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showing 10 items of 10618 documents
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
2017
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, an…
The Transcription Factor Promyelocytic Leukemia Zinc Finger Protein Is Associated With Expression of Liver‐Homing Receptors on Human Blood CD56bright…
2020
The transcription factor promyelocytic leukemia zinc finger protein (PLZF) is involved in the development of natural killer (NK) cells and innate lymphoid cells, including liver‐resident NK cells in mice. In human NK cells, the role of PLZF in liver residency is still unknown. Expression of PLZF in matched human peripheral blood‐ and liver‐derived NK cells and the association of PLZF expression with surface molecules and transcription factors relevant for tissue residency were investigated using multiparameter flow cytometry and assessing single‐cell messenger RNA (mRNA) levels. Intrahepatic cluster of differentiation (CD)56bright NK cells expressed significantly higher levels of PLZF than …
Use of hospital and amubutory data in assessment of screnning, follow-up and complications of diabetes mellitus
2017
Diabetes is a priority health target worldwide. Access to conclusive data is equally a priority in order to establish clear objectives and to implement coordinated action. Medico-administrative databases are being used more and more frequently for this purpose. We set out to illustrate and assess the interest of using a French healthcare consumption database to evaluate screening, surveillance and the risk of acute or chronic complications of diabetes in certain at-risk populations. We concluded that early screening for type-2 diabetes in women with a history of gestational diabetes was inadequate. Although a slight improvement occurred following the recommendations published in 2010, one w…
Biogeographical patterns of soil bacterial communities.
2009
International audience; This study provides the first maps of variations in bacterial community structure on a broad scale based on genotyping of DNA extracts from 593 soils from four different regions of France (North, Brittany, South-East and Landes). Soils were obtained from the soil library of RMQS (Réseau de Mesures de la Qualité des Sols = French soil quality monitoring network). The relevance of a biogeographic approach for studying bacterial communities was demonstrated by the great variability in community structure and specific geographical patterns within and between the four regions. The data indicated that the distribution of bacterial community composition might be more relate…
Microalgae community structure analysis based on 18S rDNA amplification from DNA extracted directly from soil as a potential soil bioindicator
2005
International audience; Soil algae are photosynthetically active microorganisms showing changeable community structure, depending on the soil type, the agricultural practices and the application of pesticides. To characterise algal community structure, molecular approaches complementary to classical microbiological approaches based on the isolation and the culture of soil algae are required. Our study describes a polymerase chain reaction (PCR) approach targeting algal 18S rDNA sequences of desoxyribonucleic acid (DNA) samples extracted either from unialgal eukaryotic microalgae culture, complex assemblages of microalgae populations or natural soil communities. Our first results showed that…
Biogeography of soil microbial communities: a review and a description of the ongoing french national initiative
2010
International audience; Microbial biogeography is the study of the distribution of microbial diversity on large scales of space and time. This science aims at understanding biodiversity regulation and its link with ecosystem biological functioning, goods and services such as maintenance of productivity, of soil and atmospheric quality, and of soil health. Although the initial concept dates from the early 20th century (Beijerinck (1913) De infusies en de ontdekking der backterien, in: Jaarboek van de Knoniklijke Akademie van Wetenschappen, Muller, Amsterdam), only recently have an increasing number of studies have investigated the biogeographical patterns of soil microbial diversity. A such …
Population Structure and Comparative Genome Hybridization of European Flor Yeast Reveal a Unique Group of Saccharomyces cerevisiae Strains with Few G…
2014
Wine biological aging is a wine making process used to produce specific beverages in several countries in Europe, including Spain, Italy, France, and Hungary. This process involves the formation of a velum at the surface of the wine. Here, we present the first large scale comparison of all European flor strains involved in this process. We inferred the population structure of these European flor strains from their microsatellite genotype diversity and analyzed their ploidy. We show that almost all of these flor strains belong to the same cluster and are diploid, except for a few Spanish strains. Comparison of the array hybridization profile of six flor strains originating from these four co…
Plant gene responses to Glomus mosseae in compatible and incompatible genotypes of Medicago truncatula
2006
International audience
Assessment of Adult Mouse Brain Neuroanatomical Phenotypes Using Quantitative and Precision Histology
2022
Modelling human neurodevelopmental disorders is important in biomedical research since the brain cannot be easily accessed in humans. In this chapter, we describe a series of standardized procedures for the reliable analysis of neuroanatomical phenotypes (NAPs) of the adult mouse brain using quantitative 2D histological practices. Our goal is to provide the reader an experimental pipeline, ranging from experimental work through to data analysis, which can be performed in any academic research setting with or without access to a histology platform. Depending on the type of sections studied, parasagittal or coronal, the assessment of brain neuroanatomy is performed at stereotaxic sections, at…
New insights into the use of rhizobia to mitigate soil N2O emissions
2022
Agriculture is a major anthropogenic source of the greenhouse gas N2O, which is also involved in stratospheric ozone depletion. While the use of rhizobial inoculants has already been reported as an emerging option for mitigating soil N2O emissions, this study presents an in situ abatement of 70% of soil N2O emission using the strain nosZ+ G49 vs. nosZ− USDA138 in association with soybean. Therefore, we consider that the choice of the inoculant strain of a leguminous crop should take into account the capacity of strains to reduce nitrous oxide in addition to their N fixation capacity. This study also clearly suggests that this mitigation option could be considered not only for soybean but al…