Queen's University Belfast

About: Queen's University Belfast is a education organization based out in Belfast, United Kingdom. It is known for research contribution in the topics: Population & Context (language use). The organization has 25457 authors who have published 55463 publications receiving 1751346 citations. The organization is also known as: Queen's College, Belfast & Queen's College.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Abstract: Papillon-Lefevre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients. Both the deciduous and permanent dentitions are affected, resulting in premature tooth loss. Palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis, typically develops within the first three years of life. Keratosis also affects other sites such as elbows and knees. Most PLS patients display both periodontitis and hyperkeratosis. Some patients have only palmoplantar keratosis or periodontitis, and in rare individuals the periodontitis is mild and of late onset. The PLS locus has been mapped to chromosome 11q14-q21 (refs 7, 8, 9). Using homozygosity mapping in eight small consanguineous families, we have narrowed the candidate region to a 1.2-cM interval between D11S4082 and D11S931. The gene (CTSC) encoding the lysosomal protease cathepsin C (or dipeptidyl aminopeptidase I) lies within this interval. We defined the genomic structure of CTSC and found mutations in all eight families. In two of these families we used a functional assay to demonstrate an almost total loss of cathepsin C activity in PLS patients and reduced activity in obligate carriers.

A potential vulnerability locus for schizophrenia on chromosome 6p24–22: evidence for genetic heterogeneity

Abstract: In 265 Irish pedigrees, with linkage analysis we find evidence for a vulnerability locus for schizophrenia in region 6p24-22 The greatest lod score, assuming locus heterogeneity, is 351 (P = 00002) with D6S296 Another test, the C test, also supported linkage, the strongest results being obtained with D6S296 (P = 000001), D6S274 (P = 0004) and D6S285 (P = 0006) Non-parametric analysis yielded suggestive, but substantially weaker, findings This locus appears to influence the vulnerability to schizophrenia in roughly 15 to 30% of our pedigrees Evidence for linkage was maximal using an intermediate phenotypic definition and declined when this definition was narrowed or was broadened to include other psychiatric disorders

Fluorescent PET (Photoinduced Electron Transfer) sensors as potent analytical tools

Abstract: Fluorescent sensors are an important part of the analytical scientist's toolbox. The use of fluorescent PET (Photoinduced Electron Transfer) sensors has seen particular growth in recent times. This Critical Review discusses recent growth areas in fluorescent PET sensors by emphasizing the modular features of the ‘fluorophore–spacer–receptor’ design. The occurrence of the dipicolylamine receptor in PET sensor designs is critically examined as a case in point.

Super-luminous Type Ic Supernovae: Catching a Magnetar by the Tail

Abstract: We report extensive observational data for five of the lowest redshift Super-Luminous Type Ic Supernovae (SL-SNe Ic) discovered to date, namely PTF10hgi, SN2011ke, PTF11rks, SN2011kf and SN2012il. Photometric imaging of the transients at +50 to +230 days after peak combined with host galaxy subtraction reveals a luminous tail phase for four of these SL-SNe. A high resolution, optical and near infrared spectrum from xshooter provides detection of a broad He I �10830 emission line in the spectrum (+50d) of SN2012il, revealing that at least some SL-SNe Ic are not completely helium free. At first sight, the tail luminosity decline rates that we measure are consistent with the radioactive decay of 56 Co, and would require 1-4 M⊙ of 56 Ni to produce the luminosity. These 56 Ni masses cannot be made consistent with the short diffusion times at peak, and indeed are insufficient to power the peak luminosity. We instead favour energy deposition by newborn magnetars as the power source for these objects. A semi-analytical diffusion model with energy input from the spindown of a magnetar reproduces the extensive lightcurve data well. The model predictions of ejecta velocities and temperatures which are required are in reasonable agreement with those determined from our observations. We derive magnetar energies of 0.4 . E(10 51 erg) . 6.9 and ejecta masses of 2.3 . Mej(M⊙) . 8.6. The sample of five SL-SNe Ic presented here, combined with SN 2010gx - the best sampled SL-SNe Ic so far - point toward an explosion driven by a magnetar as a viable explanation for all SL-SNe Ic. Subject headings: supernovae: general - supernovae: individual (PTF10hgi, SN 2011ke, PTF11rks, SN 2011kf, SN 2012il) - stars: magnetars