Search results for "genetics [Transcriptome]"
showing 10 items of 3033 documents
The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
2023
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also …
Comment on Liu et al. Application of High-Flow Nasal Cannula in COVID-19: A Narrative Review. Life 2022, 12, 1419
2022
We read the article “Application of High-Flow Nasal Cannula in COVID-19: A Narrative Review” by Liu and colleagues [...]
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
2022
Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. R…
Genome-wide adaptive complexes to underground stresses in blind mole rats Spalax
2014
The blind mole rat (BMR), Spalax galili, is an excellent model for studying mammalian adaptation to life underground and medical applications. The BMR spends its entire life underground, protecting itself from predators and climatic fluctuations while challenging it with multiple stressors such as darkness, hypoxia, hypercapnia, energetics and high pathonecity. Here we sequence and analyse the BMR genome and transcriptome, highlighting the possible genomic adaptive responses to the underground stressors. Our results show high rates of RNA/DNA editing, reduced chromosome rearrangements, an over-representation of short interspersed elements (SINEs) probably linked to hypoxia tolerance, degene…
The age and evolution of sociality in Stegodyphus spiders: a molecular phylogenetic perspective
2006
Social, cooperative breeding behaviour is rare in spiders and generally characterized by inbreeding, skewed sex ratios and high rates of colony turnover, processes that when combined may reduce genetic variation and lower individual fitness quickly. On these grounds, social spider species have been suggested to be unstable in evolutionary time, and hence sociality a rare phenomenon in spiders. Based on a partial molecular phylogeny of the genus Stegodyphus , we address the hypothesis that social spiders in this genus are evolutionary transient. We estimate the age of the three social species, test whether they represent an ancestral or derived state and assess diversification relative to s…
Musical sound processing in the human brain. Evidence from electric and magnetic recordings.
2001
Recently, our knowledge regarding the brain's ability to represent invariant features of musical information even during the performance of a simultaneous task (unrelated to the sounds) has accumulated rapidly. Recordings of the change-specific mismatch negativity component of event-related brain potentials have shown that temporally and spectrally complex sounds as well as their relations are automatically processed by human auditory cortex. Furthermore, recent magnetoencephalographic and positron emission topographic investigations indicate that this processing differs between phonetic and musical sounds within and between the cerebral hemispheres. These data thus suggest that despite the…
TAFA4 relieves injury-induced mechanical hypersensitivity through LDL receptors and modulation of spinal A-type K+ current
2021
Pain, whether acute or persistent, is a serious medical problem worldwide. However, its management remains unsatisfactory, and new analgesic molecules are required. We show here that TAFA4 reverses inflammatory, postoperative, and spared nerve injury (SNI)-induced mechanical hypersensitivity in male and female mice. TAFA4 requires functional low-density lipoprotein receptor-related proteins (LRPs) because their inhibition by RAP (receptor-associated protein) dose-dependently abolishes its antihypersensitive actions. SNI selectively decreases A-type K+ current (IA) in spinal lamina II outer excitatory interneurons (L-IIo ExINs) and induces a concomitant increase in IA and decrease in hyperpo…
Calorimetric properties of water and triacylglycerols in fern spores relating to storage at cryogenic temperatures.
2007
Abstract Storing spores is a promising method to conserve genetic diversity of ferns ex situ . Inappropriate water contents or damaging effects of triacylglycerol (TAG) crystallization may cause initial damage and deterioration with time in spores placed at −15 °C or liquid nitrogen temperatures. We used differential scanning calorimetry (DSC) to monitor enthalpy and temperature of water and TAG phase transitions within spores of five fern species: Pteris vittata , Thelypteris palustris , Dryopteris filix-mas , Polystichum aculeatum , Polystichum setiferum . The analyses suggested that these fern spores contained between 26% and 39% TAG, and were comprised of mostly oleic ( P. vittata ) or …
Nimrod, a Putative Phagocytosis Receptor with EGF Repeats in Drosophila Plasmatocytes
2007
SummaryThe hemocytes, the blood cells of Drosophila, participate in the humoral and cellular immune defense reactions against microbes and parasites [1–8]. The plasmatocytes, one class of hemocytes, are phagocytically active and play an important role in immunity and development by removing microorganisms as well as apoptotic cells. On the surface of circulating and sessile plasmatocytes, we have now identified a protein, Nimrod C1 (NimC1), which is involved in the phagocytosis of bacteria. Suppression of NimC1 expression in plasmatocytes inhibited the phagocytosis of Staphylococcus aureus. Conversely, overexpression of NimC1 in S2 cells stimulated the phagocytosis of both S. aureus and Esc…
Differences in metabolic profiles of planktonic and biofilm cells in Staphylococcus aureus - (1)H Nuclear Magnetic Resonance search for candidate bio…
2013
Staphylococcus aureus is responsible for many types of infections related to biofilm presence. As the early diagnostics remains the best option for prevention of biofilm infections, the aim of the work presented was to search for differences in metabolite patterns of S. aureus ATCC6538 biofilm vs. free-swimming S. aureus planktonic forms. For this purpose, Nuclear Magnetic Resonance (NMR) spectroscopy was applied. Data obtained were supported by means of Scanning Electron Microscopy, quantitative cultures and X-ray computed microtomography. Metabolic trends accompanying S. aureus biofilm formation were found using Principal Component Analysis (PCA). Levels of isoleucine, alanine and 2,3-but…