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ReklamaCostly Genes
Autoři: Maria Karayiorgou aff001
Působiště autorů: Columbia University, Department of Psychiatry, New York, New York, United States of America aff001
Vyšlo v časopise: Costly Genes. PLoS Genet 16(8): e32767. doi:10.1371/journal.pgen.1008889
Kategorie: Opinion Piece
doi: https://doi.org/10.1371/journal.pgen.1008889
Zdroje
1. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50(3):509–17. doi: 10.1016/0092-8674(87)90504-6 3607877
2. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM, et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988; 332(6161):268–9. doi: 10.1038/332268a0 2894613
3. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993;4(3):221–6. doi: 10.1038/ng0793-221 8358429
4. The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993;72(6):971–83. doi: 10.1016/0092-8674(93)90585-e 8458085
5. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066–73. Erratum in: Science 1989;245(4925):1437. doi: 10.1126/science.2475911 2475911
6. Cutting G. R. Cystic fibrosis. In: Rimoin D. L.; Connor J. M.; Pyeritz R. E.; Korf B. R. (eds.): Emery and Rimoin's Principles and Practice of Medical Genetics. Vol. 2. (4th ed.) New York: Churhill Livingstone 2002;1561–1606.
7. Middleton PG, Mall MA, Dřevínek P, Lands LC, McKone EF, Polineni D, et al. Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele. N Engl J Med. 2019;381(19):1809–1819. doi: 10.1056/NEJMoa1908639 31697873
8. Bear CE. A Therapy for Most with Cystic Fibrosis. Cell. 2020;180(2):211. doi: 10.1016/j.cell.2019.12.032 31978337
9. Graul AI, Pina P, Tracy M, Sorbera L. The year's new drugs and biologics 2019. Drugs Today (Barc). 2020;56(1):47–103.
Článek Phospho-regulation of the Shugoshin - Condensin interaction at the centromere in budding yeastČlánek A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer proteinČlánek A human-specific VNTR in the TRIB3 promoter causes gene expression variation between individualsČlánek Drosophila Myc restores immune homeostasis of Imd pathway via activating miR-277 to inhibit imd/Tab2
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