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From our analysis, mutations important for virus multiplication were not restricted to non-conserved residues (e.g. W75; Table 1; Figure 5 E and F).
To determine if specific OCA2 residues are required for Cl− transport, we sought to identify mutations important for ion transport, but not melanosomal localization.
A key challenge in cancer genomics is to distinguish driver mutations, mutations important for cancer development, from random passenger mutations that have accumulated in somatic cells but do not have functional consequences.
A key challenge in interpreting these data is to distinguish driver mutations, mutations important for cancer development, from passenger mutations that have accumulated in somatic cells but without functional consequences.
While much attention is focused on heterogeneity that originated within neoplasms, theoretical calculations suggest that many mutations important for cancer may occur early in development, because a single early mutation may be transmitted to thousands or millions of daughter cells in a growing body (Frank 2010).
In addition, use of pHH-derived hiPSCs for generating patient-specific hepatocytes may also be of interest for developing disease models, since, for example, somatic mutations important for development and progression of liver cell tumours are acquired in the liver only and cannot be mirrored by cells generated from fibroblast-derived hiPSCs (Bluteau et al. 2002).
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However, this collaborative study suggests that not only is the presence of a codon 12 glycine to valine mutation important for cancer progression but also that it may predispose to more aggressive biological behaviour in patients with advanced colorectal cancer.
This indicates that although the Ser/Pro and Leu/Gln mutations are important for-specificity for 17α-hydroxy-steroids, other amino acids influence the role of Leu and Gln on the MR and GR, respectively, in this response.
The development of simple, reliable, and rapid approaches for molecular detection of common mutations is important for prevention and early diagnosis of genetic diseases, including Thalessemia.
Elucidating how the metal site of SOD1 can be disrupted by ALS-linked mutations is important for a better understanding of the pathogenesis of the disease and for developing more efficient treatments.
The occurrence of multiple amino acid substitutions appears to be common in CYP102A1 natural variants, although it is unclear as yet whether all identified mutations are important for substrate affinity, thermal stability, catalytic activities, and their promiscuity to non-natural substrates.
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