An official website of the United States government
Here’s how you know
Official websites use .gov
A .gov website belongs to an official government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.
mutation; mutation rate, etc ; Arabidopsis thaliana; essential genes; gene frequency; planting; Show all 6 Subjects
Abstract:
... In a recent study of de novo mutations in arabidopsis (Arabidopsis thaliana), Monroe et al. found a lower mutation frequency inside gene bodies and certain essential genes, shattering the long-standing idea that mutations are entirely random across the genome. Here I highlight the molecular nonrandomness of mutations and the type of gene affected. ...
mutation accumulation; mutation rate, etc ; conspecificity; extinction; genomics; outcrossing; risk; selfing; temporal variation; Show all 9 Subjects
Abstract:
... It is theoretically established that self‐fertilization can facilitate mutation accumulation, thus increasing extinction risk. However, in previous studies, selfing rates are often set as fixed parameters, but in natural systems, evolution of selfing rates and deleterious mutations may mutually affect each other. I carried out simulations to investigate the dynamics of selfing rates and mutation a ...
... Plants have evolved complex defence mechanisms to avoid invasion of potential pathogens. Despite this, adapted pathogens deploy effector proteins to manipulate host susceptibility (S) genes, rendering plant defences ineffective. The identification and mutation of plant S genes exploited by bacterial pathogens are important for the generation of crops with durable and broad-spectrum resistance. App ...
... To elucidate the relevance of genetic alterations, we analysed 17 genes known to be involved in haematological neoplasms in patients with chronic leucocytosis and patients with persistent thrombocytosis. Mutations of the JAK2, SETBP1 and ASXL1 genes were found in 1/13, 1/13, and 2/13 patients with leucocytosis, respectively. Mutations of the JAK2, CALR, SETBP1 and ASXL1 genes were found in 1/5, 1/ ...
... In this paper, we identify the parallels and the differences between language and life as evolvable systems in pursuit of a framework that will investigate language change from the perspective of a general theory of evolution. Despite the consensus that languages change similarly to species, as reflected in the construction of language trees, the field has mainly applied biological techniques to s ...
mutation; mutation rate, etc ; carcinogenesis; databases; drug resistance; genes; glycolysis; humans; mutants; prognosis; sequence analysis; survival rate; Show all 12 Subjects
Abstract:
... Although the relationship between TP53 mutation, TP53 metabolism pathways, and tumorigenesis has been investigated, pan-cancer analysis of TP53 mutations and related metabolism pathways is not completely available in common types of human cancers. Thus, this study was going to represent TP53 mutant-related metabolism genes and pathways in a pan-cancer study and investigate the relationship between ...
Juan Luis Pacheco‐Garcia; Dmitry Loginov; Bruno Rizzuti; Pavla Vankova; Jose L. Neira; Daniel Kavan; Noel Mesa‐Torres; Rita Guzzi; Petr Man; Angel L. Pey
mutation, etc ; bioinformatics; humans; phosphorylation; rats; Show all 5 Subjects
Abstract:
... The phosphomimetic mutation S82D in the cancer‐associated, FAD‐dependent human NADP(H):quinone oxidoreductase 1 (hNQO1) causes a decrease in flavin‐adenine dinucleotide‐binding affinity and intracellular stability. We test in this work whether the evolutionarily recent neutral mutation R80H in the vicinity of S82 may alter the strong functional effects of S82 phosphorylation through electrostatic ...
missense mutation; point mutation, etc ; aconitate hydratase; alleles; antioxidants; cerebellum; cerebrum; heart; homozygosity; humans; introns; mice; mitochondria; phenotype; Show all 14 Subjects
Abstract:
... Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (FXN) gene. The most prevalent mutation is a GAA expansion in the first intron of the gene causing decreased frataxin expression. Some patients present the GAA expansion in one allele and a missense mutation in the other allele. One of these mutations, FXNI154F, was reported to result in decreased ...
Juan Luis Pacheco-Garcia; Dmitry S. Loginov; Ernesto Anoz-Carbonell; Pavla Vankova; Rogelio Palomino-Morales; Eduardo Salido; Petr Man; Milagros Medina; Athi N. Naganathan; Angel L. Pey
mutation, etc ; active sites; leucine; proteins; solubility; Show all 5 Subjects
Abstract:
... Allosterism is a common phenomenon in protein biochemistry that allows rapid regulation of protein stability; dynamics and function. However, the mechanisms by which allosterism occurs (by mutations or post-translational modifications (PTMs)) may be complex, particularly due to long-range propagation of the perturbation across protein structures. In this work, we have investigated allosteric commu ...
mutation, etc ; brain; chemical bonding; disulfides; mutants; Show all 5 Subjects
Abstract:
... The formation and propagation of aggregates of the tau protein in the brain are associated with the tauopathy group of neurodegenerative diseases. Different tauopathies have been shown to be associated with structurally distinct aggregates of tau. However, the mechanism by which different structural folds arise remains poorly understood. In this study of fibril formation by the fragment tau-K18 of ...
mutation, etc ; RNA; dielectric spectroscopy; microsatellite repeats; Show all 4 Subjects
Abstract:
... We present a PNA microprobe sensing platform to detect trinucleotide repeat mutation by electrochemical impedance spectroscopy. The microprobe platform discriminated Huntington's disease-associated CAG repeats in cell-derived total RNA with S/N 1 : 3. This sensitive, label-free, and PCR-free detection strategy may be employed in the future to develop biosensing platforms for the detection of a ple ...
