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1301por Temiz, Nuri A., Donohue, Duncan E., Bacolla, Albino, Vasquez, Karen M., Cooper, David N., Mudunuri, Uma, Ivanic, Joseph, Cer, Regina Z., Yi, Ming, Stephens, Robert M., Collins, Jack R., Luke, Brian T.“…DNA damage in somatic cells originates from both environmental and endogenous sources, giving rise to mutations through multiple mechanisms. When these mutations affect the function of critical genes, cancer may ensue. …”
Publicado 2015
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1302por Goodeve, A. C.“…Inhibitors also occur in patients with nonsense mutations, occasionally in patients with small insertions/deletions or splice mutations, and rarely in patients with missense mutations (p.Gln237Lys and p.Gln241His). …”
Publicado 2015
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1303“…Moreover, the term mutation should be accompanied by a qualifying prefix indicating whether the mutation occurs only in somatic cells (somatic mutation) or also in the germline (germline mutation). …”
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1304por Cruz-Bermúdez, Alberto, Vallejo, Carmen G., Vicente-Blanco, Ramiro J., Gallardo, María Esther, Fernández-Moreno, Miguel Ángel, Quintanilla, Miguel, Garesse, Rafael“…These include the severe mutation in the tRNA(Lys) gene, m.8363G>A, and the three milder yet prevalent Leber's hereditary optic neuropathy (LHON) mutations in the MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A) and MT-ND6 (m.14484T>C) mitochondrial genes. …”
Publicado 2015
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1305por Fu, Jason L., Kanno, Tatsuo, Liang, Shih-Chieh, Matzke, Antonius J. M., Matzke, Marjori“…Here we report a collection of ethyl methansulfonate–induced GFP loss-of-function mutations in the model plant Arabidopsis thaliana. …”
Publicado 2015
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1307por Marston, Steven, Montgiraud, Cecile, Munster, Alex B., Copeland, O’Neal, Choi, Onjee, dos Remedios, Cristobal, Messer, Andrew E., Ehler, Elisabeth, Knöll, Ralph“…BACKGROUND: Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. …”
Publicado 2015
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1308“…We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation). …”
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1310
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1311“…CONCLUSION: This type of mutation is the first report of triple mutations in FMF patients with no specific phenotype correlation.…”
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1313“…High-throughput genomic technologies have made the identification of genetic mutations that promote lung cancer progression possible. …”
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1314“…Aging is associated with an increased risk of cancer, possibly in part because of an age-related increase in mutations in normal tissues. Due to their extremely low abundance, somatic mutations in normal tissues frequently escape detection. …”
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1315“…We introduce a model that relates the source of mutations to their accumulation with cell divisions, providing a framework for understanding how mutation rates depend on sex, age, and cell division rate. …”
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1316por Rahbari, Raheleh, Wuster, Arthur, Lindsay, Sarah J., Hardwick, Robert J., Alexandrov, Ludmil B., Turki, Saeed Al, Dominiczak, Anna, Morris, Andrew, Porteous, David, Smith, Blair, Stratton, Michael R., Hurles, Matthew E.“…Germline mutations are a driving force behind genome evolution and genetic disease. …”
Publicado 2015
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1318por Lin, Elaine I., Tseng, Li-Hui, Gocke, Christopher D., Reil, Stacy, Le, Dung T., Azad, Nilofer S., Eshleman, James R.“…Overall, MSI-H CRCs showed significantly higher mutations than MSS CRCs, including insertion/deletion mutations at repeat regions. …”
Publicado 2015
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1319por Millichap, J. Gordon“…Investigators from the Institute of Neurology, London, UK, and centers in Italy, Germany, and Greece, studied 18 unrelated cases of benign hereditary chorea BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations.…”
Publicado 2015
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1320por Mathew, Juby, Jagadeesh, Sujatha M., Bhat, Meenakshi, Udhaya Kumar, S., Thiyagarajan, Saravanamuthu, Srinivasan, Sudha“…One mutation, p.W450C, was present in two families, and the other six mutations were present in one family each. …”
Publicado 2015
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