Art

J-GLOBAL ID：201402230506942044   Reference number：14A0468201

PLS3 expression and SMA phenotype: a commentary on correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

PLS3発現およびSMA表現型:脊髄性筋萎縮症の子供におけるPLS3発現と疾患重症度との関係に関するコメント

Author (1)： NISHIO Hisahide (Kobe Univ. Graduate School of Medicine, Kobe, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 59  Issue： 2  Page： 64-65  Publication year： Feb. 2014 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *movement disorder ,...
Semi thesaurus term： *Muscular Atrophy, Spinal ,...

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JST classification (3)： Basic neurology  (GN01020W) ,  Biological function  (EB03040U) ,  Blood tests(=hematologic tests)  (GC02050D)

Reference (8)：

• Nurputra, D. K., Lai, P. S., Harahap, N. I. F., Morikawa, S., Yamamoto, T. & Nishimura, N. Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials. Ann. Hum. Genet. 77, 435-463 (2013).
• Prior, T. W., Swoboda, K. J., Scott, H. D. & Hejmanowski, A. Q. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am. J. Med. Genet. 130 A, 307-310 (2004).
• Oprea, G. E., Kröber, S., McWhorter, M. L., Rossoll, W., Müller, S., Krawczak, M. et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320, 524-527 (2008).
• Stratigopoulos, G., Lanzano, P., Deng, L., Guo, J., Kaufmann, P., Darras, B. et al. Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch. Neurol. 67, 1252-1256 (2010).
• Cao, Y. Y., Qu, Y. J., Bai, J. L., Jin, Y. W., Wang, H. & Song, F. Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. J. Hum. Genet. 59, 24-27 (2014).

Terms in the title (7)： 発現 ,  SMA ,  表現型 ,  脊髄性筋萎縮症 ,  子供 ,  疾患重症度 ,  コメント