20. Fischer J, Koch L, Emmerling C, Vierkotten J, Peters T, Brüning JC, Rüther U. Inactivation of the Fto gene protects from obesity. Nature. 2009 Apr 16;458 (7240):894-8.

21. Smemo S, Tena JJ, Kim KH, Gamazon ER, Sakabe NJ, Gômez-Marin C, Aneas I, Credidio FL, Sobreira DR, Wasserman NF, Lee JH, Puviindran V, Tam D, Shen M, Son JE, Vakili NA, Sung HK, Naranjo S, Acemel RD, Manzanares M, Nagy A, Cox NJ, Hui CC, Gomez-Skarmeta JL, Nôbrega MA. Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature. 2014 Mar 20;507( 7492):371-5.

22. Недавний обзор работ в этой сфере: Trent RJ, Cheong PL, Chua EW, Kennedy MA. Progressing the utilisation of pharmacogenetics and pharma-cogenomics into clinical care. Pathology. 2013 Jun; 45(4):357-70.

23. http://www.nhs.uk/Conditions/Herceptin/Pages/Introduction.aspx.

24. http://www.nature.com/scitable/topicpage/gleevec-the-break-through-in-cancer-treatment-565.

25. http://www.cancer.gov/cancertopics/druginfo/fda-crizotinib.

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.

3. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW. A single recurrent mutation in the 5'-UTR of 1FITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012 Aug 10;91(2):343-8.

4. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, BohlanderSK, Wollnik B, Netzer C. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012 Aug 10;91(2):349-57.

5. Moffatt P, Gaumond MH, Salois P, Sellin К, Bessette MC, Godin E, de Oliveira PT, Atkins GJ, Nanci A, Thomas G. Bril: a novel bone-specific modulator of mineralization.«/ Bone Miner Res. 2008 Sep: 23(9): 1497-508.

6. Liu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N, Hogg D. Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet. 1999 Jan; 21(1):128-32.

7. Tietze JK, Pfob M, Eggert M, von Preußen A, Mehraein Y, Ruzicka T, Herzinger T. A non-coding mutation in the 5' untranslated region of patched homologue 1 predisposes to basal cell carcinoma. Exp Dermatol. 2013 Dec; 22(12):834-5.

8. Полное описание см. в: http://omim.org/entry/309550.

9. Ashley CT Jr, Wilkinson KD, Reines D, Warren ST. FMR1 protein: conserved RNP family domains and selective RNA binding. Science. 1993 Oct 22;262(5133):563-6.

10. Qin M, Kang J, Burlin TV, Jiang C, Smith CB. Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse. J Neurosci. 2005 May 18;25(20):5087-95.

11. Azevedo FA, Carvalho LR, Grinberg LT, Farfel JM, Ferretti RE, Leite RE, Jacob Filho W, Lent R, Herculano-Houzel S. Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain. J Comp Neurol. 2009 Apr 10;513(5):532-41.

12. Drachman DA. Do we have brain to spare? Neurology. 2005 Jun 28;64(12):2004-5.

13. Darnell JC, Van DriescheSJ, ZhangC, Hung KY, Mele A, FraserCE, Stone EF, Chen C, Fak JJ, Chi SW, Licatalosi DD, Richter JD, Darnell RB. FMRP stalls ribosomal translocation on messenger RNAs linked to synaptic function and autism. Cell. 2011 Jul 22;146 (2):247-61.

14. Udagawa T, Farny NG, Jakovcevski M, Kaphzan H, Alarcon JM, Anilkumar S, Ivshina M, Hurt JA, Nagaoka K, Nalavadi VC, Lorenz LJ, Bassell GJ, Akbarian S, Chattarji S, Klann E, Richter JD. Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology. Nat Med. 2013 Nov; 19(11):1473-7.

15. Кратко изложено в: http://www.ncbi.nlm.nih.gov/books/NBK1165.

16. Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet. 2004 Dec 15;13(24):3079-88.

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.

18. HoTH, Charlet-BN, Poulos MG, Singh G, Swanson MS, Cooper ТА. Muscleblind proteins regulate alternative splicing. EMBO J. 2004 Aug 4;23(15):3103-12.

19. Kino Y, Washizu C, Oma Y, Onishi H, Nezu Y, Sasagawa N, Nukina N, Ishiura S. MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res. 2009 Oct; 37(19):6477-90.

20. Hanson EL, Jakobs PM, Keegan H,Coates K, BousmanS, Dienel NH, Litt M, Hershberger RE. Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. J Card Fail. 2002 Feb; 8(1):28-32.

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.

22. Полное описание синдрома см. в: http://ghr.nlm.nih.gov/ condition / immune-dysregulation-polyendocrinopathy-enteropa-thy-x-linked-syndrome.

23. Bennett CL, Brunkow ME, Ramsdell F, O’Briant КС, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-»AAUGAA) leads to the IPEX syndrome. Immunogenetics. 2001 Aug; 53(6):435-9.

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.