메뉴 건너뛰기




Volumn 24, Issue 1, 2014, Pages 25-30

SHC2 gene copy number in multiple system atrophy (MSA)

Author keywords

Copy number variation; Genetics; Movement disorders, SHC2; Multiple system atrophy

Indexed keywords

AGED; FEMALE; GENE DELETION; GENE DOSAGE; HUMANS; MALE; MIDDLE AGED; MULTIPLE SYSTEM ATROPHY; SHC SIGNALING ADAPTOR PROTEINS; UNITED STATES;

EID: 84894264768     PISSN: 09599851     EISSN: 16191560     Source Type: Journal    
DOI: 10.1007/s10286-013-0216-8     Document Type: Article
Times cited : (26)

References (25)
  • 1
    • 84859512085 scopus 로고    scopus 로고
    • Genetic association studies of copy-number variation: Should assignment of copy number states precede testing?
    • 1:CAS:528:DC%2BC38XlvFeksb4%3D 10.1371/journal.pone.0034262 3320903 22493684
    • Breheny P, Chalise P, Batzler A, Wang L, Fridley BL (2012) Genetic association studies of copy-number variation: should assignment of copy number states precede testing? PLoS ONE 7:e34262
    • (2012) PLoS ONE , vol.7 , pp. 34262
    • Breheny, P.1    Chalise, P.2    Batzler, A.3    Wang, L.4    Fridley, B.L.5
  • 2
    • 77953534409 scopus 로고    scopus 로고
    • Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder
    • 10.1097/MCD.0b013e32833a1e3c 20453639
    • Clayton-Smith J, Giblin C, Smith RA, Dunn C, Willatt L (2010) Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder. Clin Dysmorphol 19:128-132
    • (2010) Clin Dysmorphol , vol.19 , pp. 128-132
    • Clayton-Smith, J.1    Giblin, C.2    Smith, R.A.3    Dunn, C.4    Willatt, L.5
  • 3
    • 1342347397 scopus 로고    scopus 로고
    • Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy
    • 10.1002/mds.10540 14639688
    • Combarros O, Infante J, Llorca J, Berciano J (2003) Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy. Mov Disord 18:1385-1386
    • (2003) Mov Disord , vol.18 , pp. 1385-1386
    • Combarros, O.1    Infante, J.2    Llorca, J.3    Berciano, J.4
  • 4
    • 23744514315 scopus 로고    scopus 로고
    • Alpha-1-Antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA)
    • 1:CAS:528:DC%2BD2MXns1Wjsro%3D 10.1016/j.molbrainres.2005.04.011 15907346
    • Furiya Y, Hirano M, Kurumatani N, Nakamuro T, Matsumura R, Futamura N, Ueno S (2005) Alpha-1-Antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA). Mol Brain Res 138:178-181
    • (2005) Mol Brain Res , vol.138 , pp. 178-181
    • Furiya, Y.1    Hirano, M.2    Kurumatani, N.3    Nakamuro, T.4    Matsumura, R.5    Futamura, N.6    Ueno, S.7
  • 6
    • 78650808443 scopus 로고    scopus 로고
    • Phenotypic variability and genetic susceptibility to genomic disorders
    • 1:CAS:528:DC%2BC3cXhsFSnsrfI 10.1093/hmg/ddq366 20807775
    • Girirajan S, Eichler EE (2010) Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-R187
    • (2010) Hum Mol Genet , vol.19
    • Girirajan, S.1    Eichler, E.E.2
  • 8
    • 10644256410 scopus 로고    scopus 로고
    • Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy
    • 1:CAS:528:DC%2BD2cXhtVOnur3I 10.1016/j.jns.2004.09.023 15607204
    • Infante J, Llorca J, Berciano J, Combarros O (2005) Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy. J Neurol Sci 228:11-13
    • (2005) J Neurol Sci , vol.228 , pp. 11-13
    • Infante, J.1    Llorca, J.2    Berciano, J.3    Combarros, O.4
  • 12
    • 12344255081 scopus 로고    scopus 로고
    • Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy
    • 1:CAS:528:DC%2BD2MXkvFKktw%3D%3D 10.1016/j.neulet.2004.10.056 15663966
    • Nishimura M, Kuno S, Kaji R, Kawakami H (2005) Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy. Neurosci Lett 374:218-221
    • (2005) Neurosci Lett , vol.374 , pp. 218-221
