocytes: isolation of 5' cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation. Blood. 1991;78:1826-33 pubmed
    ..This cellular myosin heavy chain may be a major contractile protein responsible for movement in myeloid cell lines because no mRNA for sarcomeric myosin heavy chain is detected in these cells. ..
  41. Wei Q, Adelstein R. Conditional expression of a truncated fragment of nonmuscle myosin II-A alters cell shape but not cytokinesis in HeLa cells. Mol Biol Cell. 2000;11:3617-27 pubmed
  42. Pattaro C, Aulchenko Y, Isaacs A, Vitart V, Hayward C, Franklin C, et al. Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney Int. 2009;76:297-306 pubmed publisher
    ..and hypertension, was detected over a region containing the non-muscle myosin heavy chain type II isoform A (MYH9) gene (LOD score=3.52)...
  43. Sandquist J, Swenson K, DeMali K, Burridge K, Means A. Rho kinase differentially regulates phosphorylation of nonmuscle myosin II isoforms A and B during cell rounding and migration. J Biol Chem. 2006;281:35873-83 pubmed
    ..Our data suggest that the myosin IIA and IIB isoforms are regulated by different signaling pathways to perform distinct cellular activities and that myosin IIA is preferentially required for Rho-mediated contractile functions. ..
  44. Freedman B, Kopp J, Winkler C, Nelson G, Rao D, Eckfeldt J, et al. 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;29:626-32 pubmed publisher
    b>MYH9 is a podocyte-expressed gene encoding nonmuscle myosin IIA that is associated with idiopathic and human immunodeficiency virus-associated focal segmental glomerulosclerosis (FSGS) and hypertensive end-stage renal disease in African ..
  45. Dulyaninova N, House R, Betapudi V, Bresnick A. Myosin-IIA heavy-chain phosphorylation regulates the motility of MDA-MB-231 carcinoma cells. Mol Biol Cell. 2007;18:3144-55 pubmed
    ..In contrast, cells expressing the S1943A mutant exhibited reduced migration and lamellipod extension. These observations support a direct role for myosin-IIA heavy-chain phosphorylation in mediating motility and chemotaxis. ..
  46. Baba T, Fusaki N, Shinya N, Iwamatsu A, Hozumi N. Myosin is an in vivo substrate of the protein tyrosine phosphatase (SHP-1) after mIgM cross-linking. Biochem Biophys Res Commun. 2003;304:67-72 pubmed
    ..Thus, myosin is a direct SHP-1 substrate in B cells. The results suggest that SHP-1 plays a critical role in the reorganization of cytoskeletal architecture mediated via BCR stimulation. ..
  47. Hays T, D Agati V, Garellek J, Warren T, Trubin M, Hyink D, et al. Glomerular MYH9 expression is reduced by HIV-1. AIDS. 2012;26:797-803 pubmed publisher
    ..Given that loss of MYH9 function causes a Mendelian renal disease, we hypothesized that renal expression of MYH9 is down-regulated by HIV-1 ..
  48. Lin C, Adrianto I, Lessard C, Kelly J, Kaufman K, Guthridge J, et al. Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis. Genes Immun. 2012;13:232-8 pubmed publisher
    ..Multiple studies reported associations between renal diseases and variants in the non-muscle myosin heavy chain 9 (MYH9) and the neighboring apolipoprotein L 1 (APOL1) genes...
  49. Cooke J, Bostrom M, Hicks P, Ng M, Hellwege J, Comeau M, et al. Polymorphisms in MYH9 are associated with diabetic nephropathy in European Americans. Nephrol Dial Transplant. 2012;27:1505-11 pubmed publisher
    Polymorphisms in the non-muscle myosin IIA gene (MYH9) are associated with focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease (ESRD) in African Americans and FSGS in European Americans...
  50. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000;26:103-5 pubmed
    The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte ..
