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Volumn 82, Issue 4, 2009, Pages 288-291

Identification of the first in cis mutations in MYH9 disorder

Author keywords

Alport manifestation; Double mutations; Leukocyte inclusion bodies; MYH9 disorder; Non muscle myosin heavy chain IIA

Indexed keywords

POLYCLONAL ANTIBODY; PROTEIN;

EID: 61349086614     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2008.01202.x     Document Type: Article
Times cited : (6)

References (20)
  • 1
    • 0033812573 scopus 로고    scopus 로고
    • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
    • The May-Hegglin/ Fechtner Syndrome Consortium.
    • The May-Hegglin/ Fechtner Syndrome Consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nat Genet 2000 26 : 103 5.
    • (2000) Nat Genet , vol.26 , pp. 103-5
  • 2
    • 0033822065 scopus 로고    scopus 로고
    • Mutation of MHY9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
    • Kelley MJ, Jawien W, Ortel T, Korczak JF. Mutation of MHY9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 2000 26 : 106 8.
    • (2000) Nat Genet , vol.26 , pp. 106-8
    • Kelley, M.J.1    Jawien, W.2    Ortel, T.3    Korczak, J.F.4
  • 3
    • 0035865524 scopus 로고    scopus 로고
    • Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
    • Kunishima S, Kojima T, Matsushita T, et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 2001 97 : 1147 9.
    • (2001) Blood , vol.97 , pp. 1147-9
    • Kunishima, S.1    Kojima, T.2    Matsushita, T.3
  • 5
    • 18244406592 scopus 로고    scopus 로고
    • Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
    • Kunishima S, Matsushita T, Kojima T, 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.
    • (2001) J Hum Genet , vol.46 , pp. 722-9
    • Kunishima, S.1    Matsushita, T.2    Kojima, T.3
  • 6
    • 0036138503 scopus 로고    scopus 로고
    • Expression of nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes
    • Arrondel C, Vodovar N, Knebelmann B, Grünfeld JP, Gubler MC, Antignac C, Heidet L. Expression of nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 2001 13 : 65 74.
    • (2001) J Am Soc Nephrol , vol.13 , pp. 65-74
    • Arrondel, C.1    Vodovar, N.2    Knebelmann, B.3    Grünfeld, J.P.4    Gubler, M.C.5    Antignac, C.6    Heidet, L.7
  • 7
    • 0034755959 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndrome
    • Heath KE, Campos-Barros A, Toren A, 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 syndrome. Am J Hum Genet 2001 69 : 1033 45.
    • (2001) Am J Hum Genet , vol.69 , pp. 1033-45
    • Heath, K.E.1    Campos-Barros, A.2    Toren, A.3
  • 8
    • 0037910378 scopus 로고    scopus 로고
    • 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
    • Seri M, Pecci A, DiBari F, 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 2003 82 : 203 15.
    • (2003) Medicine , vol.82 , pp. 203-15
    • Seri, M.1    Pecci, A.2    Dibari, F.3
  • 10
    • 33644522742 scopus 로고    scopus 로고
    • Congenital macrothrombocytopenias
    • Kunishima S, Saito H. Congenital macrothrombocytopenias. Blood Rev 2006 20 : 111 21.
    • (2006) Blood Rev , vol.20 , pp. 111-21
    • Kunishima, S.1    Saito, H.2
  • 11
    • 40549091624 scopus 로고    scopus 로고
    • Position on nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
    • Pecci A, Panza E, Pujol-Moix N, et al. Position on nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008 29 : 409 17.
    • (2008) Hum Mutat , vol.29 , pp. 409-17
    • Pecci, A.1    Panza, E.2    Pujol-Moix, N.3
  • 13
    • 0037245023 scopus 로고    scopus 로고
    • Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain- A in MYH9 disorders: Association of subcellular localization with MYH9 mutations
    • 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 22.
    • (2003) Lab Invest , vol.83 , pp. 115-22
    • Kunishima, S.1    Matsushita, T.2    Kojima, T.3    Sako, M.4    Kimura, F.5    Jo, E.K.6    Inoue, C.7    Kamiya, T.8    Saito, H.9
  • 14
    • 0034677906 scopus 로고    scopus 로고
    • Myosins: A diverse superfamily
    • Sellers JR. Myosins: a diverse superfamily. Biochim Biophys Acta 2000 1496 : 3 22.
    • (2000) Biochim Biophys Acta , vol.1496 , pp. 3-22
    • Sellers, J.R.1
  • 15
    • 33745785829 scopus 로고    scopus 로고
    • Hematological and genetic characterization of an MYH9-related disorder in a Chinese family
    • Ma ES, Wong CL, Shek TW, Hui SP. Hematological and genetic characterization of an MYH9-related disorder in a Chinese family. Haematologica 2006 91 : 1002 3.
    • (2006) Haematologica , vol.91 , pp. 1002-3
    • Ma, E.S.1    Wong, C.L.2    Shek, T.W.3    Hui, S.P.4
  • 16
    • 12444283806 scopus 로고    scopus 로고
    • Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness
    • Kunishima S, Matsushita T, Shiratsuchi T, Ikuta T, Nishimura J, Hamaguchi M, Naoe T, Saito H. Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness. Eur J Haematol 2005 74 : 1 5.
    • (2005) Eur J Haematol , vol.74 , pp. 1-5
    • Kunishima, S.1    Matsushita, T.2    Shiratsuchi, T.3    Ikuta, T.4    Nishimura, J.5    Hamaguchi, M.6    Naoe, T.7    Saito, H.8
  • 17
    • 61349158716 scopus 로고    scopus 로고
    • Identification of 8 novel mutation in the non-muscle myosin heavy chain 9 (MYH9) gene in 11 unrelated patients with macrothrombocytopenia
    • PT223.
    • Saposnik B, Binard S, Elbaz S, et al. Identification of 8 novel mutation in the non-muscle myosin heavy chain 9 (MYH9) gene in 11 unrelated patients with macrothrombocytopenia. J Thromb Haematol 2007 5 (Suppl. 2 PT223.
    • (2007) J Thromb Haematol , vol.5 , Issue.2
    • Saposnik, B.1    Binard, S.2    Elbaz, S.3
  • 19
    • 42449140234 scopus 로고    scopus 로고
    • Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders
    • 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.
    • (2008) Blood , vol.111 , pp. 3015-23
    • Kunishima, S.1    Hamaguchi, M.2    Saito, H.3
  • 20
    • 0942266051 scopus 로고    scopus 로고
    • Inherited thrombocytopenia: When a low platelet count does not mean ITP
    • Drachman JG. Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood 2004 103 : 390 8.
    • (2004) Blood , vol.103 , pp. 390-8
    • Drachman, J.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.