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Although deaf children depend upon sight for communication, retinitis pigmentosa is present in 6 per cent of those with a profound hearing deficit. Usher syndrome type 1 (USH-1) is an autosomal recessive disease characterised by profound hearing impairment, absent vestibular function, and progressive loss of vision due to retinitis pigmentosa. Owing to the severe handicap of the combined disorders

1. We estimated the correlation between host phylogeographical structure and beta diversity of avian haemosporidian assemblages of passerine birds to determine the degree to which parasite communities change with host evolution, expressed as genetic divergence between island populations, and we investigated whether differences among islands in the haemosporidia of a particular host species reflect

We use Gaia-ESO (GES) Survey iDR4 data to explore the Mg-Al anti-correlation in globular clusters that were observed as calibrators, as a demonstration of the quality of Gaia-ESO Survey data and analysis. The results compare well with the available literature, within 0.1 dex or less, after a small (compared to the internal spreads) offset between the UVES and GIRAFFE data of 0.10-0.15 dex was take

Higher levels of circulating adiponectin have been related to lower risk of colorectal cancer in several prospective cohort studies, but it remains unclear whether this association may be causal. We aimed to improve causal inference in a Mendelian Randomization meta-analysis using nested case–control studies of the European Prospective Investigation into Cancer and Nutrition (EPIC, 623 cases, 623

Early genome-wide association (GWA) studies on Parkinson's disease (PD) have not been able to yield conclusive, replicable signals of association, perhaps due to limited sample size. We aimed to investigate whether association signals derived from the meta-analysis of the first two GWA investigations might be replicable in different populations. We examined six single-nucleotide polymorphisms (SNP

Purpose: To evaluate the estrogen receptor coactivator amplified in breast cancer 1 (AIB1) as a prognostic marker, as well as a predictive marker for response to adjuvant tamoxifen and/or aromatase inhibitors, in early estrogen receptor-positive breast cancer. Method: AIB1 was analyzed with immunohistochemistry in tissue microarrays of the Danish subcohort (N = 1396) of the International Breast Ca

Modelling the distribution of migratory species has rarely been extended beyond breeding and wintering ranges despite many species showing much more complex movement patterns with multiple stopovers. We aimed to create a temporally explicit species distribution model describing the full annual distribution cycle, and use it to model the complex seasonal shifts in distribution of the common cuckoo

In aqueous systems with immobilized macromolecules, including biological tissues, the longitudinal spin relaxation of water protons is primarily induced by exchange-mediated orientational randomization (EMOR) of intra- and intermolecular magnetic dipole-dipole couplings. Starting from the stochastic Liouville equation, we have previously developed a rigorous EMOR relaxation theory for dipole-coupl

BACKGROUND: Given the identity between Neisseria meningitidis serogroup B (MenB) capsular polysaccharide (polysialic acid; PSA) and PSA found on neural cell adhesion molecules, it has been proposed that infection with MenB or vaccination with PSA may be associated with subsequent autoimmune or neurological disease.METHODS: We conducted 2 studies. The first was a retrospective nationwide study of i

In the sporadic permafrost zone of North America, thaw‐induced boreal forest loss is leading to permafrost‐free wetland expansion. These land cover changes alter landscape‐scale surface properties with potentially large, however, still unknown impacts on regional climates. In this study, we combine nested eddy covariance flux tower measurements with satellite remote sensing to characterize the imp

There is growing evidence of ongoing changes in the statistics of intra-seasonal rainfall variability over large parts of the world. Changes in annual total rainfall may arise from shifts, either singly or in a combination, of distinctive intra-seasonal characteristics -i.e. rainfall frequency, rainfall intensity, and rainfall seasonality. Understanding how various ecosystems respond to the change

Both research and policy recognize land systems as fundamental to human life and activities. However, these two perspectives approach land from different ends and it can be difficult to see how studied variables contribute to broader policy goals. In this paper, we argue that there is a need to better select variables to study land systems as social-ecological systems, and to align research more w

Background: The Ca2+ binding apoptosis-linked gene-2 (ALG-2) protein acts as a proapoptotic factor in a variety of cell lines and is required either downstream or independently of caspases for apoptosis to occur. ALG-2 belongs to the penta-EF-hand (PEF) protein family and has two high-affinity and one low-affinity Ca2+ binding sites. Like other PEF proteins, its N terminus contains a Gly/Pro-rich

Objective: IgG antibodies against apolipoprotein A-I (ApoA-I) have been found to be elevated in subjects from the general population with clinically manifest cardiovascular disease and in myocardial infarction patients with an adverse prognosis. Here, we investigated whether these antibodies are prospectively associated with carotid artery disease progression and with the risk for first-time cardi

Migration usually consists of intermittent travel and stopovers, the latter being crucially important for individuals to recover and refuel to successfully complete migration. Quantifying how sickness behaviours influence stopovers is crucial for our understanding of migration ecology and how diseases spread. However, little is known about infections in songbirds, which constitute the majority of