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BACKGROUND Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy phenotypes. Using a next-generation sequencing approach, we identified mutations in a novel centriolar disease gene in a kindred with an(More)
BACKGROUND Obesity increases the risk of many serious illnesses such as coronary heart disease, type 2 diabetes and osteoarthritis. More men than women are overweight or obese in the UK but men are less likely to perceive their weight as a problem and less likely to engage with weight-loss services. OBJECTIVE The aim of this study was to systematically(More)
Protein phosphorylation and dephosphorylation (catalysed by kinases and phosphatases, respectively) are post-translational modifications that play key roles in many eukaryotic signalling pathways, and are often deregulated in a number of pathological conditions in humans. In the malaria parasite Plasmodium, functional insights into its kinome have only(More)
Aicardi-Goutières syndrome (AGS) provides a monogenic model of nucleic acid-mediated inflammation relevant to the pathogenesis of systemic autoimmunity. Mutations that impair ribonuclease (RNase) H2 enzyme function are the most frequent cause of this autoinflammatory disorder of childhood and are also associated with systemic lupus erythematosus. Reduced(More)
For many real-world problems, there exist non-deterministic heuristics which generate valid but possibly sub-optimal solutions. The program optimisation with dependency injection method, introduced here, allows such a heuristic to be placed under evolutionary control, allowing search for the optimum. Essentially, the heuristic is " fooled " into using a(More)
Extraction of events and understanding related temporal expression among them is a major challenge in natural language processing. In longer texts, processing on sentence-by-sentence or expression-by-expression basis often fails, in part due to the disregard for the consistency of the processed data. We present an ensemble method, which reconciles the(More)