16 research outputs found
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes
Internet teaching foundation for the Remote Sensing Core Curriculum program
The Remote Sensing Core Curriculum (RSCC) was initiated in 1993 to meet the demands for a college-level set of resources to enhance the quality of education across national and international campuses. The American Society of Photogrammetry and Remote Sensing adopted the RSCC in 1996 to sustain support of this educational initiative for its membership and collegiate community. A series of volumes, containing lectures, exercises, and data, is being created by expert contributors to address the different technical fields of remote sensing. The RSCC program is designed to operate on the Internet taking full advantage of the World Wide Web (WWW) technology for distance learning. The issues of curriculum development related to the educational setting, with demands on faculty, students, and facilities, is considered to understand the new paradigms for WWW-influenced computer-aided learning. The WWW is shown to be especially appropriate for facilitating remote sensing education with requirements for addressing image data sets and multimedia learning tools. The RSCC is located at http://www.umbc.edu/rscc. The Remote Sensing Core Curriculum (RSCC) was initiated in 1993 to meet the demands for a college-level set of resources to enhance the quality of education across national and international campuses. The American Society of Photogrammetry and Remote Sensing adopted the RSCC in 1996 to sustain support of this educational initiative for its membership and collegiate community. A series of volumes, containing lectures, exercises, and data, is being created by expert contributors to address the different technical fields of remote sensing. The RSCC program is designed to operate on the Internet taking full advantage of the World Wide Web (WWW) technology for distance learning. The issues of curriculum development related to the educational setting, with demands on faculty, students, and facilities, is considered to understand the new paradigms for WWW-influenced computer-aided learning. The WWW is shown to be especially appropriate for facilitating remote sensing education with requirements for addressing image data sets and multimedia learning tools. The RSCC is located at http://www.umbc.edu/rscc
Severe enterovirus infections in hospitalized children in the South of England - clinical phenotypes and causative genotypes
Meaning selection and the subcortex: Evidence of reduced lexical ambiguity repetition effects following subcortical lesions
Recent research indicates that individuals with nonthalamic subcortical (NS) lesions call experience difficulties processing lexical ambiguities in a variety of contexts. This study examined how prior processing of a lexical ambiguity influences subsequent meaning activation in 10 individuals with NS lesions and 10 matched healthy controls. Subjects made speeded lexical decisions oil related or unrelated targets following homophone primes. Homophones were repealed with different targets biasing the same or different meanings oil the second presentation. The effects of prime-target relatedness, interstimulus interval (200 or 1250 ms), and same vs different meaning repetition were examined Both the patient and control groups showed printing when the same homophone meaning was biased oil repetition. When a different meaning was biased on the second presentation. no priming was evident in the controls, while facilitation remained present for the NS group, consistent with aberrant meaning selection and deactivation processes. These findings are discussed in terms of age and task-related repetition effects and current conceptions of frontal-subcortical involvement in cognition