Determining the impact of unknown individuals in criminality using network analysis of DNA matches.

Criminal offenders missing from police files limit the capacity to reconstruct criminal networks for criminological research and operational purposes. Recent studies show that forensic DNA databanks offer potential to address this problem, through large-scale analysis of DNA matches, many of which involve unidentified offenders. Applying social network analysis (SNA) to 18 years of DNA match data from Québec, Canada, we found that 1400 unknowns do not occupy more marginal positions in the network than 13,000 known offenders, and explain up to 18% of SNA values (e.

Historical human remains identification through maternal and paternal genetic signatures in a founder population with extensive genealogical record.

Objectives: We describe a method to identify human remains excavated from unmarked graves in historical Québec cemeteries by combining parental-lineage genetic markers with the whole-population genealogy of Québec contained in the BALSAC database.

Materials And Methods: The remains of six men were exhumed from four historical cemeteries in the province of Québec, Canada. DNA was extracted from the remains and genotyped to reveal their mitochondrial and Y-chromosome haplotypes, which were compared to a collection of haplotypes of genealogically-anchored modern volunteers.

STRmix put to the test: 300 000 non-contributor profiles compared to four-contributor DNA mixtures and the impact of replicates.

Probabilistic genotyping approaches are increasingly used for the interpretation of DNA mixtures. To explore the specificity of one of these systems (STRmix), we conducted an extensive study using 24 complex mixtures: all were known or apparent 4-person mixtures with at least one contributor representing less than 20% of total DNA, and all mixtures had at least one contributor with suboptimal DNA quantity. Those mixtures were either generated in-house or from casework.

Investigating Gene-Gene and Gene-Environment Interactions in the Association Between Overnutrition and Obesity-Related Phenotypes.

Animal studies suggested that , , and genes could be involved in the association between overnutrition and obesity. This study aims to investigate interactions involving these genes and macronutrient intakes affecting obesity-related phenotypes. We used a traditional statistical method, logistic regression, and compared it to alternative statistical method, multifactor dimensionality reduction (MDR) and penalized logistic regression (PLR), to better detect genes/environment interactions in the Toronto Nutrigenomics and Health Study ( = 1639) using dichotomized body mass index (BMI) and waist circumference as obesity-related phenotypes.

Modeling gene-environment interactions in longitudinal family studies: a comparison of methods and their application to the association between the IGF pathway and childhood obesity.

Background: The interactive effect of the IGF pathway genes with the environment may contribute to childhood obesity. Such gene-environment interactions can take on complex forms. Detecting those relationships using longitudinal family studies requires simultaneously accounting for correlations within individuals and families.

Photophysics of a Ruthenium Complex with a π-Extended Dipyridophenazine Ligand for DNA Quadruplex Labeling.

The light-switch mechanism of the complex [Ru(bpy)(Br-dpqp)](PF) (1, bpy = 2,2'-bipyridine, Br-dpqp = 12-bromo-14-ethoxydipyrido[3,2- a:2',3'- c]quinolino[3,2- h]phenazine), i.e., a light-up probe for the selective labeling of G-quadruplexes, is investigated by time-resolved transient absorption and emission spectroscopy.

An artificial photosynthetic system for photoaccumulation of two electrons on a fused dipyridophenazine (dppz)-pyridoquinolinone ligand.

Increasing the efficiency of molecular artificial photosynthetic systems is mandatory for the construction of functional devices for solar fuel production. Decoupling the light-induced charge separation steps from the catalytic process is a promising strategy, which can be achieved thanks to the introduction of suitable electron relay units performing charge accumulation. We report here on a novel ruthenium tris-diimine complex able to temporarily store two electrons on a fused dipyridophenazine-pyridoquinolinone π-extended ligand upon visible-light irradiation in the presence of a sacrificial electron donor.

Selective Luminescent Labeling of DNA and RNA Quadruplexes by π-Extended Ruthenium Light-Up Probes.

A series of Ru complexes exhibiting π-extended, acridine-based ancillary chelating heterocycles display high affinity and selectivity for DNA and RNA quadruplexes. The most promising candidates (3, 4) possess remarkable light-up luminophore properties (up to 330-fold luminescence enhancement upon interaction with quadruplexes), enabling them to discriminate quadruplexes from genomic DNA owing to a photochemical mechanism involving DNA protection against non-radiative decay (DAND), thus deviating from the other complexes of this series of ligands that exhibit an excited-state intramolecular proton transfer (ESIPT) that quenches their luminescence. The in vitro and preliminary in cellulo results shown here confirm the interest of this new family of fluorophores as invaluable molecular tools to detect G-quadruplexes in cells.

