메뉴 건너뛰기




Volumn 61, Issue 8, 2003, Pages 1042-1046

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0344033815     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.61.8.1042     Document Type: Article
Times cited : (110)

References (30)
  • 1
    • 0002977846 scopus 로고    scopus 로고
    • Gray matter heterotopia
    • Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Philadelphia: Lippincott-Raven
    • Harding B. Gray matter heterotopia. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia: Lippincott-Raven, 1996:81-88.
    • (1996) Dysplasias of Cerebral Cortex and Epilepsy , pp. 81-88
    • Harding, B.1
  • 2
    • 0028024069 scopus 로고
    • Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters
    • Barkovich AJ, Guerrini R, Battaglia G, et al. Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 1994;36:609-617.
    • (1994) Ann Neurol , vol.36 , pp. 609-617
    • Barkovich, A.J.1    Guerrini, R.2    Battaglia, G.3
  • 3
    • 10144257864 scopus 로고    scopus 로고
    • X-linked malformations of neuronal migration
    • Dobyns WB, Andermann E, Andermann F, et al. X-linked malformations of neuronal migration. Neurology 1996;47:331-339.
    • (1996) Neurology , vol.47 , pp. 331-339
    • Dobyns, W.B.1    Andermann, E.2    Andermann, F.3
  • 4
    • 0036845824 scopus 로고    scopus 로고
    • Subcortical band heterotopia (SBH) in males: Clinical, imaging and genetic findings in comparison with females
    • D'Agostino MD, Bernasconi A, Das S, et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 2002;125:2507-2522.
    • (2002) Brain , vol.125 , pp. 2507-2522
    • D'Agostino, M.D.1    Bernasconi, A.2    Das, S.3
  • 5
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • Gleeson JG, Allen KM, Fox JW, et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63-72.
    • (1998) Cell , vol.92 , pp. 63-72
    • Gleeson, J.G.1    Allen, K.M.2    Fox, J.W.3
  • 6
    • 17444444915 scopus 로고    scopus 로고
    • Identification of a novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    • Des Portes V, Pinard JM, Billuart P, et al. Identification of a novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998;92:51-61.
    • (1998) Cell , vol.92 , pp. 51-61
    • Des Portes, V.1    Pinard, J.M.2    Billuart, P.3
  • 7
    • 0033967577 scopus 로고    scopus 로고
    • Genetic and neuroradiological heterogeneity of double cortex syndrome
    • Gleeson JG, Luo RF, Grant PE, et al. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 2000;47:265-269.
    • (2000) Ann Neurol , vol.47 , pp. 265-269
    • Gleeson, J.G.1    Luo, R.F.2    Grant, P.E.3
  • 8
    • 0035145745 scopus 로고    scopus 로고
    • Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
    • Matsumoto N, Leventer RJ, Kuc JA, et al. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 2001;9:5-12.
    • (2001) Eur J Hum Genet , vol.9 , pp. 5-12
    • Matsumoto, N.1    Leventer, R.J.2    Kuc, J.A.3
  • 9
    • 0027486966 scopus 로고
    • Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
    • Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993;270:2838-2842.
    • (1993) JAMA , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3    Ledbetter, D.H.4
  • 10
    • 0344423821 scopus 로고    scopus 로고
    • Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
    • Pilz DT, Kuc J, Matsumoto N, et al. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet 1999;8:1757-1760.
    • (1999) Hum Mol Genet , vol.8 , pp. 1757-1760
    • Pilz, D.T.1    Kuc, J.2    Matsumoto, N.3
  • 12
    • 0032520681 scopus 로고    scopus 로고
    • Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
    • Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 1998;26: 1396-1400.
    • (1998) Nucleic Acids Res , vol.26 , pp. 1396-1400
    • Liu, W.1    Smith, D.I.2    Rechtzigel, K.J.3    Thibodeau, S.N.4    James, C.D.5
  • 13
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001;17:439-474.
    • (2001) Hum Mutat , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2
  • 14
    • 0012673916 scopus 로고
    • Snijders-Oomen non-verbal intelligence test. SON-R 5.5-17
    • Groningen: Wolters-Noordhoff
    • Snijders JT, Tellegen PJ, Laros JA. Snijders-Oomen non-verbal intelligence test. SON-R 5.5-17. Manual and research report. Groningen: Wolters-Noordhoff, 1989.
    • (1989) Manual and Research Report
    • Snijders, J.T.1    Tellegen, P.J.2    Laros, J.A.3
  • 16
    • 0033595252 scopus 로고    scopus 로고
    • Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
    • Dobyns WB, Truwit CL, Ross ME, et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53:270-277.
