“…Loss-of-function folliculin mutations have also been described in pedigrees with familial spontaneous pneumothorax. …”
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“…Andreas Sandgren and colleagues describe a new comprehensive resource on drug resistance mutations inM. tuberculosis.…”
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“…However, no somatic mutations were detected in the coding region of AKT1. …”
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“…Quantification of total mtDNA mutation load in ageing tissues is difficult as mutational events are rare in a background of wild-type molecules, and detection of individual mutated molecules is beyond the sensitivity of most sequencing based techniques. …”
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“…Mitochondrial DNA mutations cause disease in > 1 in 5000 of the population, and ∼ 1 in 200 of the population are asymptomatic carriers of a pathogenic mtDNA mutation. …”
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“…Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions in 8 families that diminish microtubule binding and lead to intracytoplasmic inclusions. DCTN1 mutations were previously associated with motor neuron disease but can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.…”
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“…The rate of mutation refers to the probability that a unit length of DNA (generally a base pair) mutates with time. …”
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“…Moreover, we study the reasons behind the optimal parameters. The optimal mutation rate, in agreement with the hypermutation rate in vivo, results from a tradeoff between accumulating enough beneficial mutations and avoiding too many deleterious or lethal mutations. …”
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“…Mutations in sarcomeric proteins have recently been established as heritable causes of Restrictive Cardiomyopathy (RCM). …”
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“…In this case, samples from 32% of the patients exhibited mutations in one or more MAGE genes with the frequency of mutations in individual MAGE genes ranging from 6% in MAGEA1 to 16% in MAGEC1. …”
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“…Integration of the many available sources of cancer gene information—such as large-scale tumour-resequencing studies— identifies the ‘usual suspect' genes, mutated in many tumour types, as well as different sets of mutated genes according to the specific tumour type. …”
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“…Understanding why many functional Ang paralogs have been preserved in mouse and rat and identifying functional divergence mutations at these copies may explain the relationship between mutations and function. …”
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“…This further suggests that, contrary to the common disease-common variant hypothesis, pathogenic mutations are largely population-specific and different SNPs may be associated with the same disease in different populations. …”
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“…In addition, mounting evidence suggests that most mtDNA mutations may be generated by replication errors and not by accumulated damage.…”
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“…BACKGROUND: Mutation scanning technology has been used to develop crop species with improved traits. …”
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“…In contrast, the phosphorylation of T308 and of S473 fulfills essential, distinct, and non-overlapping functions that we define with inactivating and with phosphomimetic mutations of these sites.…”
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“…Some of the mutations are expected to produce truncated polypeptides. …”
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“…Despite substantial attention from theoreticians, the evolutionary mechanisms that drive intra- and interspecific variation in the mutation rate remain unclear. It has often been argued that mutation rates associated with the major replicative polymerases have been driven down to their physiological limits, defined as the point at which further enhancement in replication fidelity incurs a cost in terms of reproductive output, but no evidence in support of this argument has emerged for cellular organisms. …”
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