Resonance Raman Study of New Pyrrole-Anchoring Dyes for NiO-Sensitized Solar Cells.

Three dyes for p-type dye-sensitised solar cells containing a novel doubly anchored pyrrole donor group were synthesised and their solar cell performances were evaluated. Dye 1 was comprised of a phenyl-thiophene linker and a maleonitrile acceptor, which has been established as an effective motif in other push-pull dyes. Two boron dipyrromethane analogues, dyes 2 and 3, were made with different linker groups to compare their effect on the behaviour of these dyes adsorbed onto nickel oxide (dye|NiO) under illumination.

Synthesis of three series of ruthenium tris-diimine complexes containing acridine-based π-extended ligands using an efficient "chemistry on the complex" approach.

The preparation and characterization of three series of novel ruthenium(ii) complexes are reported, each series differing by the nature of the ancillary ligands (2,2'-bipyridine - bpy, 1,10-phenanthroline - phen or 1,4,5,8-tetraazaphenanthrene - TAP). The third ligand was either the heptacyclic heterocycle dipyrido[3,2-a:2',3'-c]quinolino[3,2-h]phenazine (dpqp) substituted at position 12 by an hydroxyl (oxo), 2,2-dimethoxyethylamine (DMEA) or halogeno (Cl or Br) substituent, or the octacyclic dipyrido[3,2-a:2',3'-c]pyrido[2,3,4-de]quinolino[3,2-h]phenazine (dppqp), prepared by a multi-step "chemistry on the complex" strategy from [RuL(oxo-dpqp)](PF). The three steps, halogenation, substitution by a dimethoxyethylamino group and cyclization in trifluoroacetic acid, were performed in reasonable to high yields depending on the nature of the ancillary ligands.

Correction: Design and characterisation of bodipy sensitizers for dye-sensitized NiO solar cells.

Correction for 'Design and characterisation of bodipy sensitizers for dye-sensitized NiO solar cells' by Gareth H. Summers et al., Phys.

Design and characterisation of bodipy sensitizers for dye-sensitized NiO solar cells.

A series of photosensitizers for NiO-based dye-sensitized solar cells is presented. Three model compounds containing a triphenylamine donor appended to a boron dipyrromethene (bodipy) chromophore have been successfully prepared and characterised using emission spectroscopy, electrochemistry and spectroelectrochemistry, to ultimately direct the design of dyes with more complex structures. Carboxylic acid anchoring groups and thiophene spacers were appended to the model compounds to provide five dyes which were adsorbed onto NiO and integrated into dye-sensitized solar cells.

A Comparison of Statistical Methods for the Discovery of Genetic Risk Factors Using Longitudinal Family Study Designs.

The etiology of immune-related diseases or traits is often complex, involving many genetic and environmental factors and their interactions. While methodological approaches focusing on an outcome measured at one time point have succeeded in identifying genetic factors involved in immune-related traits, they fail to capture complex disease mechanisms that fluctuate over time. It is increasingly recognized that longitudinal studies, where an outcome is measured at multiple time points, have great potential to shed light on complex disease mechanisms involving genetic factors.

GENLIB: an R package for the analysis of genealogical data.

Background: Founder populations have an important role in the study of genetic diseases. Access to detailed genealogical records is often one of their advantages. These genealogical data provide unique information for researchers in evolutionary and population genetics, demography and genetic epidemiology.

Unexpected drastic decrease in the excited-state electronic communication between porphyrin chromophores covalently linked by a palladium(II) bridge.

A dyad built up of a zinc(II) porphyrin and the corresponding free base, [Zn-Fb], fused to N-heterocyclic carbene (NHCs) ligands, respectively acting as singlet energy donor and acceptor, and a bridging trans-PdI2 unit, along with the corresponding [Zn-Zn] and [Fb-Fb] dimers were prepared and investigated by absorption and emission spectroscopy and density functional computations. Despite favorable structural and spectroscopic parameters, unexpectedly slow singlet energy transfer rates are measured in comparison with the predicted values by the Förster theory and those observed for other structurally related dyads. This observation is rationalized by the lack of large molecular orbital (MO) overlaps between the frontier MOs of the donor and acceptor, thus preventing a double electron exchange through the trans-PdI2 bridge, and by an electronic shielding induced by the presence of this same linker preventing the two chromophores to fully interact via their transition dipoles.

