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1321por Taghdiri, Foad, Sato, Christine, Ghani, Mahdi, Moreno, Danielle, Rogaeva, Ekaterina, Tartaglia, Maria Carmela“…Loss-of-function GRN mutations lead to GRN haploinsufficiency and consequently neurodegeneration with significant heterogeneity in clinical presentation of various syndromes. …”
Publicado 2016
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1322por Landau, Dan A., Tausch, Eugen, Taylor-Weiner, Amaro N, Stewart, Chip, Reiter, Johannes G., Bahlo, Jasmin, Kluth, Sandra, Bozic, Ivana, Lawrence, Mike, Böttcher, Sebastian, Carter, Scott L., Cibulskis, Kristian, Mertens, Daniel, Sougnez, Carrie, Rosenberg, Mara, Hess, Julian M., Edelmann, Jennifer, Kless, Sabrina, Kneba, Michael, Ritgen, Matthias, Fink, Anna, Fischer, Kirsten, Gabriel, Stacey, Lander, Eric, Nowak, Martin A., Döhner, Hartmut, Hallek, Michael, Neuberg, Donna, Getz, Gad, Stilgenbauer, Stephan, Wu, Catherine J.“…We identify 44 recurrently mutated genes and 11 recurrent somatic copy number variations through whole-exome sequencing of 538 chronic lymphocytic leukemia (CLL) and matched germline DNA samples, 278 of which were collected in a prospective clinical trial. …”
Publicado 2015
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1323por Jo, Peter, König, Alexander, Schirmer, Markus, Kitz, Julia, Conradi, Lena-Christin, Azizian, Azadeh, Bernhardt, Markus, Wolff, Hendrik A., Grade, Marian, Ghadimi, Michael, Ströbel, Philipp, Schildhaus, Hans-Ulrich, Gaedcke, Jochen“…RESULTS: For 20 (43%) out of the 47 patients, a KRAS mutation was detected. With 12 out of 20, the majority of these mutations affected codon 35. …”
Publicado 2016
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1325“…The most commonly characterized category of mutation consists of monogenic, recessive traits, due to their genetic tractability. …”
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1326“…OBJECTIVE: To know the common CFTR mutations in the Egyptian patients with cystic fibrosis as it was previously thought to be uncommon disease in Egypt. …”
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1328por Lee, Jeong Ho“…Mutations occur during cell division in all somatic lineages. …”
Publicado 2016
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1329por Sankar, T. Sabari, Wastuwidyaningtyas, Brigitta D., Dong, Yuexin, Lewis, Sarah A., Wang, Jue D.“…Collisions may also trigger mutations, which are major contributors of genetic disease and evolution(5,7,11). …”
Publicado 2016
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1330por Arafeh, Rand, Qutob, Nouar, Emmanuel, Rafi, Keren-Paz, Alona, Madore, Jason, Elkahloun, Abdel, Wilmott, James S., Gartner, Jared J., Di Pizio, Antonella, Winograd-Katz, Sabina, Sindiri, Sivasish, Rotkopf, Ron, Dutton-Regester, Ken, Johansson, Peter, Pritchard, Antonia, Waddell, Nicola, Hill, Victoria K., Lin, Jimmy C., Hevroni, Yael, Rosenberg, Steven A., Khan, Javed, Ben-Dor, Shifra, Niv, Masha Y., Ulitsky, Igor, Mann, Graham J, Scolyer, Richard A., Hayward, Nicholas K., Samuels, Yardena“…Analysis of 501 melanoma exomes revealed RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas. Recurrent loss-of-function mutations in RASA2 were found to increase RAS activation, melanoma cell growth and migration. …”
Publicado 2015
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1331por BERGEN, ANDREW C.“…Under the traditional mutation load model based on multiplicative fitness effects, the load in a population is 1−e(−U), where U is the genomic deleterious mutation rate. …”
Publicado 2015
