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Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

SEE GANDHI AND PLUN-FAVREAU DOI101093/AWW320 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: It has been postulated that heterozygous mutations in recessive Parkinson's genes may increase the risk of developing the disease. In particular, the PTEN-induced putative kinase 1 (PINK1) p.G411S (c.1231G>A, rs45478900) mutation has been reported in families with dominant inheritance patterns of Parkinson's

Detection of a t(1;22)(q23;q 12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma

Chromosome banding as well as molecular cytogenetic methods are of great help in the diagnosis of mesenchymal tumors. Myoepithelial neoplasms of soft tissue including myoepitheliomas, mixed tumors, and parachordomas are diagnoses that have been increasingly recognized the last few years. It is still debated which neoplasms should be included in these morphologically heterogeneous entities, and the

Necrosis of malignant gliomas after intratumoral injection of 201Tl in vivo in the rat

Fourteen adult Fischer 344 rats were inoculated in vivo unilaterally in the caudate nucleus in the brain with malignant RG 2 glioma cells. By 3 weeks a tumor with a diameter of 3-6 mm normally develops. Ten animals which survived the repeated periods of anesthesia and thallium (Tl) injections (intratumorally three times of 201Tl, 15-23 days after inoculation) showed a prolonged retention of radioa

Dynamics of the caring family

When several individuals simultaneously provide for offspring, as in families, the effort of any one individual will depend on the efforts of the other family members. This conflict of interest among family members is made more complicated by their relatedness because relatives share genetic interest to some degree. The conflict resolution will also be influenced by the differences in reproductive

Structural evidence for a ligand coordination switch in liver alcohol dehydrogenase

The use of substrate analogues as inhibitors provides a way to understand and manipulate enzyme function. Here we report two 1 A resolution crystal structures of liver alcohol dehydrogenase in complex with NADH and two inhibitors: dimethyl sulfoxide and isobutyramide. Both structures present a dynamic state of inhibition. In the dimethyl sulfoxide complex structure, the inhibitor is caught in tran

Arthritogenic dsRNA is present in synovial fluid from rheumatoid arthritis patients with an erosive disease course

Viruses may be part of the pathogenesis of rheumatoid arthritis (RA). Double stranded RNA (dsRNA) is a prototypic viral conformation of nucleic acid that is highly arthritogenic in mice. Therefore, we developed an ELISA to detect dsRNA in sera and synovial fluids (SF) in RA patients and in osteoarthritic controls. The developed ELISA recognizes picogram levels of viral or synthetic dsRNA but shows

Development and applications of laser spectroscopic techniques related to combustion diagnostics

Thanks to features as non-intrusiveness combined with high spatial and temporal resolution, various laser diagnostic techniques have during the last decades become of utmost importance for characterization of combustion related phenomena. In the following presentation some further development of the techniques will be highlighted aiming at a) surface temperatures using Thermographic Phosphors, TP

Lactotetraosylceramide, a novel glycosphingolipid receptor for Helicobacter pylori, present in human gastric epithelium

The binding of Helicobacter pylori to glycosphingolipids was examined by binding of 35S-labeled bacteria to glycosphingolipids on thin-layer chromatograms. In addition to previously reported binding specificities, a selective binding to a non-acid tetraglycosylceramide of human meconium was found. This H. pylori binding glycosphingolipid was isolated and, on the basis of mass spectrometry, proton

Pathogen infection and selection on fertilization success in Cucumis sativus

We investigated whether resistant pollen genotypes can be selected for when the maternal plants are infected and whether infection can result to changes in the pistil nutrient level influencing reproductive outcome. Both resistance and susceptibility come with costs that may affect pre- and post-fertilization reproductive functions. We performed the study by crossing zucchini yellow mosaic virus r

Arterial rupture after microwave-induced hyperthermia and radiotherapy. With reference to two patients treated for recurrence in previously operated and irradiated areas

Two patients who developed frank arterial bleeding after combined microwave-induced hyperthermia and radiotherapy are described. One patient received re-irradiation and hyperthermia for recurrent metastatic neck nodes of a mesopharyngeal carcinoma. Full course radiotherapy had been given 6 years previously and a right-sided radical neck node dissection had been performed 4 months earlier because o

Uniform and position-controlled InAs nanowires on 2('') Si substrates for transistor applications.

This study presents a novel approach for indirect integration of InAs nanowires on 2('') Si substrates. We have investigated and developed epitaxial growth of InAs nanowires on 2('') Si substrates via the introduction of a thin yet high-quality InAs epitaxial layer grown by metalorganic vapor phase epitaxy. We demonstrate well-aligned nanowire growth including precise position and diameter control

Simultaneous patch testing with fragrance markers in the baseline series and the ingredients of fragrance mixes : An update from southern Sweden

BACKGROUND: Regularly updating the prevalence of fragrance contact allergy (CA) is important. Patch testing with fragrance markers in the baseline series and the ingredients of fragrance mixes (FMs) is still debated.OBJECTIVES: To update the prevalence and clinical characteristics of patients with fragrance CA. To establish the results of patch testing with individual allergens of FMs.METHODS: A r

Shot-to-shot flat-field correction at X-ray free-electron lasers

X-ray free-electron lasers (XFELs) provide high-brilliance pulses, which offer unique opportunities for coherent X-ray imaging techniques, such as in-line holography. One of the fundamental steps to process in-line holographic data is flat-field correction, which mitigates imaging artifacts and, in turn, enables phase reconstructions. However, conventional flat-field correction approaches cannot c

Anisotropic Flow of Charged Particles in Pb-Pb Collisions at sNN =5.02 TeV

We report the first results of elliptic (v2), triangular (v3), and quadrangular (v4) flow of charged particles in Pb-Pb collisions at a center-of-mass energy per nucleon pair of √sNN=5.02 TeV with the ALICE detector at the CERN Large Hadron Collider. The measurements are performed in the central pseudorapidity region |η|<0.8 and for the transverse momentum range 0.2

Landscape and management influences on smallholder agroforestry yields show shifts during a climate shock

Sustaining yields for smallholder perennial agriculture under a rapidly changing climate regime may require consideration of landscape features and on-farm management decisions in tandem. Optimising landscape and management may not be possible for maximising yields in any one year but maintaining heterogeneous landscapes could be an important climate adaptation strategy. In this study, we observed

Process-evaluation of forest aerosol-cloud-climate feedback shows clear evidence from observations and large uncertainty in models

Natural aerosol feedbacks are expected to become more important in the future, as anthropogenic aerosol emissions decrease due to air quality policy. One such feedback is initiated by the increase in biogenic volatile organic compound (BVOC) emissions with higher temperatures, leading to higher secondary organic aerosol (SOA) production and a cooling of the surface via impacts on cloud radiative p