The catalytic function of hormone-sensitive lipase is essential for fertility in male mice.

In male mice, deficiency of hormone sensitive lipase (HSL, Lipe gene, E.C.3.

X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations.

The genetic diversity within an 11 kb segment of the MTMR8 gene in a sample of 111 sub-Saharan and 49 non-African X chromosomes was investigated to assess the early evolutionary history of sub-Saharan Africans and the out-of-Africa expansion. The analyses revealed a complex genetic structure of the Africans that contributed to the emergence of modern humans. We observed partitioning of two thirds of old lineages among southern, west/central and east African populations indicating ancient population stratification predating the out of Africa migration.

Promoting charge-separation in p-type dye-sensitized solar cells using bodipy.

The viability of applying bodipy sensitisers to NiO-based p-type dye-sensitised solar cells (p-DSCs) has been successfully demonstrated. The triphenylamine donor-bodipy acceptor design promotes a long-lived charge-separated state which is difficult to achieve with NiO-based devices. The current was above 3 mA cm(-2) and the IPCE was 28%.

Porphyrins fused to N-heterocyclic carbenes (NHCs): modulation of the electronic and catalytic properties of NHCs by the central metal of the porphyrin.

We report herein a detailed study of the use of porphyrins fused to imidazolium salts as precursors of N-heterocyclic carbene ligands 1 M. Rhodium(I) complexes 6 M-9 M were prepared by using 1 M ligands with different metal cations in the inner core of the porphyrin (M=Ni(II) , Zn(II) , Mn(III) , Al(III) , 2H). The electronic properties of the corresponding N-heterocyclic carbene ligands were investigated by monitoring the spectroscopic changes occurring in the cod and CO ancillary ligands of [(1 M)Rh(cod)Cl] and [(1 M)Rh(CO)2 Cl] complexes (cod=1,5-cyclooctadiene).

Native American admixture in the Quebec founder population.

For years, studies of founder populations and genetic isolates represented the mainstream of genetic mapping in the effort to target genetic defects causing Mendelian disorders. The genetic homogeneity of such populations as well as relatively homogeneous environmental exposures were also seen as primary advantages in studies of genetic susceptibility loci that underlie complex diseases. European colonization of the St-Lawrence Valley by a small number of settlers, mainly from France, resulted in a founder effect reflected by the appearance of a number of population-specific disease-causing mutations in Quebec.

[Malignant biliary obstruction, general review and clinical practice].

This review recalls the clinical, anatomic, physiopathological and etiological features necessary in the management of patients with neoplastic bile duct obstruction and exposes the current practice concerning endoscopic and radiologic palliative drainage. Clinical practice according to the clinical situations is explained. This review exposes complications management for patients having undergone an endoscopic or percutaneous drainage of the biliary ducts, the particular case of periportal stenosis, the respective indications of endoscopic and transhepatic percutaneous drainage, usual immediate evolution according to the type of the stenosis and the technique used as well as the management in case of stent obstruction.

Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.

Identifying and understanding the impact of gene regulatory variation is of considerable importance in evolutionary and medical genetics; such variants are thought to be responsible for human-specific adaptation and to have an important role in genetic disease. Regulatory variation in cis is readily detected in individuals showing uneven expression of a transcript from its two allelic copies, an observation referred to as allelic imbalance (AI). Identifying individuals exhibiting AI allows mapping of regulatory DNA regions and the potential to identify the underlying causal genetic variant(s).

Synthesis of stable free base secochlorins and their corresponding metal complexes from meso-tetraarylporphyrin derivatives.

Cleavage reactions of 2,3-diamino-meso-tetraarylporphyrins and meso-tetraarylporphyrins fused to imidazole rings afforded secochlorins including stable free base derivatives.

Stepwise fusion of porphyrin β,β'-pyrrolic positions to imidazole rings.

A strategy for the stepwise annulation of pyrrolic rings of a porphyrin to imidazole rings is presented. Mono(imidazole), Janus and corner bis(imidazole), T-shaped tris(imidazole), and tetrakis(imidazole) porphyrins have been synthesized and characterized.