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601“…The notion that mutations are random relative to their fitness effects is central to the Neo-Darwinian view of evolution. …”
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602por Zhang, Chaowei, Reid, Kerry, Sands, Arthur F, Fraimout, Antoine, Schierup, Mikkel Heide, Merilä, Juha“…Mutation rate is a fundamental parameter in population genetics. …”
Publicado 2023
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603por Otlu, Burçak, Díaz-Gay, Marcos, Vermes, Ian, Bergstrom, Erik N., Zhivagui, Maria, Barnes, Mark, Alexandrov, Ludmil B.“…The somatic mutations found in a cancer genome are imprinted by different mutational processes. …”
Publicado 2023
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604por Verriello, Lorenzo, Lonigro, Incoronata Renata, Pessa, Maria Elena, Betto, Elena, Pauletto, Giada, Fogolari, Federico, Gigli, Gian Luigi, Curcio, Francesco“…The 3T deletion results in a mutated protein with a unique leucine residues deletion at the protein position 508, in the AAA ATPase domain. …”
Publicado 2021
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605por Ruis, Christopher, Weimann, Aaron, Tonkin-Hill, Gerry, Pandurangan, Arun Prasad, Matuszewska, Marta, Murray, Gemma G. R., Lévesque, Roger C., Blundell, Tom L., Floto, R. Andres, Parkhill, Julian“…Here we reconstruct mutational spectra for 84 clades from 31 diverse bacterial species and find distinct mutational patterns. …”
Publicado 2023
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606por Linh, Dao Nguyen Ha, Van Huy, Nguyen, Nguyen, Phuoc‐Dung, Le Thi, Phuong, Tuan, Hoang Anh, Van Nguyen, Trong, Tran, Thu Ha, Tran, Hai Anh, Ta, Thanh Dat, Pham, Tuan L. A., Bui, The‐Hung, Tran, Thinh Huy, Van Ta, Thanh, Tran, Van‐Khanh“…BACKGROUND: Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatment outcomes and patient management. …”
Publicado 2023
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607por Bhattacharya, Shubhra Ashish, Dias, Eve, Nieto-Aliseda, Andrea, Buschbeck, Marcus“…In this review, we will focus on STAG2 which is the most frequently mutated cohesin subunit in myeloid malignancies. STAG2 loss of function mutations are not associated with chromosomal aneuploidies or genomic instability. …”
Publicado 2023
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608por Prehn, Richmond T“…The almost universal belief that cancer is caused by mutation may gradually be giving way to the belief that cancer begins as a cellular adaptation that involves the local epigenetic silencing of various genes. …”
Publicado 2005
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610“…Somatic mutations of mitochondrial DNA have been detected in various pathologies such as cancer, neurodegenerative diseases, cardiac disorders and aging in general. …”
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611por Montville, Rebecca, Froissart, Remy, Remold, Susanna K, Tenaillon, Olivier, Turner, Paul E“…Mutational (genetic) robustness is phenotypic constancy in the face of mutational changes to the genome. …”
Publicado 2005
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612“…Here we show that disease-associated mutations occur in regions of genes that are conserved, and can identify likely disease-causing mutations. …”
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613“…Deviations from these equalities are therefore evidence for an asymmetry in selection and/or mutation between the two strands. By focusing on weakly selected regions that could be oriented with respect to replication in 43 out of 51 completely sequenced bacterial chromosomes, we have been able to detect asymmetric directional mutation pressures. …”
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614por Huber, Klaus Roland, Mirkovic, Borka, Nersesian, Rhea, Myers, Angela, Saiki, Randall, Bauer, Kurt“…Thus, in a cohort of 257 persons that were referred to our laboratory for analysis of CF gene mutations, reverse line probe assays for the most common CF mutations were performed. …”
Publicado 2002
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615por Rinchik, E M“…Understanding the molecular nature of mutations and the mechanisms by which mutations are translated into specific (and often complex) phenotypes, however, still looms as a major goal of mammalian biology. …”
Publicado 1987
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618por Natarajan, A T“…Hence, frequency of mutations is of limited value for estimating radiation doses immediately after an accident. …”
Publicado 1993
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620“…The HIV positive selection mutation database is a large-scale database available at that provides detailed selection pressure maps of HIV protease and reverse transcriptase, both of which are molecular targets of antiretroviral therapy. …”
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