Local adaptation, adaptive population divergence and speciation are often expected to result from populations evolving in response to spatial variation in selection. Yet, we lack a comprehensive understanding of the major features that characterise the spatial patterns of selection, namely the extent of ...
R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417–422 (1998). This seminal paper introduced the concept of genomic disorders, which are diseases resulting from DNA rearrangements favoured by intrinsic structural ...
Although a significant number of approved and investigational cancer drugs could be easily classified as targeted, the majority of which (21 out of 29) are kinase inhibitors, we concluded that very few drugs (four out of 48) were discovered entirely by 'classical' PDD. The remainder were disco...
In all growth conditions tested, catechol-type exosiderophores were clearly more efficient in inducing the expression of their corresponding transporters than the others, showing that bacteria opt for the use of catechol siderophores to access iron when they are present in the environment. In parallel...
The prevalence of skeletal and extraarticular features not used as diagnostic criteria, i.e., radiographic sacroiliitis, peripheral enthesitis, uveitis, psoriasis, and inflammatory bowel disease, was significantly increased in patients compared with unaffected siblings. This result was not accounted for ...
However, one and the same mutation is expected to be associated with a uniform clinical picture. In the present article, evidence is presented that this is not necessarily the case, and examples of identical mutations resulting in highly variable combinations of clinical features are discussed. ...
tracheal intubation for mechanical ventilation and/or death within 7 days of admission. Age- and sex-adjusted multivariable logistic regressions were performed to assess the prognostic value of clinical and biological features with the endpoint. ORs are reported for a 1 SD increase after ...
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These features are similar to those observed in failing human heart specimens and genetic cardiomyopathies (Sun et al., 2012), confirming that the changes in the pattern of sarcomere staining do reflect structural abnormality. As loss of sarcomeric integrity disturbs the close physical coupling ...
2,3 Over 95% of cases are principally the result of one of three “primary” mtDNA point mutations, G3460A, G11778A, and T14484C, which all involve genes encoding complex I subunits of the mitochondrial respiratory chain.4 However, only ~50% of male and ~10% of female LHON carriers ...