... We explored the molecular evolution of the spike gene after the administration of anti-spike monoclonal antibodies in patients with mild or moderate forms of COVID-19. Four out of the 13 patients acquired a mutation during follow-up; two mutations (G1204E and E406G) appeared as a mixture without clinical impact, while the Q493R mutation emerged in two patients (one receiving bamlanivimab and one r ...
... BACKGROUND: Xanthomonas oryzae pv. oryzae (Xoo) causes bacterial leaf blight, a devastating disease of rice. Among the type-3 effectors secreted by Xoo to support pathogen virulence, the Transcription Activator-Like Effector (TALE) family plays a critical role. Some TALEs are major virulence factors that activate susceptibility (S) genes, overexpression of which contributes to disease development. ...
mutation, etc ; Loa; animal genetics; genes; phenotype; progeny; Show all 6 Subjects
Abstract:
... Several genetic variants have been shown to affect the mean number of offspring in different sheep breeds. Here, we analyzed samples from Icelandic sheep with the aim of identifying the genetic cause of the Icelandic Loa phenotype using three previously identified prolificacy genes as candidates. We demonstrate that a 4‐bp frameshift deletion positioned in the mature region of the GDF9 protein in ...
Erich Schaflinger; Jasmin Blatterer; Aiman Saeed Khan; Lukas Kaufmann; Lisa Auinger; Benjamin Tatrai; Sumra Wajid Abbasi; Muhammad Zeeshan Ali; Ansar Ahmad Abbasi; Ali Al Kaissi; Erwin Petek; Klaus Wagner; Muzammil Ahmad Khan; Christian Windpassinger
frameshift mutation, etc ; enzyme activity; homozygosity; start codon; Show all 4 Subjects
Abstract:
... Biallelic mutations in ZMPSTE24 are known to be associated with autosomal recessive mandibuloacral dysplasia with type B lipodystrophy (MADB) and lethal restrictive dermopathy (RD), respectively. Disease manifestation is depending on the remaining enzyme activity of the mutated ZMPSTE24 protein. To date, complete loss of function has exclusively been reported in RD cases. In this study, we identif ...
mutation, etc ; autism; etiology; genes; neurodevelopment; pathophysiology; Lebanon; Show all 7 Subjects
Abstract:
... In our previous study, in which array CGH was used on 19 Lebanese ASD subjects and their parents, we identified rare copy number variants (CNVs) in 14 subjects. The five remaining subjects did not show any CNVs related to autism spectrum disorders (ASD). In the present complementary study, we applied whole-exome sequencing (WES), which allows the identification of rare genetic variations such as s ...
mutation, etc ; HIV infections; evolution; phenotype; virology; viruses; Show all 6 Subjects
Abstract:
... The ability of HIV-1 to evade neutralizing antibodies (NAbs) in vivo is well demonstrated, but the impact of NAb escape mutations on HIV-1 phenotype other than immune escape itself has rarely been studied. Here, we show that immune escape mutations selected by V3-glycan specific NAbs in vivo can alter coreceptor usage repertoire of the transmitted/founder (T/F) HIV-1. In a participant developed V3 ...
mutation, etc ; cadmium; environment; manganese; rice; risk; toxicity; Show all 7 Subjects
Abstract:
... OsNRAMP5 is a transporter responsible for cadmium (Cd) and manganese (Mn) uptake and root-to-shoot translocation of Mn in rice plants. Knockout of OsNRAMP5 is regarded as an effective approach to minimize Cd uptake and accumulation in rice. It is vital to evaluate the effects of knocking out OsNRAMP5 on Cd and Mn accumulation, as well as Cd tolerance of rice plants in response to varying environme ...
mutation, etc ; Russia; bone formation; genetic disorders; pathogenesis; Show all 5 Subjects
Abstract:
... Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not prev ...
mutation, etc ; allopolyploidy; aneuploidy; coevolution; diploidy; epigenetics; fractionation; meiosis; Show all 8 Subjects
Abstract:
... Newly formed polyploids often show extensive meiotic defects, resulting in aneuploid gametes, and thus reduced fertility. However, while many neopolyploids are meiotically unstable, polyploid lineages that survive in nature are generally stable and fertile; thus, those lineages that survive are those that are able to overcome these challenges. Several genes that promote polyploid stabilization are ...