  51. Kao W, Klag M, Meoni L, Reich D, Berthier Schaad Y, Li M, et al. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet. 2008;40:1185-92 pubmed publisher
    ..2 to 0.6) in the gene encoding nonmuscle myosin heavy chain type II isoform A (MYH9) were associated with two to four times greater risk of nondiabetic ESRD and accounted for a large proportion of ..
  52. Heath K, Campos Barros A, Toren A, Rozenfeld Granot G, Carlsson L, Savige J, et al. 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;69:1033-45 pubmed
    ..mutations, K371N and R702H, as well as the recently identified MYH9 mutation, R705H, which results in DFNA17, were modeled on the basis of X-ray crystallographic data...
  53. Freedman B, Langefeld C, Lu L, Divers J, Comeau M, Kopp J, et al. Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans. PLoS Genet. 2011;7:e1002150 pubmed publisher
    Single nucleotide polymorphisms (SNPs) in MYH9 and APOL1 on chromosome 22 (c22) are powerfully associated with non-diabetic end-stage renal disease (ESRD) in African Americans (AAs)...
  54. Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri G, et al. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol. 2002;117:164-7 pubmed
    May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with Döhle-like leucocyte inclusions...
  55. Bostrom M, Freedman B. The spectrum of MYH9-associated nephropathy. Clin J Am Soc Nephrol. 2010;5:1107-13 pubmed publisher
    ..Recently, polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) have been associated with nondiabetic kidney diseases in African- and European-derived populations...
  56. Genovese G, Tonna S, Knob A, Appel G, Katz A, Bernhardy A, et al. A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. Kidney Int. 2010;78:698-704 pubmed publisher
    Genetic variation at the MYH9 locus is linked to the high incidence of focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease among African Americans...
  57. Marini M, Bruschi M, Pecci A, Romagnoli R, Musante L, Candiano G, et al. Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease. Int J Mol Med. 2006;17:729-36 pubmed
    ..This argument is relevant not only to cell physiology, but also to human pathology since mutations of the MYH9 gene encoding non-muscle myosin heavy chain II A (NMMHC-A) cause MYH9-related disease (MYH9-RD), an autosomal ..
  58. Even Ram S, Doyle A, Conti M, Matsumoto K, Adelstein R, Yamada K. Myosin IIA regulates cell motility and actomyosin-microtubule crosstalk. Nat Cell Biol. 2007;9:299-309 pubmed
    ..We conclude that myosin IIA negatively regulates cell migration and suggest that it maintains a balance between the actomyosin and microtubule systems by regulating microtubule dynamics. ..
  59. Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong W, et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010;78:207-14 pubmed publisher
    ..underlie rare autosomal dominant diseases such as May-Hegglin anomaly, and Sebastian, Epstein (EPS), and Fechtner (FTNS) syndromes that are characterized by macrothrombocytopenia and cytoplasmic inclusion bodies in granulocytes...
  60. Noris P, Pecci A, Di Bari F, Di Stazio M, Di Pumpo M, Ceresa I, et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica. 2004;89:1219-25 pubmed
    ..The diagnostic algorithm recognized: 4 homozygous and 4 heterozygous Bernard-Soulier syndromes, 11 MYH9-related diseases, one von WillebrandOs disease type 2B, one gray platelet syndrome and one X-linked ..
  61. Oleksyk T, Nelson G, An P, Kopp J, Winkler C. Worldwide distribution of the MYH9 kidney disease susceptibility alleles and haplotypes: evidence of historical selection in Africa. PLoS ONE. 2010;5:e11474 pubmed publisher
    b>MYH9 was recently identified as renal susceptibility gene (OR 3-8, p < 10(-8)) for major forms of kidney disease disproportionately affecting individuals of African descent...
  62. 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. Blood. 2008;111:3015-23 pubmed publisher
    b>MYH9 disorders such as May-Hegglin anomaly are characterized by macrothrombocytopenia and cytoplasmic granulocyte inclusion bodies that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA (NMMHC-IIA)...