Search results for "Sang"

Rapid 96-well plates DNA extraction and sequencing procedures to identify genome-wide transposon insertion sites in a difficult to lyse bacterium: La…

2014

International audience; Random transposon mutagenesis followed by adequate screening methods is an unavoidable procedure to characterize genetics of bacterial adaptation to environmental changes. We have recently constructed a mutant library of Lactobacillus casei and we aimed to fully annotate it. However, we have observed that, for L. casei which is a difficult to lyse bacterium, methods used to identify the transposon insertion site in a few mutants (transposon rescue by restriction and recircularization or PCR-based methods) were not transposable for a larger number because they are too time-consuming and sometimes not reliable. Here, we describe a method for large-scale and reliable id…

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

2016

Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. Design We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies. Results We identified novel de novo missense mutations in GUCY2C, the gene encod…

Dracocephalum ruyschiana L. (Ogres Kangari)

1977

Ruiša pūķgalve, atradne: Ogres rajonā, Ogres Kangaros, granstkarjera A galā priežu meža klajumiņā dienvidrietumu nogāzē, kopā ar Onobrychis, Geranium sanguineum, Filipendula hexapetala, Trifolium montanum (esparsete, asinssarkanā gandrene, lielziedu vīgrieze, kalnu āboliņš). /// Northern Dragon-head, deposit: In Ogre district, Ogres Kangaros, at the eastern end of the gravel quarry in the pine forest clearing on the south-west side, together with Onobrychis, Geranium sanguineum, Filipendula hexapetala, Trifolium montanum. [Attēls no LU Muzeja kolekcijas Herbarium Latvicum (RIG II); (BOT1029_7)]

Molecular profiling of blastic plasmacytoid dendritic cell neoplasm reveals a unique pattern and suggests selective sensitivity to NF-kB pathway inhi…

2014

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare disease of controversial origin recently recognized as a neoplasm deriving from plasmacytoid dendritic cells (pDCs). Nevertheless, it remains an orphan tumor with obscure biology and dismal prognosis. To better understand the pathobiology of BPDCN and discover new targets for effective therapies, the gene expression profile (GEP) of 25 BPDCN samples was analyzed and compared with that of pDCs, their postulated normal counterpart. Validation was performed by immunohistochemistry (IHC), whereas functional experiments were carried out ex vivo. For the first time at the molecular level, we definitely recognized the cellular derivati…

Twenty Years of Basic Vocational Education Provision in Spain: Changes and Trends

2015

International journal for research in vocational education and training 2 (2015) 2, S. 137-151

Stand der Forschung im Bereich der Bildungsökonomie : Allgemeine Übersicht und französische Situation

1994

Benner, Dietrich [Hrsg.]; Lenzen, Dieter [Hrsg.]: Bildung und Erziehung in Europa. Beiträge zum 14. Kongreß der Deutschen Gesellschaft für Erziehungswissenschaft vom 14.-16. März 1994 in der Universität Dortmund. Weinheim u.a. : Beltz 1994, S. 135-148. - (Zeitschrift für Pädagogik, Beiheft; 32)

Fetal presentation of Morquio disease type A.

1992

A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsu…

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12

2012

BACKGROUND: The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS: Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutati…

A familial disorder of altered DNA-methylation

2014

BackgroundIn a subset of imprinting disorders caused by epimutations, multiple imprinted loci are affected. Familial occurrence of multilocus imprinting disorders is rare.Purpose/objectiveWe have investigated the clinical and molecular features of a familial DNA-methylation disorder.MethodsTissues of affected individuals and blood samples of family members were investigated by conventional and molecular karyotyping. Sanger sequencing and RT-PCR of imprinting-associated genes (NLRP2, NLRP7, ZFP57, KHDC3L, DNMT1o), exome sequencing and locus-specific, array-based and genome-wide technologies to determine DNA-methylation were performed.ResultsIn three offspring of a healthy couple, we observed…

The Exosomes-derived EGFR Ligand Amphiregulin (AREG) is a new key player in Multiple Myeloma Bone Destruction

Il Mieloma Multiplo (MM) è caratterizzato dalla presenza di aree osteolitiche dovute alla presenza di plasmacellule (PC) neoplastiche che causano l'interruzione della normale omeostasi ossea, promuovendo l'attività degli osteoclasti (OC) ed inibendo la funzione degli (OB). Al momento, uno dei campi di ricerca nella fisiopatologia del MM è proprio lo studio dei meccanismi che regolano l’attività degli OC e degli OB così come l’identificazione di target terapeutici per la prevenzione ed il trattamento delle lesioni osteolitiche. Negli ultimi anni è emerso che le vescicole extracellulari (EV), ed in particolare gli esosomi, giocano un ruolo fondamentale nel mediare il cross-talk tra le cellule…