Varia

in Flux: Cahiers Scientifiques Internationaux Réseaux et Territoires (2020), 121

Coordination d'un numéro spécial Varia avec JB Bahers en tant que responsables de la rubrique Varia de Flux

Variabilité individuelle d’encodage spatial

in Flieller, André (Ed.) Questions de psychologie différentielle (2001)

Variability-Aware Design of Space Systems: Variability Modelling, Configuration Workflow and Research Directions

in Proceedings of VAMOS 22 (2022, February)

The Variable Access to Reception Conditions for Asylum Seekers in the EU: Protecting Fundamental Rights or Preventing Long-Term Integration?

Presentation (2018, May 25)

Variables associated to aging well in poor Peruvian older adults

Poster (2015)

A variant of the differential gravimetry approach for low-low satellite-to-satellite tracking based on angular velocities

Scientific Conference (2013, September)

Variant Score Ranker - a web application for intuitive missense variant prioritization

in Bioinformatics (2019)

The correct classification of missense variants as benign or pathogenic remains challenging. Pathogenic variants are expected to have higher deleterious prediction scores than benign variants in the same ... [more ▼]

The correct classification of missense variants as benign or pathogenic remains challenging. Pathogenic variants are expected to have higher deleterious prediction scores than benign variants in the same gene. However, most of the existing variant annotation tools do not reference the score range of benign population variants on gene level. Here, we present a web-application, Variant Score Ranker, which enables users to rapidly annotate variants and perform gene-specific variant score ranking on the population level. We also provide an intuitive example of how gene- and population-calibrated variant ranking scores can improve epilepsy variant prioritization. [less ▲]

Variants in Miro1 cause alterations of ER-mitochondria contact sites in fibroblasts from Parkinson's disease patients

in Journal of Clinical Medicine (2019)

Background: Although most cases of Parkinson´s disease (PD) are idiopathic with unknown cause, an increasing number of genes and genetic risk factors have been discovered that play a role in PD ... [more ▼]

Background: Although most cases of Parkinson´s disease (PD) are idiopathic with unknown cause, an increasing number of genes and genetic risk factors have been discovered that play a role in PD pathogenesis. Many of the PD‐associated proteins are involved in mitochondrial quality control, e.g., PINK1, Parkin, and LRRK2, which were recently identified as regulators of mitochondrial‐endoplasmic reticulum (ER) contact sites (MERCs) linking mitochondrial homeostasis to intracellular calcium handling. In this context, Miro1 is increasingly recognized to play a role in PD pathology. Recently, we identified the first PD patients carrying mutations in RHOT1, the gene coding for Miro1. Here, we describe two novel RHOT1 mutations identified in two PD patients and the characterization of the cellular phenotypes. Methods: Using whole exome sequencing we identified two PD patients carrying heterozygous mutations leading to the amino acid exchanges T351A and T610A in Miro1. We analyzed calcium homeostasis and MERCs in detail by live cell imaging and immunocytochemistry in patient‐derived fibroblasts. Results: We show that fibroblasts expressing mutant T351A or T610A Miro1 display impaired calcium homeostasis and a reduced amount of MERCs. All fibroblast lines from patients with pathogenic variants in Miro1, revealed alterations of the structure of MERCs. Conclusion: Our data suggest that Miro1 is important for the regulation of the structure and function of MERCs. Moreover, our study supports the role of MERCs in the pathogenesis of PD and further establishes variants in RHOT1 as rare genetic risk factors for neurodegeneration. [less ▲]

Varianz und Homogenisierung. Soziopragmatische Aspekte serieller Quellen der Frühen Neuzeit.

in Petersen, Niels; Gleba, Gudrun (Eds.) Wirtschafts- und Rechnungsbücher des Mittelalters und der Frühen Neuzeit. (2015)

Variation and trends in incidence of childhood diabetes in Europe

in Lancet (2000), 355

BACKGROUND: To study the epidemiology of childhood-onset type 1 insulin-dependent diabetes in Europe, the EURODIAB collaborative group established in 1988 prospective geographically-defined registers of ... [more ▼]

BACKGROUND: To study the epidemiology of childhood-onset type 1 insulin-dependent diabetes in Europe, the EURODIAB collaborative group established in 1988 prospective geographically-defined registers of new cases diagnosed under 15 years of age. This report is based on 16 362 cases registered during the period 1989-94 by 44 centres representing most European countries and Israel and covering a population of about 28 million children. METHODS: Multiple sources of ascertainment were used in most centres to validate the completeness of registration by the capture-recapture method. Trends in incidence during the period were analysed by Poisson regression, the data from centres within each country being pooled. FINDINGS: The standardised average annual incidence rate during the period 1989-94 ranged from 3.2 cases per 100000 per year in the Former Yugoslav Republic of Macedonia to 40.2 cases per 100000 per year in two regions of Finland. By pooling over all centres, the annual rate of increase in incidence was 3.4% (95% CI 2.5-4.4%), but in some central European countries it was more rapid than this. Pooled over centres and sexes, the rates of increase were 6.3% (4.1-8.5%) for children aged 0-4 years, 3.1% (1.5-4.8%) for 5-9 years, and 2.4% (1.0-3.8%) for 10-14 years. INTERPRETATION: The results confirm a very wide range of incidence rates within Europe and show that the increase in incidence during the period varied from country to country. The rapid rate of increase in children aged under 5 years is of particular concern. PMID: 10752702 [PubMed - indexed for MEDLI [less ▲]