메뉴 건너뛰기




Volumn 41, Issue 1, 2003, Pages 95-104

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

Author keywords

Alport like syndrome; Fechtner syndrome (FTNS); Inherited glomerulonephrites; Nonmuscle myosin; Podocin

Indexed keywords

MYOSIN IIA;

EID: 0037225967     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/ajkd.2003.50028     Document Type: Article
Times cited : (96)

References (33)
  • 1
    • 84965236793 scopus 로고
    • Hereditary familial congenital hemorrhagic nephritis
    • Alport AC: Hereditary familial congenital hemorrhagic nephritis. BMJ 1:540-506, 1927
    • (1927) BMJ , vol.1 , pp. 540-506
    • Alport, A.C.1
  • 2
    • 0032823921 scopus 로고    scopus 로고
    • Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes
    • Kashtan CE: Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 78:338-360, 1999
    • (1999) Medicine (Baltimore) , vol.78 , pp. 338-360
    • Kashtan, C.E.1
  • 3
    • 0021956321 scopus 로고
    • Fechtner syndrome - A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
    • Peterson LC, Rao KV, Crosson JT, White JG: Fechtner syndrome - A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65:397-406, 1985
    • (1985) Blood , vol.65 , pp. 397-406
    • Peterson, L.C.1    Rao, K.V.2    Crosson, J.T.3    White, J.G.4
  • 4
    • 0015304377 scopus 로고
    • Hereditary macrothrombocytopathia, nephritis and deafness
    • Epstein CJ, Sahud MA, Piel CF, et al: Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 52:299-310, 1972
    • (1972) Am J Med , vol.52 , pp. 299-310
    • Epstein, C.J.1    Sahud, M.A.2    Piel, C.F.3
  • 5
    • 0036488013 scopus 로고    scopus 로고
    • Epstein syndrome: Another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene
    • Seri M, Savino M, Bordo D, et al: Epstein syndrome: Another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet 110:182-186, 2002
    • (2002) Hum Genet , vol.110 , pp. 182-186
    • Seri, M.1    Savino, M.2    Bordo, D.3
  • 6
    • 0015421264 scopus 로고
    • Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)
    • Hinglais N, Grunfeld JP, Bois E: Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 27:473-487, 1972
    • (1972) Lab Invest , vol.27 , pp. 473-487
    • Hinglais, N.1    Grunfeld, J.P.2    Bois, E.3
  • 7
    • 9844267961 scopus 로고    scopus 로고
    • Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome
    • Naito I, Nomura S, Inoue S, et al: Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome. J Clin Pathol 50:919-922, 1997
    • (1997) J Clin Pathol , vol.50 , pp. 919-922
    • Naito, I.1    Nomura, S.2    Inoue, S.3
  • 8
    • 0029689427 scopus 로고    scopus 로고
    • Alport syndrome: Clinical phenotypes, incidence and pathology
    • Tryggvason K (ed). Basel, Switzerland, Karger
    • Gregory MC, Terreros DA, Barker DF, et al: Alport syndrome: Clinical phenotypes, incidence and pathology, in Tryggvason K (ed): Molecular Pathology and Genetics of Alport Syndromes, vol 1. Basel, Switzerland, Karger, 1996, pp 1-28
    • (1996) Molecular Pathology and Genetics of Alport Syndromes , vol.1 , pp. 1-28
    • Gregory, M.C.1    Terreros, D.A.2    Barker, D.F.3
  • 9
    • 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
    • Seri M, Cusano R, Gangarossa S, et al: Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 26:103-105, 2000
    • (2000) Nat Genet , vol.26 , pp. 103-105
    • Seri, M.1    Cusano, R.2    Gangarossa, S.3
  • 10
    • 0033822065 scopus 로고    scopus 로고
    • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
    • Kelley MJ, Jawien W, Ortel TL, Korczak JF: Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26:106-108, 2000
    • (2000) Nat Genet , vol.26 , pp. 106-108
    • Kelley, M.J.1    Jawien, W.2    Ortel, T.L.3    Korczak, J.F.4
  • 11
    • 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 97:1147-1149, 2001
    • (2001) Blood , vol.97 , pp. 1147-1149