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1332por Morganella, Sandro, Alexandrov, Ludmil B., Glodzik, Dominik, Zou, Xueqing, Davies, Helen, Staaf, Johan, Sieuwerts, Anieta M., Brinkman, Arie B., Martin, Sancha, Ramakrishna, Manasa, Butler, Adam, Kim, Hyung-Yong, Borg, Åke, Sotiriou, Christos, Futreal, P. Andrew, Campbell, Peter J., Span, Paul N., Van Laere, Steven, Lakhani, Sunil R., Eyfjord, Jorunn E., Thompson, Alastair M., Stunnenberg, Hendrik G., van de Vijver, Marc J., Martens, John W. M., Børresen-Dale, Anne-Lise, Richardson, Andrea L., Kong, Gu, Thomas, Gilles, Sale, Julian, Rada, Cristina, Stratton, Michael R., Birney, Ewan, Nik-Zainal, Serena“…These mutations are, however, generated by multiple mutational processes operating through the cellular lineage between the fertilized egg and the cancer cell, each composed of specific DNA damage and repair components and leaving its own characteristic mutational signature on the genome. …”
Publicado 2016
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1333por Behjati, Sam, Gundem, Gunes, Wedge, David C., Roberts, Nicola D., Tarpey, Patrick S., Cooke, Susanna L., Van Loo, Peter, Alexandrov, Ludmil B., Ramakrishna, Manasa, Davies, Helen, Nik-Zainal, Serena, Hardy, Claire, Latimer, Calli, Raine, Keiran M., Stebbings, Lucy, Menzies, Andy, Jones, David, Shepherd, Rebecca, Butler, Adam P., Teague, Jon W., Jorgensen, Mette, Khatri, Bhavisha, Pillay, Nischalan, Shlien, Adam, Futreal, P. Andrew, Badie, Christophe, McDermott, Ultan, Bova, G. Steven, Richardson, Andrea L., Flanagan, Adrienne M., Stratton, Michael R., Campbell, Peter J.“…Both small deletions and inversions generate driver mutations. Thus, ionizing radiation generates distinctive mutational signatures that explain its carcinogenic potential.…”
Publicado 2016
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1334por Gardie, Betty, Percy, Melanie J, Hoogewijs, David, Chowdhury, Rasheduzzaman, Bento, Celeste, Arsenault, Patrick R, Richard, Stéphane, Almeida, Helena, Ewing, Joanne, Lambert, Frédéric, McMullin, Mary Frances, Schofield, Christopher J, Lee, Frank S“…To date, 24 different EGLN1 mutations comprising missense, frameshift, and nonsense mutations have been described. …”
Publicado 2014
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1335“…We propose a modification of the Crow-Kimura and Eigen models of biological molecular evolution to include a mutator gene that causes both an increase in the mutation rate and a change in the fitness landscape. …”
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1336por Belavkin, Roman V., Channon, Alastair, Aston, Elizabeth, Aston, John, Krašovec, Rok, Knight, Christopher G.“…A common view in evolutionary biology is that mutation rates are minimised. However, studies in combinatorial optimisation and search have shown a clear advantage of using variable mutation rates as a control parameter to optimise the performance of evolutionary algorithms. …”
Publicado 2016
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1337“…We dissect the steps involved, emphasizing that dating evolutionary events requires not “a mutation rate” but a precise characterization of how mutations accumulate in development in males and females—knowledge that remains elusive.…”
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1338por Michałowska, Ilona, Ćwikła, Jarosław, Prejbisz, Aleksander, Kwiatek, Paweł, Szperl, Małgorzata, Michalski, Wojciech, Wyrwicz, Lucjan, Kuśmierczyk, Mariusz, Januszewicz, Andrzej, Maciejczyk, Anna, Roszczynko, Marta, Pęczkowska, Mariola“…AIM: To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related to SDHx gene mutations. MATERIAL AND METHODS: Retrospective analysis of 75 patients with confirmed SDHx gene mutations (24 patients with SDHB, 5 SDHC, 46 with SDHD mutations) was performed. …”
Publicado 2016
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1339por Song, Zhi-Jian, Reitman, Zachary J, Ma, Zeng-Yi, Chen, Jian-Hua, Zhang, Qi-Lin, Shou, Xue-Fei, Huang, Chuan-Xin, Wang, Yong-Fei, Li, Shi-Qi, Mao, Ying, Zhou, Liang-Fu, Lian, Bao-Feng, Yan, Hai, Shi, Yong-Yong, Zhao, YaoEnlace del recurso
Publicado 2016
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1340“…It has been estimated that GBA1 mutations confer a 20‐ to 30‐fold increased risk for the development of PD, and that at least 7–10% of PD patients have a GBA1 mutation. …”
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