Microscopic Theory of Josephson Mesoscopic Constrictions

We present a microscopic theory for the d.c. Josephson effect in model mesoscopic constrictions. Our method is based on a non-equilibrium Green function formalism which allows for a self-consistent determination of the order parameter profile along the constriction. The various regimes defined by the different length scales (Fermi wavelength $\lambda_F$, coherence length $\xi_0$ and constriction length $L_C$) can be analyzed, including the case where all these lengths are comparable. For the case $\lambda_F \tilde{<} (L_C,\xi_0)$ phase oscillations with spatial period $\lambda_F/2$ can be observed. In the case of $L_C>\xi_0$ solutions with a phase-slip center inside the constriction can be found, in agreement with previous phenomenological theories.Comment: 4 pages (RevTex 3.0), 3 postscript figures available upon request, 312456-C

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 candidate genes in 6600 Crohn disease (CD) cases and 5500 controls, and show with burden tests that they include likely causative genes. Our analyses indicate that ≥10-fold larger sample sizes will be required to demonstrate the causality of individual genes using this approach

Microphotometrical image analysis of the subtelomeric region of T-banded endoreduplicated chromosomes of Chinese hamster ovary cells

Microphotometrical scanning and computer graphic image analysis were carried out to detect the distribution of chromatin densities in subtelomeric segments of T-banded endoreduplicated chromosomes of Chinese hamster ovary (CHO) cells. Chromatin density patterns detected with this method were similar to those previously found in CHO and normal human chromosomes. The highest chromatin densities were considered as marker segments which led to the detection of reciprocal changes of position in endoreduplicated chromosomes during cell spreading on the slide. The problem of the subtelomeric T-banding density patterns found in the endoreduplicated chromosomes and their relation to the structure and molecular composition of this region is briefly discussed.<br>Empregaram-se técnicas de escaneamento microfotométrico e análise de imagem gráfica computadorizada para detectar a distribuição de densidades de cromatina em segmentos subteloméricos de cromossomos endo-reduplicados com bandeamento T de células do ovário do hamster chinês (CHO). Os padrões de densidade de cromatina detectados com este método foram similares aos previamente encontrados em CHO e cromossomos humanos normais. As densidades de cromatina mais elevadas foram consideradas como segmentos marcadores que levaram à detecção de alterações recíprocas de posição de cromossomos endo-reduplicados durante o espalhamento das células na lâmina. O problema dos padrões de densidade de bandeamento T subteloméricos encontrados nos cromossomos endo-reduplicados e sua relação com a estrutura e a composição molecular desta região é discutido brevemente