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SMN2
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SMN2 که برگرفته از عبارت «بقای سلول عصبی حرکتی ۲» (انگلیسی: Survival of motor neuron 2) است، نام یک ژن است که در انسان، پروتئین SMN را کد میکند.
با آنکه جهش در نسخهٔ تلومری ژن (یعنی SMN1) با بروز بیماری آتروفی عضلانی نخاعی در ارتباط است؛ اما جهش در SMN2 (نسخهٔ سانترومری آن) موجب بروز این بیماری نمیشود.
- مشارکتکنندگان ویکیپدیا. «SMN2». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۳ دسامبر ۲۰۱۷.
بیشتر بخوانید
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- Bose JK, Wang IF, Hung L, Tarn WY, Shen CK (October 2008). "TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing". The Journal of Biological Chemistry. 283 (43): 28852–9. doi:10.1074/jbc.M805376200. PMC 2661999. PMID 18703504.
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- Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C (January 2010). "SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR". European Journal of Human Genetics. 18 (1): 52–8. doi:10.1038/ejhg.2009.116. PMC 2987170. PMID 19603064.
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- Farooq F, Balabanian S, Liu X, Holcik M, MacKenzie A (November 2009). "p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR". Human Molecular Genetics. 18 (21): 4035–45. doi:10.1093/hmg/ddp352. PMID 19648294.
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- Martins de Araújo M, Bonnal S, Hastings ML, Krainer AR, Valcárcel J (April 2009). "Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP". RNA. 15 (4): 515–23. doi:10.1261/rna.1273209. PMC 2661831. PMID 19244360.
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- Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY (November 2008). "The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene". Molecular and Cellular Biology. 28 (22): 6929–38. doi:10.1128/MCB.01332-08. PMC 2573304. PMID 18794368.
- Cogulu O, Durmaz B, Pehlivan S, Alpman A, Ozkinay F (June 2009). "Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy". Genetic Testing and Molecular Biomarkers. 13 (3): 287–8. doi:10.1089/gtmb.2008.0139. PMID 19397406.