RET Mutational Spectrum in Hirschsprung Disease: Evaluation of 601 Chinese Patients

Rare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial)

Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis

10.1371/journal.pone.0053830PLoS ONE81

Selective perrhenate recognition in pure water by halogen bonding and hydrogen bonding alpha-cyclodextrin based receptors

Alpha-cyclodextrin based anion receptors functionalised with pendant arms containing halogen and hydrogen bond donor motifs display selective association of perrhenate in aqueous media at neutral pH. NMR and ITC anion binding investigations reveal the halogen bonding receptor to be the superior host

Selective perrhenate recognition in pure water by halogen bonding and hydrogen bonding alpha-cyclodextrin based receptors

Alpha-cyclodextrin based anion receptors functionalised with pendant arms containing halogen and hydrogen bond donor motifs display selective association of perrhenate in aqueous media at neutral pH. NMR and ITC anion binding investigations reveal the halogen bonding receptor to be the superior host

Synthesis and EPR studies of the first water-soluble N@C60 derivative

The first water-soluble derivative of the paramagnetic endohedral fullerene N@C60 has been prepared through the covalent attachment of a single addend containing two permethylated β-cyclodextrin units to the surface of the carbon cage. The line width of the derivative's EPR signal is highly sensitive to both the nature of the solvent and the presence of Cu(ii) ions in solution

Searching for two categories of target in dynamic visual displays impairs monitoring ability

© 2018 John Wiley & Sons, Ltd. Target onsets in dynamically changing displays can be predicted when contingencies exist between different stimulus states over time. In the present study, we examined predictive monitoring when participants searched dynamically changing displays of numbers and colored squares for a color target, a number target, or both. Stimuli were presented in both contiguous and discrete spatial configurations. Response time (RT) and accuracy were recorded, and evidence of predictive monitoring was assessed via first fixations and refixations of target-predictive stimuli. RTs to target onsets and evidence of predictive monitoring were reduced in dual-target, relative to single-target, conditions. Further, predictive monitoring did not speed RTs but was influenced by display configuration. In particular, discrete displays impaired monitoring for number targets in the dual-target condition. Implications exist for real-world visual tasks involving multiple target categories and for visual display design