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Association of Genetic Variants in the IL4 and IL4R Genes With the Severity of Joint Damage in Rheumatoid Arthritis: A Study in Seven Cohorts

ObjectiveThe progression of joint destruction in rheumatoid arthritis (RA) is determined by genetic factors. Changes in IL4 and IL4R genes have been associated with RA severity, but this finding has not been replicated. This study was undertaken to investigate the association between IL4- and IL4R-tagging single-nucleotide polymorphisms (SNPs) and the progression rate of joint damage in RA in a mu

Proteomic Analysis of Tendon Extracellular Matrix Reveals Disease Stage- specific Fragmentation and Differential Cleavage of COMP ( Cartilage Oligomeric Matrix Protein)*

Background: Tendon disease is characterized by extensive remodeling of the extracellular matrix. Results: Novel COMP cleavage fragments were identified in both an in vitro inflammatory model and natural disease. Conclusion: Inflammatory mediators drive distinct COMP fragmentation at different stages of tendon disease. Significance: Novel COMP neo-terminal fragments provide opportunities for develo

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain t

Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome

Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvemen

Water-Responsive Internally Structured Polymer Surfactant Films on Solid Surfaces

Water-insoluble films of oppositely charged polyionsurfactant ion complex salts (CS) are readily cast on solid surfaces from ethanolic solutions. The methodology introduces new possibilities to study and utilize more or less hydrated CS. Direct SAXS measurements show that the surface films are water-responsive and change their liquid crystalline structure in response to changes in the water activi

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.

Medulloblastoma is a highly malignant paediatric brain tumour currently treated with a combination of surgery, radiation and chemotherapy, posing a considerable burden of toxicity to the developing child. Genomics has illuminated the extensive intertumoral heterogeneity of medulloblastoma, identifying four distinct molecular subgroups. Group 3 and group 4 subgroup medulloblastomas account for most

A qualitative survey of regression testing practices

Aim: Regression testing practices in industry have to be better understood, both for the industry itself and for the research community. Method: We conducted a qualitative industry survey by i) running a focus group meeting with 15 industry participants and ii) validating the outcome in an on line questionnaire with 32 respondents. Results: Regression testing needs and practices vary greatly betwe

A Mendelian randomization study of circulating uric acid and type 2 diabetes.

We aimed to investigate the causal effect of circulating uric acid concentrations on type 2 diabetes risk. A Mendelian randomization study was performed using a genetic score with 24 uric acid associated loci. We used data of the EPIC-InterAct case-cohort study, comprising 24,265 individuals of European ancestry from eight European countries. During a mean (SD) follow-up of 10 (4) years, 10,576 ve

Search for supersymmetry in final states with jets, missing transverse momentum and one isolated lepton in root s=7 TeV pp collisions using 1 fb(-1) of ATLAS data

We present an update of a search for supersymmetry in final states containing jets, missing transverse momentum, and one isolated electron or muon, using 1.04 fb(-1) of proton-proton collision data at root s =7 TeV recorded by the ATLAS experiment at the LHC in the first half of 2011. The analysis is carried out in four distinct signal regions with either three or four jets and variations on the (

PON-P: Integrated Predictor for Pathogenicity of Missense Variants

High-throughput sequencing data generation demands the development of methods for interpreting the effects of genomic variants. Numerous computational methods have been developed to assess the impact of variations because experimental methods are unable to cope with both the speed and volume of data generation. To harness the strength of currently available predictors, the Pathogenic-or-Not-Pipeli

Deschampsia cespitosa and soil acidification: general and trait-specific responses to acid and aluminium stress in a solution experiment

Genetically based adaptation and phenotypic plasticity represent important means of coping with natural or human-induced increases in soil acidity. In the present study, we examined the role of phenotypic plasticity in the grass Deschampsia cespitosa by testing for general and trait-specific responses to acid and aluminium (Al) stress. We sampled tussocks (genets) from sites in southern Sweden dif

What Does the Acceptance and Action Questionnaire (AAQ-II) Really Measure?

The present study seeks to investigate the extent to which the Acceptance and Action Questionnaire (AAQ-II) is successful in discriminating between experiential avoidance/psychological flexibility on the one hand and the supposed outcomes in terms of psychological well-being of having this trait on the other. This was done using exploratory factor analysis on an item pool containing the AAQ-II ite

Cortex synthesis during Bacillus subtilis sporulation depends on the transpeptidase activity of SpoVD.

The nonessential process of peptidoglycan synthesis during Bacillus subtilis sporulation is one model to study bacterial cell wall biogenesis. SpoVD is a class B high-molecular weight penicillin-binding protein that is specific for sporulation. Strains lacking this protein produce spores without the peptidoglycan cortex layer and are heat-sensitive. The detailed functions of the four different pro

Probing the smallest soot particles in low-sooting premixed flames using laser-induced incandescence

In this work we investigate nascent soot particles by analyzing laser-induced incandescence (LII) signals obtained in low-sooting premixed flames. The analysis covers two data sets obtained in separate experimental campaigns. The first data set was obtained in a previous work (Mouton et al., 2013) in methane/oxygen/nitrogen flames (equivalence ratio range 1.95 < Phi < 2.32) at 26.7 kPa, whereas th

Time trends between 1987 and 2007 for perfluoroalkyl acids in plasma from Swedish women.

Perfluoroalkyl acids (PFAAs) are a large group of chemicals which are highly persistent in both nature and humans. The use of the most prominent ones, perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA), was reduced in the early 21st century, and since then levels in human matrices have decreased. However, these two compounds have been exchanged by other PFAAs, for which time trends

Biochar increases arbuscular mycorrhizal plant growth enhancement and ameliorates salinity stress

We examined combined effects of biochar, arbuscular mycorrhizal (AM) fungi and salinity on plant growth and physiology to test whether and how biochar influences AM fungi mediated growth and nutrition enhancements, and whether and how biochar provides amelioration in salt stressed soils. We carried out a full three-factorial greenhouse experiment with Lactuca sativa; and a second study with a wide

Season of birth and risk of Hodgkin and non-Hodgkin lymphoma

Infectious etiologies have been hypothesized for Hodgkin and non-Hodgkin lymphoma (HL and NHL) in early life, but findings to date for specific lymphomas and periods of susceptibility are conflicting. We conducted the first national cohort study to examine whether season of birth, a proxy for infectious exposures in the first few months of life, is associated with HL or NHL in childhood through yo

Prolactin insufficiency but normal thyroid hormone levels after cranial radiotherapy in long-term survivors of childhood leukaemia.

BACKGROUND: Acute lymphoblastic leukaemia (ALL) patients treated with cranial radiotherapy (CRT) have an increased risk of GH deficiency (GHD). Little is known about insufficiencies of prolactin (PRL) and TSH, but also lactation failure has been reported in this population. OBJECTIVE: To study the long-term outcome of CRT on PRL and thyroid hormone levels in GHD ALL patients, and the prevalence of

High salt buffer improves integrity of RNA after fluorescence-activated cell sorting of intracellular labeled cells.

Over the past years, massive progress has been made in the ability to collect large-scale gene expression data from a limited sample size. Combined with improvements in multiplex flow cytometry-based techniques, this has made it possible to isolate and characterize specific cellular subtypes within heterogeneous populations, with a great impact on our understanding of different biological processe