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None of our 20 predicted (combined criteria rule) CCR5-tropic sequences had the combinations of mutations which has been previously described and found in 7% of maraviroc-naive viruses [44], [45], [46].
We also observed a case with two concurrent exon 9 mutations, which has not been previously reported in MBC.
We also examined the prognostic impact of the location of the CEBPA mutations, which has never been examined in pediatric AML patients.
We found an indication for BRCA1 methylation to be specifically associated with AI at the BRCA1 locus and an elevated frequency of TP53 mutations, which has not been reported previously.
The pathogenic mechanism of the different LHON mutations, which has not been fully elucidated yet, may be relevant to the variable success of idebenone in compensating complex I dysfunction.
Hirschsprung disease is one of the most complex genetic disorders in terms of the number of modifier genes (Garcia-Barcelo et al. 2009; Tang et al. 2010) known to influence the penetrance of its causative mutations, which has been estimated to be of the order of 50 70 % (Bolk et al. 2000).
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BRAF-mutated melanoma contain a lot of additional mutations which have been shown to overcome the effects of BRAF (and MEK) inhibitors and lead to a primary resistance to the drug (reviewed by Shtivelman et al).
On further investigation, the scientists found that two other mutations, which had negligible effects by themselves, strengthened some of the protein's folds so it could withstand the other five mutations.
That way, any mutations which have arisen during DNA replication will not affect the all-important stem cell population.In this section Wild East or scientific feast?
He reasoned that harmful mutations which have their effect before the menopause (or, in the more sophisticated version, before the last child has fled the nest) will be eliminated by natural selection.
Recently, cortical sparing adrenalectomy in patients with RET or VHL mutations which had low risk of malignant PPGL has been reported [12, 13].
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Justyna Jupowicz-Kozak
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