메뉴 건너뛰기




Volumn 80, Issue 4, 2009, Pages 426-428

Filamin a mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A; ACTIN BINDING PROTEIN; CONTRACTILE PROTEIN; DNA; FILAMINS;

EID: 64749105804     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.149419     Document Type: Article
Times cited : (40)

References (14)
  • 1
    • 0036938317 scopus 로고    scopus 로고
    • Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: Widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex
    • Kakita A, Hayashi S, Moro F, et al. Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. Acta Neuropathol (Berl) 2002;104:649-57.
    • (2002) Acta Neuropathol (Berl) , vol.104 , pp. 649-657
    • Kakita, A.1    Hayashi, S.2    Moro, F.3
  • 2
    • 0032422555 scopus 로고    scopus 로고
    • Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
    • Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998;21:1315-25.
    • (1998) Neuron , vol.21 , pp. 1315-1325
    • Fox, J.W.1    Lamperti, E.D.2    Eksioglu, Y.Z.3
  • 3
    • 0035880455 scopus 로고    scopus 로고
    • Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
    • Sheen VL, Dixon PH, Fox JW, et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 2001;10:1775-83.
    • (2001) Hum Mol Genet , vol.10 , pp. 1775-1783
    • Sheen, V.L.1    Dixon, P.H.2    Fox, J.W.3
  • 4
    • 33745685474 scopus 로고    scopus 로고
    • Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations
    • Parrini E, Ramazzotti A, Dobyns WB, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain 2006;129:1892-906.
    • (2006) Brain , vol.129 , pp. 1892-1906
    • Parrini, E.1    Ramazzotti, A.2    Dobyns, W.B.3
  • 5
    • 3242705773 scopus 로고    scopus 로고
    • Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
    • Guerrini R, Mei D, Sisodiya S, et al. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology 2004;63:51-6.
    • (2004) Neurology , vol.63 , pp. 51-56
    • Guerrini, R.1    Mei, D.2    Sisodiya, S.3
  • 6
    • 5444254343 scopus 로고    scopus 로고
    • Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia
    • Parrini E, Mei D, Wright M, et al. Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. Neurogenetics 2004;5:191-6.
    • (2004) Neurogenetics , vol.5 , pp. 191-196
    • Parrini, E.1    Mei, D.2    Wright, M.3
  • 7
    • 19944432730 scopus 로고    scopus 로고
    • Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
    • Sheen VL, Jansen A, Chen MH, et al. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology 2005;64:254-62.
    • (2005) Neurology , vol.64 , pp. 254-262
    • Sheen, V.L.1    Jansen, A.2    Chen, M.H.3
  • 8
    • 33645120528 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation
    • Gomez-Garre P, Seijo M, Gutiérrez-Delicado E, et al. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. J Med Genet 2006;43:232-7.
    • (2006) J Med Genet , vol.43 , pp. 232-237
    • Gomez-Garre, P.1    Seijo, M.2    Gutiérrez-Delicado, E.3
  • 9
    • 33846035657 scopus 로고    scopus 로고
    • Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy
    • Kyndt F, Gueffet JP, Probst V, et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007;115:40-9.
    • (2007) Circulation , vol.115 , pp. 40-49
    • Kyndt, F.1    Gueffet, J.P.2    Probst, V.3
  • 10
    • 33746617484 scopus 로고    scopus 로고
    • Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity
    • Robertson SP, Jenkins ZA, Morgan T, et al. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A 2006;140:1726-36.
    • (2006) Am J Med Genet A , vol.140 , pp. 1726-1736
    • Robertson, S.P.1    Jenkins, Z.A.2    Morgan, T.3
  • 11
    • 0026543374 scopus 로고
    • Actin-binding protein requirement for cortical stability and efficient locomotion
    • Cunningham CC, Gorlin JB, Kwiatkowski DJ, et al. Actin-binding protein requirement for cortical stability and efficient locomotion. Science 1992;255:325-7.
    • (1992) Science , vol.255 , pp. 325-327
    • Cunningham, C.C.1    Gorlin, J.B.2    Kwiatkowski, D.J.3
  • 12
    • 40949119063 scopus 로고    scopus 로고
    • Binding of the P2Y2 nucleotide receptor to filamin A regulates migration of vascular smooth muscle cells
    • Yu N, Erb L, Shivaji R, et al. Binding of the P2Y2 nucleotide receptor to filamin A regulates migration of vascular smooth muscle cells. Circ Res 2008;102:581-8.
    • (2008) Circ Res , vol.102 , pp. 581-588
    • Yu, N.1    Erb, L.2    Shivaji, R.3
  • 13
    • 33845959978 scopus 로고    scopus 로고
    • Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis
    • Feng Y, Chen MH, Moskowitz IP, et al. Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A 2006;103:19836-41.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 19836-19841
    • Feng, Y.1    Chen, M.H.2    Moskowitz, I.P.3
  • 14
    • 33747887709 scopus 로고    scopus 로고
    • Cardiac malformations and midline skeletal defects in mice lacking filamin A
    • Hart AW, Morgan JE, Schneider J, et al. Cardiac malformations and midline skeletal defects in mice lacking filamin A. Hum Mol Genet 2006;15:2457-67.
    • (2006) Hum Mol Genet , vol.15 , pp. 2457-2467
    • Hart, A.W.1    Morgan, J.E.2    Schneider, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.