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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and ident

piggyBac-based insertional mutagenesis in the presence of stably integrated P elements in Drosophila

P element-mediated mutagenesis has been used to disrupt an estimated 25% of genes essential for Drosophila adult viability. Mutation of all genes in the fly genome, however, poses a problem, because P elements show significant hotspots of integration. In addition, advanced screening scenarios often require the use of P element-based tools like the generation of germ-line mosaics using FLP recombin

Diffusion measurement in gels

Methods for measuring diffusion coefficients in gels are reviewed, and their capacities, limitations and requirements are briefly discussed. With four of these methods, i.e., the diaphragm cell, uptake/release from beads, holographic laser interferometry and nuclear magnetic resonance (FT-PGSE), a comparison is made with regard to accuracy and precision. The comparison is based on a number of stud

Nonimmunodominant regions are effective as building blocks in a streptococcal fusion protein vaccine.

Identification of antigens that elicit protective immunity is essential for effective vaccine development. We investigated the related surface proteins of group B Streptococcus, Rib and alpha, as potential vaccine candidates. Paradoxically, nonimmunodominant regions proved to be of particular interest as vaccine components. Mouse antibodies elicited by Rib and alpha were directed almost exclusivel

Assessment of the potential biomass supply in Europe using a resource-focused approach

This paper analyses the potential biomass Supply in the 15 EU countries (EU15), 8 new member states and 2 candidate countries (ACC10), plus Belarus and the Ukraine. The objective of this study is to make a more detailed assessment of the potential in Europe than previously undertaken. For this purpose five scenarios were designed to describe the short-, medium- and long-term potential of biomass f

Below-ground process responses to elevated CO2 and temperature: a discussion of observations, measurement methods, and models

Rising atmospheric CO2 and temperatures are probably altering ecosystem carbon cycling, causing both positive and negative feedbacks to climate. Below-ground processes play a key role in the global carbon (C) cycle because they regulate storage of large quantities of C, and are potentially very sensitive to direct and indirect effects of elevated CO2 and temperature. Soil organic matter pools, roo

Arginine Binding Motifs: Design and Synthesis of Galactose-Derived Arginine Tweezers as Galectin-3 Inhibitors.

Anionic O2 derivatives of methyl 3-deoxy-3-(4-methylbenzamido)-1-thio-beta- d-galactopyranoside have been synthesized as inhibitors against galectin-3. The sulfate, H-phosphonate, and benzyl phosphate derivatives showed an increased affinity as compared to the parent unsubstituted galactopyranoside. Modeling revealed arginine-144 being pinched by the C3 benzamide and O2 anionic substituents in tha

From the fetal liver to spleen and gut: the highway to natural antibody

The film of sIgA lining the intestinal epithelium plays a role in the regulation of the commensal microflora and prevention of pathogen invasion. We show that, in the absence of intentional immunization, all sIgA in the gut is produced by B-1a B cells. We also show that B-1a B cells and sIgA derive from lineage-negative precursors found in the fetal liver and located in the spleen after birth. The

Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura (TTP) is associated with ADAMTS13 mutations. The major site of ADAMTS13 synthesis is the liver. Expression in other tissues, and in TTP, has not been shown. In this study, ADAMTS13 protein expression was investigated in normal kidney and in renal tissue from two TTP patients, with a compound heterozygous mutation (P353L and P457L) and a homozygous mut

Gene expressions of small leucine-rich repeat proteoglycans and fibulin-5 are decreased in pelvic organ prolapse

Few studies are performed on the sustainability of the pelvic floor extracellular matrix important for preventing development of pelvic organ prolapse (POP). Collagens I and III, the elastin-associated proteins fibrillin-1 and fibulin-5 and the small leucine-rich repeat proteoglycans (SLRPs) decorin, lumican and fibromodulin are involved in giving the tissue its mechanical properties. Para-urethra

Adsorption of cationic cellulose derivative/anionic surfactant complexes onto solid surfaces. II. Hydrophobized silica surfaces

The effect of the anionic surfactant SDS (sodium dodecyl sulfate) on the adsorption behavior of cationic hydroxyethyl cellulose (Polymer JR-400) and hydrophobically modified cationic cellulose (Quatrisoft LM-200) at hydrophobized silica has been investigated by null ellipsometry and compared with the previous data for adsorption onto hydrophilic silica surfaces. The adsorbed amount of LM-200 is fo

Anticholinergic drug use for overactive bladder in Sweden: a nationwide pharmacoepidemiological study

Nationwide use and costs of anticholinergic drug for overactive bladder are unknown. We performed a nationwide study based on the Swedish Register on Prescribed Pharmaceuticals. From 2000 to 2007, there was a 68.8% increase in dispensed anticholinergic drugs in a population of 9 million. More than 93 million DDDs (calculated average maintenance dose per day) of anticholinergic drugs were dispensed

Radiographic measurements of severe temporomandibular joint destruction at cervical radiography. Designed for evaluation in rheumatoid arthritis

Radiological examinations of the temporomandibular joints are not so often performed in patients with rheumatoid arthritis (RA). However, greater abnormalities of the mandibular head and neck may be evaluated at cervical radiography. With a new method, where the perpendicular distance from the palato-occipital line to the mandibular angle was measured, normal values of the distance or of ramal hei

Sexually Transmitted Diseases and Reproductive History in Women with Experience of Casual Travel Sex Abroad

Background: The objective of this study was to determine whether the frequency of sexually transmitted diseases (STDs) and some reproductive events in women with experience of casual travel sex (CTS) abroad with previously unknown male partners differed when compared to women lacking such experience. Methods: Nine hundred and ninety-six women seeking contraceptive advice from two family planning c

Pair-wise comparisons versus planning game partitioning-experiments on requirements prioritisation techniques

The process of selecting the right set of requirements for a product release is dependent on how well the organisation succeeds in prioritising the requirements candidates. This paper describes two consecutive controlled experiments comparing different requirements prioritisation techniques with the objective of understanding differences in time-consumption, ease of use and accuracy. The first exp