REPAIRtoire—a database of DNA repair pathways

REPAIRtoire is the first comprehensive database resource for systems biology of DNA damage and repair. The database collects and organizes the following types of information: (i) DNA damage linked to environmental mutagenic and cytotoxic agents, (ii) pathways comprising individual processes and enzymatic reactions involved in the removal of damage, (iii) proteins participating in DNA repair and (iv) diseases correlated with mutations in genes encoding DNA repair proteins. REPAIRtoire provides also links to publications and external databases. REPAIRtoire contains information about eight main DNA damage checkpoint, repair and tolerance pathways: DNA damage signaling, direct reversal repair, base excision repair, nucleotide excision repair, mismatch repair, homologous recombination repair, nonhomologous end-joining and translesion synthesis. The pathway/protein dataset is currently limited to three model organisms: Escherichia coli, Saccharomyces cerevisiae and Homo sapiens. The DNA repair and tolerance pathways are represented as graphs and in tabular form with descriptions of each repair step and corresponding proteins, and individual entries are cross-referenced to supporting literature and primary databases. REPAIRtoire can be queried by the name of pathway, protein, enzymatic complex, damage and disease. In addition, a tool for drawing custom DNA–protein complexes is available online. REPAIRtoire is freely available and can be accessed at http://repairtoire.genesilico.pl/

BIN1 Localizes the L-Type Calcium Channel to Cardiac T-Tubules

Cardiac tubular-like membrane invaginations contain the membrane scaffolding protein BIN1, which tethers dynamic microtubules that deliver calcium channels directly to T-tubule membrane

Characterisation and validation of insertions and deletions in 173 patient exomes.

Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders. While in rare disorders this allowed the identification of novel causal genes, the missing heritability paradox in complex diseases remains so far elusive. Despite rapid advances of next-generation sequencing, both the technology and the analysis of the data it produces are in its infancy. At present there is abundant knowledge pertaining to the role of rare single nucleotide variants (SNVs) in rare disorders and of common SNVs in common disorders. Although the 1,000 genome project has clearly highlighted the prevalence of rare variants and more complex variants (e.g. insertions, deletions), their role in disease is as yet far from elucidated.We set out to analyse the properties of sequence variants identified in a comprehensive collection of exome re-sequencing studies performed on samples from patients affected by a broad range of complex and rare diseases (N = 173). Given the known potential for Loss of Function (LoF) variants to be false positive, we performed an extensive validation of the common, rare and private LoF variants identified, which indicated that most of the private and rare variants identified were indeed true, while common novel variants had a significantly higher false positive rate. Our results indicated a strong enrichment of very low-frequency insertion/deletion variants, so far under-investigated, which might be difficult to capture with low coverage and imputation approaches and for which most of study designs would be under-powered. These insertions and deletions might play a significant role in disease genetics, contributing specifically to the underlining rare and private variation predicted to be discovered through next generation sequencing

Enthalpy of solvation correlations for organic solutes and gases dissolved in 1-propanol and tetrahydrofuran

This article discusses the enthalpy of solvation correlations for organic solutes and gases dissolved in 1-propanol and tetrahydrofuran

Charakterystyka chemiczna ekotypow dziurawca zwyczajnego [Hypericum perforatum L.] z kilku stanowisk na terenie Polski

Przedmiotem badań było 9 ekotypów dziurawca zwyczajnego (Hypericum perforatum L.) z terenu Polski. Badane ekotypy różniły się pod względem zawartości olejku eterycznego (0,08-0,22%) oraz jego składem chemicznym. Zawartość flawonoidów w zielu wahała się od od 0,85 do 2,99%, a hiperycyny od 13,5 do 33,5 mg%.Nine ecological types of Hypericum perforatum L. from different wild hibitats localized in Poland were investigated. The habitats were different from the geographical and ecological points of view. The contents of essential oil ranged from 0.08 to 0.22%. There were also distinct differences in chemical composition of essential oil. The content of flavonoides fluctuated within 0.85-2.99% while the contents of hipericin within 13.5-33.5mg%

Wstepna ocena wspolczynnika zapadalnosci na swierzb w populacji ludzkiej

We have analysed all the reported and diagnosed cases of scabies in the years 1999-2000 per 100000 inhabitants in the Łódź voivodeship. The data was obtained from the Regional Administration Unit for the Control of Epidemics and Hygiene Promotion in Łódź. The incidence in Łódź voivodeship was found to be twice as high (89,0) as that in Poland (44.0). The highest incidence in Łódź voivodeship was found in Radomsko (268,0), Pabianice (149,0) and Kutno (148.5) districts. The number or new cases registered in 1999-2000 did not increase in the districts: Łęczyca, Radomsko, Łowicz and Bełchatów

The morphological and fitochemical variability of Thymus pulegioides L. from Podlasie

Celem badań była ocena zmienności cech morfologicznych i chemicznych macierzanki zwyczajnej występującej na stanowiskach naturalnych południowo-wschodniej Polski. Oceniono cztery populacje z rejonu Podlasia. Pobrano próbki surowca, które oceniono pod względem chemicznym, tj. określono procentową zawartości olejku eterycznego i jego skład chemiczny oraz zawartość fławonoidów. Nie stwierdzono istotnych różnic odnośnie zawartości olejku eterycznego i flawonoidów w zielu. Badane populacje różniły się pod względem składu jakościowego olejku.The aim of the study was to investigate the morphological and chemical variability of Thymus pulegioides L. growing wild in north-east Poland. Four collection sites in the area of the Podlasie region were characterized. The samples of raw materials from the stands were collected, dried and chemically analysed The content of essential oil and its chemical composition as well the content of flavonoids were determined. There were no distinct differences in the content of essential oil and flavonoids. Chemical composition of essential oil of populations was differentiated

Some morphological and chemical characteristics of oregano (Origanum vulgare L.) in Latvia

ArticleBy European Cooperative Programme for Plant Genetic Resources (ECPGR), oregano (Origanum vulgare L.) is included on the list of priority species of medicinal and aromatic plants. In Latvia, it is important to cultivate oregano for keeping biodiversity and for meeting the needs of medicinal plant`s production. 44 accessions of oregano from the ex situ collection of genetic resources of medicinal and aromatic plants, attached to the Latvia University of Life Sciences and Technologies, were analysed during 2012–2014. Plants` morphological characteristics were described by the Draft Descriptor List of oregano, using the methodology of ECPGR. The essential oil was isolated using solvent-free microwave extraction method and analysed by gas chromatograph Hewlett Packard 6890 equipped with flame ionization detector FID and polar capillary column HP 20M. The results showed, that oregano accessions differ morphologically. Accessions are characterized with dense branching and the possibility to create big biomass. Local oregano is poor in content of essential oil, but 17 compounds were identified as the principal. As well as the correlation between the content of essential oil and colour of flowers in full flowering stage was observed – it is higher for accessions with dark flowers. Also, the influence of meteorological conditions per vegetation period (year) on chemical characteristics was significant (p < 0.05)