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621por Seruca, R., David, L., Holm, R., Nesland, J. M., Fangan, B. M., Castedo, S., Sobrinho-Simões, M., Børresen, A. L.“…The study of nine of these cases by constant denaturant gel electrophoresis revealed p53 mutations in three cases. We conclude that the prevalence of mutations of p53 in our series is similar to what has recently been observed in other cases of gastric cancer, but lower than in colon carcinomas. …”
Publicado 1992
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622
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623“…Mutation and abnormal expression of p53 was studied in 38 lymphomas [five Hodgkin's disease and 33 non-Hodgkin's lymphoma (NHL)]. …”
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624
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625por De Kruif, Paul H.“…A Type D culture subjected to passage in plain broth undergoes D → G mutation. Type D and G individuals can be demonstrated to be present in the same culture. …”
Publicado 1922
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626por Orcutt, Marion L.“…In the hog-cholera group the mutation from smooth (A) to granular (B) type occurs and a mutant with a moist, opaque colony formation was noted. 2. …”
Publicado 1923
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627“…If genetic testing for breast and ovarian cancer predisposition is to become available within a public health care system there needs to be a rational and cost-effective approach to mutation analysis. We have screened for BRCA1 mutations in 230 women with breast cancer, all from the Wessex region of southern England, in order to establish the parameters on which to base a cost-effective regional mutation analysis strategy. …”
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628Publicado 1990“…All of the mutations identified were single base substitutions. …”
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629Publicado 1989“…In some cases, multiple mutations affecting different ras alleles were detected. …”
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631por Rand, David M“…Animal mitochondrial genomes have high rates of sequence evolution, and should decay from the accumulation of deleterious mutations. But the purging of mutant mtDNAs in a pedigree of "mutator mice" reveals the speed and power of purifying selection to maintain mitochondrial function.…”
Publicado 2008
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632por Baer, Charles F“…Recent evidence suggests that mutation rates are fitness-dependent, broadening our view of the impacts of mutation on the genetic health of populations.…”
Publicado 2008
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633por Cooper, Jennifer L, Till, Bradley J, Laport, Robert G, Darlow, Margaret C, Kleffner, Justin M, Jamai, Aziz, El-Mellouki, Tarik, Liu, Shiming, Ritchie, Rae, Nielsen, Niels, Bilyeu, Kristin D, Meksem, Khalid, Comai, Luca, Henikoff, Steven“…RESULTS: We screened seven targets in each population and discovered a total of 116 induced mutations. The NMU-treated population and one EMS mutagenized population had similar mutation density (~1/140 kb), while another EMS population had a mutation density of ~1/250 kb. …”
Publicado 2008
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634“…RESULTS: We focus on studies describing interactions of chaperones with mutated polypeptides. There are some examples that chaperones can alleviate the deleterious effects of mutations through increased assistance of destabilized proteins. …”
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635“…Two homozygous deletions were identified but no mutations. Of 15 bladder tumour cell lines analysed, three showed homozygous deletion of all or part of the PTEN gene, but none had mutations detectable by SSCP analysis. …”
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636“…BACKGROUND: There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA) diseases. …”
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637por Lee, J W, Yoo, N J, Soung, Y H, Kim, H S, Park, W S, Kim, S Y, Lee, J H, Park, J Y, Cho, Y G, Kim, C J, Ko, Y H, Kim, S H, Nam, S W, Lee, J Y, Lee, S H“…BRAF, which encodes an RAF family member in the downstream pathway of RAS, is somatically mutated in a number of human cancers. The activating mutation of BRAF is known to play a role in tumour development. …”
Publicado 2003
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638“…CONCLUSION: If an individual acquires one of two mutations needed for a novel trait, the second mutation can be introduced into the phenotype due to transcription and translation errors. …”
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639por Cho, Kyoung-Won, Kim, Jae-Young, Cho, Jae-Woo, Cho, Kyu-Hyuk, Song, Chang-Woo, Jung, Han-Sung“…However, the expression level of Shh was not changed in Hoxd12 point mutated mice. CONCLUSION: These results suggest that point mutation rather than the entire deletion of Hoxd12, such as in knockout and transgenic mice, causes the abnormal limb phenotype in microdactyly mice. …”
Publicado 2008
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640“…The mutation rate is known to vary between adjacent sites within the human genome as a consequence of context, the most well-studied example being the influence of CpG dinucelotides. …”
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