BACKGROUND: Identifying causal variants among tens or hundreds of associated variants at each locus in genome-wide association studies is challenging. As the vast majority of genome-wide association ...

Background Inherited polyneuropathies often go undiagnosed. We investigated whole exome sequencing (WES) in utility to identify the genetic causes of diverse forms of inherited polyneuropathies ...

Hosono et al. (2003) reported that ex vivo culture of immune cells isolated from Peyer’s patches of fructo-oligosaccharide-fed mice resulted in increased concentrations of total IgA, IL-5, IL-6, and ...

Lipopolysaccharide-induced TNF-afactor (LITAF) is involved in the initiation of cytokine cascade in response to Salmonella infection (Ma et al., 2010). TLR2, TLR4, and TLR5 are activated on the host ...

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders that involve the peripheral nervous system.1 It is characterised by progressive distal neurogenic ...

Other genes have been routinely Sanger sequenced (e.g. EGR2 and LITAF), but have not yet been shown to contain pathogenic mutations – either in Norwegian (Table 2) or Spanish (19) studies. Mutations ...