Search results for "Peat"
showing 10 items of 1026 documents
m6A RNA methylation of major satellite repeat transcripts facilitates chromatin association and RNA:DNA hybrid formation in mouse heterochromatin
2021
Abstract Heterochromatin has essential functions in maintaining chromosome structure, in protecting genome integrity and in stabilizing gene expression programs. Heterochromatin is often nucleated by underlying DNA repeat sequences, such as major satellite repeats (MSR) and long interspersed nuclear elements (LINE). In order to establish heterochromatin, MSR and LINE elements need to be transcriptionally competent and generate non-coding repeat RNA that remain chromatin associated. We explored whether these heterochromatic RNA, similar to DNA and histones, may be methylated, particularly for 5-methylcytosine (5mC) or methyl-6-adenosine (m6A). Our analysis in mouse ES cells identifies only b…
Thymidylate synthase gene promoter polymorphisms are associated with TSmRNA expressions but not with microsatellite instability in colorectal cancer
2005
Abstract BACKGROUND: Microsatellite instability (MSI) is a biological characteristic of most tumours, being involved in 85% of hereditary non-polyposis colorectal cancer (HNPCC). It also occurs in 10-15% of sporadic colorectal cancers (CRC). HNPCC appears to be caused by germline mutations in mismatch repair (MMR) genes, which are responsible for repairing single base-pair mismatches. MSI is also associated with a better response of CRC to adjuvant chemotherapy with fluoropyrimidines. We investigated any relationship between the MSI status and the TSmRNA expression, the polymorphisms of 5-Fluorouracil (5-FU cellular target, the enzyme thymidylate synthase (TS) and TS expression evaluated by…
Determination of 21 perfluoroalkyl substances and organophosphorus compounds in breast milk by liquid chromatography coupled to orbitrap high-resolut…
2018
Abstract The human exposure to perfluoroalkyl (PFASs) and organophosphorus (OPs) compounds is a cause of concern and its determination in biological matrices, including human milk, is an emergent approach for evaluate their exposure. A comprehensive strategy for the quantitative determination of 21 PFASs and OPs compounds in breast milk was developed. The proposed method includes an extraction and clean-up procedure based on the QuEChERs methodology followed by an ultra-high performance liquid chromatography coupled to high-resolution mass spectrometry (UHPLC-HRMS) determination. The full-scan mass data were acquired with a resolution of 50000 FWHM and a mass accuracy better than 5 ppm. Met…
Variable maternal methylation overlapping the nc886/vtRNA2-1 locus is locked between hypermethylated repeats and is frequently altered in cancer.
2014
Cancer is as much an epigenetic disease as a genetic one; however, the interplay between these two processes is unclear. Recently, it has been shown that a large proportion of DNA methylation variability can be explained by allele-specific methylation (ASM), either at classical imprinted loci or those regulated by underlying genetic variants. During a recent screen for imprinted differentially methylated regions, we identified the genomic interval overlapping the non-coding nc886 RNA (previously known as vtRNA2-1) as an atypical ASM that shows variable levels of methylation, predominantly on the maternal allele in many tissues. Here we show that the nc886 interval is the first example of a …
Repeatability of patellar cartilage thickness patterns in the living, using a fat-suppressed magnetic resonance imaging sequence with short acquisiti…
1998
A fast, reproducible, and noninvasive method is required for quantifying cartilage thickness clinically and for studying the deformation of articular cartilage during and after mechanical loading in vivo. The objective of the current investigation was to test the repeatability of regional distribution patterns of patellar cartilage thickness in the living on the basis of a fat-suppressed magnetic resonance imaging sequence with a short acquisition time and three-dimensional digital data processing. The knees of eight healthy volunteers were transversally imaged with a fat-suppressed FLASH-3D (fast low angle shot) sequence (acquisition time: 4 minutes and 10 seconds). In each case, the joint…
Tactical Aspects of a National University Taekwondo Championship in Relation to Round and Match Outcome
2015
The aims of this study were to analyze tactical behavior (direct attacks and indirect attacks, in addition to anticipatory, simultaneous, and posterior counterattacks) according to competition round and match, and to compare tactics of competitors (winners and nonwinners) in a university taekwondo championship. The analysis included 334 individual performances from 204 athletes over 169 bouts in the National University Championship. A 2-way repeated measure analysis of variance was conducted with “round” (at 3 levels: first, second, and third) as the within-subject factor and match outcome (at 2 levels: winning and nonwinning) as the between-subject factor. The results of this study show th…
Mycotoxin Analysis of Human Urine by LC-MS/MS: A Comparative Extraction Study
2017
The lower mycotoxin levels detected in urine make the development of sensitive and accurate analytical methods essential. Three extraction methods, namely salting-out liquid–liquid extraction (SALLE), miniQuEChERS (quick, easy, cheap, effective, rugged, and safe), and dispersive liquid–liquid microextraction (DLLME), were evaluated and compared based on analytical parameters for the quantitative LC-MS/MS measurement of 11 mycotoxins (AFB1, AFB2, AFG1, AFG2, OTA, ZEA, BEA, EN A, EN B, EN A1 and EN B1) in human urine. DLLME was selected as the most appropriate methodology, as it produced better validation results for recovery (79–113%), reproducibility (RSDs < 12%), and repeatability (RSDs…
Fragile-X carrier females: evidence for a distinct psychopathological phenotype?
1996
The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
2000
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…
Update on autoimmune hepatitis
2009
Autoimmune hepatitis (AIH) is a necroinflammatory liver disease of unknown etiology that occurs in children and adults of all ages. Characteristics are its autoimmune features, hyperglobulinemia (IgG), and the presence of circulating autoantibodies, as well as a response to immunosuppressant drugs. Current treatment consists of prednisone and azathioprine and in most patients this disease has become very treatable. Over the past 2 years, a couple of new insights into the genetic aspects, clinical course and treatment of AIH have been reported, which will be the focus of this review. In particular, we concentrate on genome-wide microsatellite analysis, a novel mouse model of AIH, the evaluat…