MicroRNAs (miRNAs) regulate genes post transcription by pairing with messenger RNA (mRNA). Variants such as single nucleotide polymorphisms (SNPs) in miRNA regulatory regions might result in altered protein levels and disease. Genome-wide association studies (GWAS) aim at identifying genomic regions that contain variants associated with disease, but lack tools for finding causative variants. We...

Chapter IIntroduction Introduction........................................................... 3 Epidemiology and Transmition.................................... 5 H.pylori virulence.....................................................8 Gastro duodenal pathology and immunity............................14 Vitamin B12 deficiency and Pernicious Anemia.................17 Pernicious Anemia..............

The verb MAKE is a one of the most intriguing verbs in the English language. Not only does it occur in various contexts and situations, but it also conveys a cluster of meanings, depending on the context of its use. Rather than dealing with all uses and meanings of MAKE, I will devote this paper to the study of the semantics of causative MAKE, that is the uses of MAKE with the complementation p...

A common idea in models of action representation is that actions are represented in terms of their perceptual effects (see e.g., Prinz, 1997; Hommel et al., 2001; Sahin et al., 2007; Umiltà et al., 2008; Hommel, 2013). In this paper we extend existing models of effect-based action representations to account for a novel distinction. Some actions bring about effects that are independent events in...

Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate...

and Implications Chondrodysplasia, inherited rickets and lower motor neuron disease are three sheep disorders in New Zealand that have been recently shown to be inherited apparently in a recessive manner. To discover the causative genes involved in the above diseases, around 50,000 genetic differences called single nucleotide polymorphisms (SNPs) throughout the genome were tested to define homo...