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2341por Al-Naamani, Aisha, Al-Waily, Ahmed, Al-Kindi, Mohammed, Al-Awadi, Maha, Al-Yahyaee, Said Ali“…TGM1 was analyzed by direct sequencing for disease-associated mutations. RESULTS: Two known pathogenic mutations in TGM1 were detected: p. …”
Publicado 2013
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2342“…Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical determinants of neurological diseases, especially motor neuron disorders such as amyotrophic lateral sclerosis (ALS). …”
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2343por Sazonova, Margarita A., Sinyov, Vasily V., Ryzhkova, Anastasia I., Galitsyna, Elena V., Khasanova, Zukhra B., Postnov, Anton Yu, Yarygina, Elena I., Orekhov, Alexander N., Sobenin, Igor A.“…Mutations of mtDNA, due to their higher frequency of occurrence compared to nuclear DNA mutations, are the most promising biomarkers for assessing predisposition of the occurrence and development of atherogenesis. …”
Publicado 2017
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2344
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2345“…We find that long-term outcomes, including community collapse, diversity, and cycling, have characteristic evolutionary dynamics that determine the entropy, or repeatability, of mutational paths. Although reliable prediction of evolutionary outcomes from environmental conditions is difficult, graph-theoretic properties of the mutational networks enable accurate prediction even from incomplete observations. …”
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2346por Bosshard, Lars, Dupanloup, Isabelle, Tenaillon, Olivier, Bruggmann, Rémy, Ackermann, Martin, Peischl, Stephan, Excoffier, Laurent“…In agreement with theory, we find that growth abilities of strains with a high mutation rate (HMR lines) decreased significantly over time, unlike strains with a lower mutation rate (LMR lines) that present three to four times fewer mutations. …”
Publicado 2017
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2348“…BACKGROUND: Somatic mutations accumulate in human cells throughout life. …”
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2349por Vázquez-García, Ignacio, Salinas, Francisco, Li, Jing, Fischer, Andrej, Barré, Benjamin, Hallin, Johan, Bergström, Anders, Alonso-Perez, Elisa, Warringer, Jonas, Mustonen, Ville, Liti, Gianni“…Finally, we decompose the fitness contributions of pre-existing and de novo mutations by creating a large recombinant library of adaptive mutations in an ensemble of genetic backgrounds. …”
Publicado 2017
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2350por Feigin, Michael E., Garvin, Tyler, Bailey, Peter, Waddell, Nicola, Chang, David K., Kelley, David R., Shuai, Shimin, Gallinger, Steven, McPherson, John D., Grimmond, Sean M., Khurana, Ekta, Stein, Lincoln D., Biankin, Andrew V., Schatz, Michael C., Tuveson, David A.“…The contributions of coding mutations to tumorigenesis are relatively well known; however, little is known about somatic alterations in noncoding DNA. …”
Publicado 2017
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2351“…However, this hypothesis is based upon the study of markers of the DNA damage response, rather than measurement of DNA damage per se or the consequences of unrepaired DNA damage—mutation. Here, using a mutation reporter cell line, we directly compared the inherent and induced mutation rates in cells expressing wild-type lamin A or progerin. …”
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2353“…Cancer is caused by the accumulation of multiple genetic mutations, but their cooperative effects are poorly understood. …”
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2354por Shibai, Atsushi, Takahashi, Yusuke, Ishizawa, Yuka, Motooka, Daisuke, Nakamura, Shota, Ying, Bei-Wen, Tsuru, Saburo“…The spectrum of the UV-induced mutations was broader than that of the spontaneous mutations in the mutator. …”
Publicado 2017
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2355“…Primary aldosteronism, a condition in which too much aldosterone is produced and that leads to hypertension, is often initiated by an aldosterone-producing adenoma within the zona glomerulosa of the adrenal cortex. Somatic mutations of ATP1A1, encoding the Na/K pump α1 subunit, have been found in these adenomas. …”
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2356“…Ataxia-telangiectasia mutated kinase (ATM) is a serine/threonine kinase. …”
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2357por de Calais, Flavia Leme, Smith, Lindsay D., Raponi, Michela, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Baralle, Diana“…Minigenes were used to validate the functional effect of mutations in both genes. We evaluated the c.277 + 2 T > G mutation in HSD17B3, and the c.544 G > A, c.548-44 T > G and c.278delG mutations in SRD5A2. …”
Publicado 2017
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