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Глава 15
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Глава 16
1. Примеры таких случаев можно найти в: http://medicalmisdiagnosisresearch.wordpress.com/category/osteogeiiesis-imperfecta-misdiag-nosed-as-child-abuse.
2. Хорошее описание симптомов и генетики этого заболевания см. в: http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta.
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15. Кратко изложено в: http://www.ncbi.nlm.nih.gov/books/NBK1165.
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17. Savkur RS, Philips AV, Cooper ТА. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001 Sep; 29(1):40-7.
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21. Цит. no: Michalova E, Vojtesek B, Hrstka R. Impaired pre-messenger RNA processing and altered architecture of 3' untranslated regions contribute to the development of human disorders. Int J Mol Sci. 2013 Jul 26; 14(8): 15681-94.
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24. Подробнее см. в: http://www.alsa.org.
25. Базу данных генов, которые, как полагают, играют какую-то роль в развитии БАС, можно найти здесь: http://alsod.iop.kcl.ac.uk.
26. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosier BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophie lateral sclerosis. Science. 2009 Feb 27;323(5918):1205-8.
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28. Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F; ITALSGEN Consortium, Mora G, Restagno G, Chiô A, Traynor BJ. FUS mutations in sporadic amyotrophie lateral sclerosis. Neurobiol Aging. 2011 Mar; 32(3):550.el-4.
29. Sabatelli M, Moncada A, Conte A, battante S, Marangi G, Luigetti M, Lucchini M, Mirabelle M, Romano A, Del Grande A, Bisogni G, Doronzio PN, Rossini PM, Zollino M. Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis. Hum Moi Genet. 2013 Dec 1;22(23):4748-55.
Глава 17
1. Johnson JM, Castle J, Garrett-Engele P, Kan Z, Loerch PM, Armour CD, Santos R, Schadt EE, Stoughton R, Shoemaker DD. Genomewide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science. 2003 Dec 19;302(5653):2141-4.
2. Цит. no: Keren H, Lev-Maor G, Ast G. Alternative splicing and evolution: diversification, exon definition and function. Nat Rev Genet. 2010 May; 11(5):345-55.
3. Эти стадии очень четко описаны в ряде обзоров. Напр.: WangGS, Cooper ТА. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007 Oct; 8(10):749-61.