    • (1999) Neurology , vol.53 , pp. 270-277
    • Dobyns, W.B.1    Truwit, C.L.2    Ross, M.E.3
  • 17
    • 7844223263 scopus 로고    scopus 로고
    • LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
    • Pilz DT, Matsumoto N, Minnerath S, et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998;7:2029-2037.
    • (1998) Hum Mol Genet , vol.7 , pp. 2029-2037
    • Pilz, D.T.1    Matsumoto, N.2    Minnerath, S.3
  • 18
    • 0036135783 scopus 로고    scopus 로고
    • Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)
    • Cardoso C, Leventer RJ, Dowling JJ, et al. Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum Mutat 2002;19:4-15.
    • (2002) Hum Mutat , vol.19 , pp. 4-15
    • Cardoso, C.1    Leventer, R.J.2    Dowling, J.J.3
  • 19
    • 0034642292 scopus 로고    scopus 로고
    • The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
    • Cardoso C, Leventer RJ, Matsumoto N, et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 2000;9: 3019-3028.
    • (2000) Hum Mol Genet , vol.9 , pp. 3019-3028
    • Cardoso, C.1    Leventer, R.J.2    Matsumoto, N.3
  • 20
    • 0035859769 scopus 로고    scopus 로고
    • LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
    • Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology 2001;57:416-422.
    • (2001) Neurology , vol.57 , pp. 416-422
    • Leventer, R.J.1    Cardoso, C.2    Ledbetter, D.H.3    Dobyns, W.B.4
  • 21
    • 0027176708 scopus 로고
    • Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
    • Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364:717-721.
    • (1993) Nature , vol.364 , pp. 717-721
    • Reiner, O.1    Carrozzo, R.2    Shen, Y.3
  • 22
    • 0030695246 scopus 로고    scopus 로고
    • Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit
    • Sapir T, Elbaum M, Reiner O. Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit. EMBO J 1997;16:6977-6984.
    • (1997) EMBO J , vol.16 , pp. 6977-6984
    • Sapir, T.1    Elbaum, M.2    Reiner, O.3
  • 23
    • 0034176845 scopus 로고    scopus 로고
    • Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development
    • Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev 2000;92:263-271.
    • (2000) Mech Dev , vol.92 , pp. 263-271
    • Sweeney, K.J.1    Clark, G.D.2    Prokscha, A.3    Dobyns, W.B.4    Eichele, G.5
  • 24
    • 0030583283 scopus 로고    scopus 로고
    • The pleckstrin homology domain of human beta I sigma II spectrin is targeted to the plasma membrane in vivo
    • Wang DS, Miller R, Shaw R, Shaw G. The pleckstrin homology domain of human beta I sigma II spectrin is targeted to the plasma membrane in vivo. Biochem Biophys Res Commun 1996;225:420-426.
    • (1996) Biochem Biophys Res Commun , vol.225 , pp. 420-426
    • Wang, D.S.1    Miller, R.2    Shaw, R.3    Shaw, G.4
  • 26
    • 0034795551 scopus 로고    scopus 로고
    • Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
    • Kato M, Kanai M, Soma O, et al. Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis. Ann Neurol 2001;50:547-551.
    • (2001) Ann Neurol , vol.50 , pp. 547-551
    • Kato, M.1    Kanai, M.2    Soma, O.3
  • 27
    • 0033842461 scopus 로고    scopus 로고
    • Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
    • Gleeson JG, Minnerath S, Kuzniecky RI, et al. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 2000;67:574-581.
    • (2000) Am J Hum Genet , vol.67 , pp. 574-581
    • Gleeson, J.G.1    Minnerath, S.2    Kuzniecky, R.I.3
  • 28
    • 0037469224 scopus 로고    scopus 로고
    • Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders
    • Aigner L, Uyanik G, Couillard-Despres S, et al. Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. Neurology 2003;60:329-332.
    • (2003) Neurology , vol.60 , pp. 329-332
    • Aigner, L.1    Uyanik, G.2    Couillard-Despres, S.3
  • 29
    • 0035114679 scopus 로고    scopus 로고
    • Low level mosaicism detectable by DHPLC but not by direct sequencing
    • Jones AC, Sampson JR, Cheadle JP. Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat 2001;17:233-234.
    • (2001) Hum Mutat , vol.17 , pp. 233-234
    • Jones, A.C.1    Sampson, J.R.2    Cheadle, J.P.3
  • 30
    • 0037262226 scopus 로고    scopus 로고
    • Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes
    • Emmerson P, Maynard J, Jones S, Butler R, Sampson JR, Cheadle JP. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat 2003;21:112-115.
    • (2003) Hum Mutat , vol.21 , pp. 112-115
    • Emmerson, P.1    Maynard, J.2    Jones, S.3    Butler, R.4    Sampson, J.R.5    Cheadle, J.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.