    • Kunishima, S.1    Kojima, T.2    Matsushita, T.3
  • 12
    • 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 syndromes
    • 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 syndromes. Am J Hum Genet 69:1033-1045, 2001
    • (2001) Am J Hum Genet , vol.69 , pp. 1033-1045
    • Heath, K.E.1    Campos-Barros, A.2    Toren, A.3
  • 13
    • 0033764817 scopus 로고    scopus 로고
    • Human nonsyndromic hereditary deafness DFNA 17 is due to a mutation in nonmuscle myosin MYH9
    • Lalwani AK, Goldstein JA, Kelley MJ, et al: Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 67:1121-1128, 2000
    • (2000) Am J Hum Genet , vol.67 , pp. 1121-1128
    • Lalwani, A.K.1    Goldstein, J.A.2    Kelley, M.J.3
  • 14
    • 0033678756 scopus 로고    scopus 로고
    • Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11-q 13
    • Cusano R, Gangarossa S, Forabosco P, et al: Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11-q13. Eur J Hum Genet 8:895-899, 2000
    • (2000) Eur J Hum Genet , vol.8 , pp. 895-899
    • Cusano, R.1    Gangarossa, S.2    Forabosco, P.3
  • 15
    • 0024992126 scopus 로고
    • Nonmuscle and smooth muscle myosin isoforms in bovine endothelial cells
    • Borrione AC, Zanellato AM, Giuriato L, et al: Nonmuscle and smooth muscle myosin isoforms in bovine endothelial cells. Exp Cell Res 190:1-10, 1990
    • (1990) Exp Cell Res , vol.190 , pp. 1-10
    • Borrione, A.C.1    Zanellato, A.M.2    Giuriato, L.3
  • 16
    • 0028932346 scopus 로고
    • Expression of myosin heavy chain isoforms in mammary epithelial cells and in myofibroblasts from different fibrotic settings during neoplasia
    • Chiavegato A, Bochaton-Piallat ML, D'Amore E, Sartore S, Gabbiani G: Expression of myosin heavy chain isoforms in mammary epithelial cells and in myofibroblasts from different fibrotic settings during neoplasia. Virchows Arch 426:77-86, 1995
    • (1995) Virchows Arch , vol.426 , pp. 77-86
    • Chiavegato, A.1    Bochaton-Piallat, M.L.2    D'Amore, E.3    Sartore, S.4    Gabbiani, G.5
  • 17
    • 0030857173 scopus 로고    scopus 로고
    • Myosin gene expression and cell phenotypes in vascular smooth muscle during development, in experimental models, and in vascular disease
    • Sartore S, Chiavegato A, Franch R, Faggin E, Pauletto P: Myosin gene expression and cell phenotypes in vascular smooth muscle during development, in experimental models, and in vascular disease. Arterioscler Thromb Vasc Biol 17:1210-1215, 1997
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 1210-1215
    • Sartore, S.1    Chiavegato, A.2    Franch, R.3    Faggin, E.4    Pauletto, P.5
  • 18
    • 0026557199 scopus 로고
    • Myosin II distribution in neurons is consistent with a role in growth cone motility but not synaptic vesicle mobilization
    • Miller M, Bower E, Levitt P, Li D, Chantler PD: Myosin II distribution in neurons is consistent with a role in growth cone motility but not synaptic vesicle mobilization. Neuron 8:25-44, 1992
    • (1992) Neuron , vol.8 , pp. 25-44
    • Miller, M.1    Bower, E.2    Levitt, P.3    Li, D.4    Chantler, P.D.5
  • 19
    • 0031894136 scopus 로고    scopus 로고
    • Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): Clinical and laboratory findings
    • Noris P, Spedini P, Belletti S, Magrini U, Balduini CL: Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): Clinical and laboratory findings. Am J Med 104:355-360, 1998
    • (1998) Am J Med , vol.104 , pp. 355-360
    • Noris, P.1    Spedini, P.2    Belletti, S.3    Magrini, U.4    Balduini, C.L.5
  • 20
    • 0022571016 scopus 로고
    • Postembedding immunogold labeling for electron microscopy using "LR White" resin
    • Timms BG: Postembedding immunogold labeling for electron microscopy using "LR White" resin. Am J Anat 175:267-275, 1986
    • (1986) Am J Anat , vol.175 , pp. 267-275
    • Timms, B.G.1
  • 22
    • 0034034757 scopus 로고    scopus 로고
    • NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
    • Boute N, Gribouval O, Roselli S, et al: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349-354, 2000
    • (2000) Nat Genet , vol.24 , pp. 349-354
    • Boute, N.1    Gribouval, O.2    Roselli, S.3
  • 23
    • 0035199469 scopus 로고    scopus 로고
    • Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis
    • Caridi G, Bertelli R, Carrea A, et al: Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 12:2742-2746, 2001
    • (2001) J Am Soc Nephrol , vol.12 , pp. 2742-2746
    • Caridi, G.1    Bertelli, R.2    Carrea, A.3
  • 24
    • 0027999246 scopus 로고
    • Differential localization of myosin-II isozymes in human cultured cells and blood cells
    • Maupin P, Phillips CL, Adelstein RS, Pollard TD: Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci 107:3077-3090, 1994
    • (1994) J Cell Sci , vol.107 , pp. 3077-3090
    • Maupin, P.1    Phillips, C.L.2    Adelstein, R.S.3    Pollard, T.D.4
  • 25
    • 0031711721 scopus 로고    scopus 로고
    • Cytoplasmic dynamics of myosin IIA and IIB: Spatial 'sorting' of isoforms in locomoting cells
    • Kolega J: Cytoplasmic dynamics of myosin IIA and IIB: Spatial 'sorting' of isoforms in locomoting cells. J Cell Sci 111:2085-2095, 1998
    • (1998) J Cell Sci , vol.111 , pp. 2085-2095
    • Kolega, J.1
  • 26
    • 0034677906 scopus 로고    scopus 로고
    • Myosins: A diverse superfamily
    • Sellers JR: Myosins: A diverse superfamily. Biochim Biophys Acta 1496:3-22, 2000
    • (2000) Biochim Biophys Acta , vol.1496 , pp. 3-22
    • Sellers, J.R.1
  • 28
    • 0035210324 scopus 로고    scopus 로고
    • Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD 2AP and nephrin
    • Schwarz K, Simons M, Reiser J, et al: Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 108:1621-1629, 2001
    • (2001) J Clin Invest , vol.108 , pp. 1621-1629
    • Schwarz, K.1    Simons, M.2    Reiser, J.3
  • 29
    • 0015323714 scopus 로고
    • The inclusions of the May-Hegglin anomaly and Döhle bodies of infection: An ultrastructural comparison
    • Cawley JC, Hayhoe FG: The inclusions of the May-Hegglin anomaly and Döhle bodies of infection: An ultrastructural comparison. Br J Haematol 22:491-496, 1972
    • (1972) Br J Haematol , vol.22 , pp. 491-496
    • Cawley, J.C.1    Hayhoe, F.G.2
  • 30
    • 0025008774 scopus 로고
    • Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes
    • Greinacher A, Mueller-Eckhardt C: Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. Blut 60:53-60, 1990
    • (1990) Blut , vol.60 , pp. 53-60
    • Greinacher, A.1    Mueller-Eckhardt, C.2
  • 31
    • 0024209817 scopus 로고
    • Ultrastructural organization of contractile and cytoskeletal proteins in glomerular podocytes of chicken, rat, and man
    • Drenckhahn D, Franke RP: Ultrastructural organization of contractile and cytoskeletal proteins in glomerular podocytes of chicken, rat, and man. Lab Invest 59:673-682, 1988
    • (1988) Lab Invest , vol.59 , pp. 673-682
    • Drenckhahn, D.1    Franke, R.P.2
  • 32
    • 0028120461 scopus 로고
    • Modulation of cytoskeletal organization of podocytes during the course of aminonucleoside nephrosis in rats
    • Kubosawa H, Kondo Y: Modulation of cytoskeletal organization of podocytes during the course of aminonucleoside nephrosis in rats. Pathol Int 44:578-586, 1994
    • (1994) Pathol Int , vol.44 , pp. 578-586
    • Kubosawa, H.1    Kondo, Y.2
  • 33
    • 0036138503 scopus 로고    scopus 로고
    • Expression of the nonmuscle heavy chain IIA in the human kidney and screening for MYH 9 mutations in Epstein and Fechtner syndromes
    • Arrondel C, Vodovar N, Knebelmann B, et al: Expression of the nonmuscle heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 13:65-74, 2002
    • (2002) J Am Soc Nephrol , vol.13 , pp. 65-74
    • Arrondel, C.1    Vodovar, N.2    Knebelmann, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.