Search results for "genetics"
showing 10 items of 12494 documents
Development of high-performance thin layer chromatography method for identification of phenolic compounds and quantification of rosmarinic acid conte…
2020
ABSTRACT Aim: Representatives of Nepetoideae Burnett subfamily are promising species of the Lamiaceae Martinov family because of accumulating such valuable groups of secondary metabolites as terpenoids and polyphenols. A high-performance thin layer chromatography (HPTLC) fingerprint method for the qualitative determination of phenolic compounds and for the quantification of rosmarinic acid (RA) content in methanol extracts of five species of this subfamily was developed for the first time. Materials and Methods: Dried aerial parts of Dracocephalum moldavica L., Ocimum americanum L., Lophanthus anisatus (Nutt.) Benth., Monarda fistulosa L., and Satureja hortensis L. collected in flowering pe…
Analysis of runs of homozygosity of cattle living in different climate zones
2023
Abstract Aim of this study was to analyze the distribution and characteristics of runs of homozygosity in Bos taurus taurus and Bos taurus indicus breeds, as well as their crosses, farmed all around the world. With this aim in view, we used single-nucleotide polymorphisms (SNP) genotypes for 3,263 cattle belonging to 204 different breeds. After quality control, 23,311 SNPs were retained for the analysis. Animals were divided into seven different groups: 1) continental taurus, 2) temperate taurus, 3) temperate indicus, 4) temperate composite, 5) tropical taurus, 6) tropical indicus, and 7) tropical composite. The climatic zones were created according to the latitude of the breeds’ country of…
Genome Characterization of natural Saccharomyces hybrids of biotechnological interest
2012
At present, the genus Saccharomyces comprises seven species according to their patterns of breeding. The species boundaries are not clear due to the description of several reticulate events due to introgression and hybridization. In the last decade, new natural hybrids have been described in wine and brewing, such as S. cerevisiae x S. kudriavzevii. Due to new practices in wine and beer production, together with consequences in grape properties due to climatic change, led biotechnological companies to search for new yeast strains. In this context, hybrids have become of importance to biotechnological industries because they show good fermentative performance at low temperatures and produce …
Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
2022
Backgroundand aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholesterolemia, ARH is resistant to conventional LDL-lowering medications and causes a high risk of atherosclerotic cardiovascular diseases (ASCVDs) and aortic valve stenosis. Lomitapide is emerging as an efficacious therapy in classical HoFH, but few data are available for ARH.Results: This is a subanalysis carried out on nine ARH patients included in the Pan-European Lomitapide Study. The age at starting lomitapide was 46 (interquartile range (IQR), 39.0–65.5) y…
Bridging the gap between research into biological and psychosocial models of psychosis.
2015
Paul Bebbington's recent Special Article provides an excellent synthesis of recent advances in psychosocial research on psychosis. However, we doubt that a model based solely on social epidemiology and cognitive theory can totally describe psychosis, and to be fair, Bebbington does not suggest that it does. A complete model must also incorporate what we have learned from non-social epidemiology, neuroscience, and genetics. Evidence indicates that both the social risk factors that interest Bebbington and biological risk factors, such as abuse of stimulants and cannabis, can provoke psychotic symptoms by dysregulating striatal dopamine. The role of neurodevelopmental deviance also needs to be…
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
2011
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…
Index Seminum: annis 2018-2019 collectorum quae
2018
Latvijas Universitātes Botāniskā dārza starptautiskajai sēklu apmaiņai ievākto sēklu saraksts 2018.-2019. gadam. Tajā ir 617 taksoni, tajā skaitā 44, kam sēklas ir ievāktas savvaļā.
Epigenetic regulation of sex differences in susceptibility to stress
2017
Under current diagnostics depression and stress related mood disorders have a higher occurrence in women than men. Little is known of the biological mechanisms contributing to these sex differences and how they may impact potential new therapeutics. Here we examine how DNA methylation contributes to sex specific stress vulnerability in adult animals. Mice of both sexes were exposed to variable stress and given a behavioral test battery to examine stress sensitivity. Female mice expressed depressionassociated behavior across all tests stress exposure whereas males were behaviorally resilient. Markers of pre and post-synaptic plasticity and spine morphology were examined using a combination o…
Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.
2004
Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the pu…
Genetic variability of the blue and red shrimp Aristeus antennatus in the Western Mediterranean Sea inferred by DNA microsatellite loci
2012
Genetic variation at eight microsatellite loci was studied in nine populations of the blue and red shrimp Aristeus antennatus to investigate whether distinct stocks are present in the Western Mediterranean Sea. A high level of gene flow and no evidence of genetic partitioning were discovered. No significant variation was found (FST = 0.00673, P-value = 0.067) even when shrimps from exploited and those from deep-water unexploited grounds were compared. No evidence of reduction or expansion of population size in the recent past was found, as indicated by the bottleneck and interlocus g-tests. Our results are consistent with previous studies using mitochondrial gene methods and allozymes, indi…