    • Nishimura, M.1    Kuno, S.2    Kaji, R.3    Kawakami, H.4
  • 13
    • 33749676438 scopus 로고    scopus 로고
    • Pathology and genetics of multiple system atrophy: An approach to determining genetic susceptibility spectrum
    • 1:CAS:528:DC%2BD28XhtVOmu73I 10.1007/s00401-006-0109-1 16855831
    • Ozawa T (2006) Pathology and genetics of multiple system atrophy: an approach to determining genetic susceptibility spectrum. Acta Neuropathol 112:531-538
    • (2006) Acta Neuropathol , vol.112 , pp. 531-538
    • Ozawa, T.1
  • 14
    • 0024843373 scopus 로고
    • Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome)
    • 1:STN:280:DyaK3c7jt1OrtA%3D%3D 10.1016/0022-510X(89)90219-0 2559165
    • Papp MI, Kahn JE, Lantos PL (1989) Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome). J Neurol Sci 94:79-100
    • (1989) J Neurol Sci , vol.94 , pp. 79-100
    • Papp, M.I.1    Kahn, J.E.2    Lantos, P.L.3
  • 17
    • 79958118184 scopus 로고    scopus 로고
    • Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: Discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
    • 10.1186/1756-6606-4-24 3141657 21658278
    • Sasaki H, Emi M, Iijima H, Ito N, Sato H, Yabe I, Kato T, Utsumi J, Matsubara K (2011) Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. Mol Brain 4:24
    • (2011) Mol Brain , vol.4 , pp. 24
    • Sasaki, H.1    Emi, M.2    Iijima, H.3    Ito, N.4    Sato, H.5    Yabe, I.6    Kato, T.7    Utsumi, J.8    Matsubara, K.9
  • 20
    • 52649084153 scopus 로고    scopus 로고
    • Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 Genes
    • 10.1002/mds.22046 18442140
    • Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H (2008) Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 Genes. Mov Disord 23:1161-1167
    • (2008) Mov Disord , vol.23 , pp. 1161-1167
    • Soma, H.1    Yabe, I.2    Takei, A.3    Fujiki, N.4    Yanagihara, T.5    Sasaki, H.6
  • 21
    • 80051569267 scopus 로고    scopus 로고
    • Genetic players in multiple system atrophy: Unfolding the nature of the beast
    • 10.1016/j.neurobiolaging.2011.04.001
    • Stemberger S, Scholz SW, Singleton AB, Wenning GK (2011) Genetic players in multiple system atrophy: unfolding the nature of the beast. Neurobiol Aging 32:1924.e5-1924.e14
    • (2011) Neurobiol Aging , vol.32
    • Stemberger, S.1    Scholz, S.W.2    Singleton, A.B.3    Wenning, G.K.4
  • 22
    • 0032546895 scopus 로고    scopus 로고
    • Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy
    • 1:CAS:528:DyaK1cXjvVWisLg%3D 10.1016/S0304-3940(98)00407-8 9682846
    • Wakabayashi K, Yoshimoto M, Tsuji S, Takahashi H (1998) Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy. Neurosci Lett 249:180-182
    • (1998) Neurosci Lett , vol.249 , pp. 180-182
    • Wakabayashi, K.1    Yoshimoto, M.2    Tsuji, S.3    Takahashi, H.4
  • 24
    • 77957907029 scopus 로고    scopus 로고
    • Neurogenetics: Advancing the "next-Generation" of brain research
    • 1:CAS:528:DC%2BC3cXhtlSmsbfE 10.1016/j.neuron.2010.10.015 2982747 20955921
    • Zoghbi HY, Warren ST (2010) Neurogenetics: advancing the "Next-Generation" of brain research. Neuron 68:165-173
    • (2010) Neuron , vol.68 , pp. 165-173
    • Zoghbi, H.Y.1    Warren, S.T.2
  • 25
    • 84880440278 scopus 로고    scopus 로고
    • Mutations in COQ2 in familial multiple system atrophy
    • The Multiple-System Atropohy Research Collaboration 10.1056/NEJMoa1212115
    • The Multiple-System Atropohy Research Collaboration (2013) Mutations in COQ2 in familial multiple system atrophy. N Engl J Med 369:233-244
    • (2013) N Engl J Med , vol.369 , pp. 233-244


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.