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.
... Formate hydrogenlyase-1 (FHL-1) is a complex-I-like enzyme that is commonly found in gram-negative bacteria. The enzyme comprises a peripheral arm and a membrane arm but is not involved in quinone reduction. Instead, FHL-1 couples formate oxidation to the reduction of protons to molecular hydrogen (H₂). Escherichia coli produces FHL-1 under fermentative conditions where it serves to detoxify formi ...
mutation, etc ; amylopectin; amylose; anion exchange chromatography; calorimetry; dextrins; enthalpy; gel chromatography; gelatinization; hydrocolloids; polymerization; potatoes; retrogradation; starch synthase; Show all 14 Subjects
Abstract:
... The correlation between starch internal structure and thermal properties (gelatinisation and retrogradation) was studied in starches of wild-type potatoes and potatoes from the lines with altered starch synthase or branching enzyme activities (GBSS, SS, SBE), representing a range of amylose:amylopectin ratio from 2 to >99.5% amylopectin. The different potato lines were divided into Group 1–8 depen ...
... A major challenge in the fight to effectively control malaria is the emergence of resistant parasite to drugs used in therapy as well as for chemoprevention. In this study, single nucleotide polymorphisms (SNPs) associated with Plasmodium falciparum resistance to sulfadoxine-pyrimethamine (SP), one of the partner drugs in artemisinin-based therapies (ACTs) were studied in asymptomatic P. falciparu ...
mutation, etc ; aptasensors; crystal structure; deformation; detection limit; models; oligonucleotides; quantitative structure-activity relationships; ricin; synergism; systematic evolution of ligands by exponential enrichment; Show all 11 Subjects
Abstract:
... Currently, many aptamers of different target molecules have been screened by systematic evolution of ligands by exponential enrichment (SELEX) method. However, since the crystal structure of aptamers is complicated to obtain, few studies focus on the quantitative structure activity relationship (QSAR) of aptamers. It is significant to develop a virtual screening method for aptamers based on the QS ...
mutation, etc ; COVID-19 infection; Severe acute respiratory syndrome coronavirus 2; antibodies; biosensors; drug development; human health; pandemic; rapid methods; reverse transcriptase polymerase chain reaction; viruses; Show all 11 Subjects
Abstract:
... Currently, the coronavirus disease 2019 (COVID-19) pandemic is ravaging the world, causing serious crisis in economy and human health. The top priority is the detection and drug development of the novel coronavirus. The gold standard for real-time diagnosis of coronavirus disease is the reverse transcription-polymerase chain reaction (RT-PCR), which is usually operatively complex and time-consumin ...
mutation, etc ; Pseudomonas aeruginosa; amino acids; catalytic activity; decolorization; fatty acids; half life; hydroperoxides; industrial applications; lipoxygenases; medicine; molecular dynamics; mutants; peroxidation; structure-activity relationships; van der Waals forces; Show all 16 Subjects
Abstract:
... Lipoxygenase (LOX) catalyzes the peroxidation of unsaturated fatty acids to produce hydroperoxides, which had been widely used in food, medicine and chemical industries due to its decoloration of food and conversion of renewable oils. Thus, higher catalytic activity and stability is desired for low-cost and expanded industrial applications of LOX. To improve the catalytic activity of LOX, a mutant ...
Davide Vergni; Daniele Santoni; Yagai Bouba; Saverio Lemme; Lavinia Fabeni; Luca Carioti; Ada Bertoli; William Gennari; Federica Forbici; Carlo Federico Perno; Roberta Gagliardini; Francesca Ceccherini-Silberstein; Maria Mercedes Santoro; on behalf of the HIV drug-resistance group
mutation; mutation rate, etc ; amino acids; bioinformatics; entropy; infection; integrases; Show all 7 Subjects
Abstract:
... This study aimed at updating previous data on HIV-1 integrase variability, by using effective bioinformatics methods combining different statistical instruments from simple entropy and mutation rate to more specific approaches such as Hellinger distance. A total of 2133 HIV-1 integrase sequences were analyzed in: i) 1460 samples from drug-naïve [DN] individuals; ii) 386 samples from drug-experienc ...
mutation, etc ; CRISPR-Cas systems; Oreochromis niloticus; aquaculture; basement membrane; body size; body weight; brain; carp; condition factor; fins; fluorescence; gene expression; genes; growth performance; head; hybridization; males; mammals; muscles; mutants; myostatin; phenotype; phylogeny; sexual dimorphism; skeletal muscle; specific growth rate; weight gain; Show all 28 Subjects
Abstract:
... Tilapia is the second most prolific species grown in aquaculture after carp, and is widely grown in >100 countries. Myostatin (MSTN) has been proved to be a negative regulator of skeletal muscle growth. Mutation of MSTN gene resulted in significant increase in both body size and muscle mass in vertebrates, mostly with a species-specific effect. To generate a new strain in Nile tilapia (Oreochromis ...
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 rate; spontaneous mutation, etc ; data collection; ecology; fossils; fruits; hybridization; phylogeny; Show all 8 Subjects
Abstract:
... Several true fruit flies (Tephritidae) cause major damage to agriculture worldwide. Among them, species of the genus Bactrocera are extensively studied to understand the traits associated with their invasiveness and ecology. Comparative approaches based on a reliable phylogenetic framework are particularly effective, but several nodes of the Bactrocera phylogeny are still controversial, especially ...
missense mutation; point mutation, etc ; coagulation; genes; hemophilia; lysine; mutants; nanocarriers; polypeptides; research; Show all 10 Subjects
Abstract:
... The coagulation factor 9 gene (FIX) point mutation contributes to most hemophilia B cases, providing ideal gene correction models. Here we identified the frequent mutation G20519A (R226Q) in FIX, which resulted in many severe and moderate hemophilia B patients. This study aimed to investigate the effect of HDR and base editing in correcting FIX mutant. We first constructed HEK293 and liver-derived ...
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 ...
mutation; mutation rate, etc ; Chinese people; genomics; haplotypes; linkage disequilibrium; loci; major histocompatibility complex; Show all 8 Subjects
Abstract:
... The major histocompatibility complex (MHC) is closely associated with numerous diseases, but its high degree of polymorphism complicates the discovery of disease-associated variants. In principle, recombination and de novo mutations are two critical factors responsible for MHC polymorphisms. However, direct evidence for this hypothesis is lacking. Here, we report the generation of fine-scale MHC r ...
mutation rate; spontaneous mutation, etc ; ethidium; genes; genotoxicity; mutagenicity; mutagens; polymerase chain reaction; rapid methods; Show all 9 Subjects
Abstract:
... In a rpsL gene mutation experiment, the mutagenicity of the nitrosamine compounds N-diethylnitrosamine (NDEA) and N-dipropylnitrosamine (NDPA) was investigated at the cellular level, as well as with PCR (polymerase chain reaction) and RCA (rolling-circle amplification) amplification systems. The experiments were set up with 10 ppm, 100 ppm, and 1000 ppm concentration gradients of NDEA and NDPA, an ...
Shahid Nazir; Atif Adnan; Rahat Abdul Rehman; Wedad Saeed Al-Qahtani; Abrar B. Alsaleh; Hussam S. Al-Harthi; Fatmah Ahmed Safhi; Reem Almheiri; Reem Lootah; Afra Alreyami; Imran Almarri; Chuan-Chao Wang; Allah Rakha; Sibte Hadi
mutation; mutation rate, etc ; Y chromosome; haplotypes; human genetics; males; meiosis; microsatellite repeats; pedigree; Pakistan; Show all 10 Subjects
Abstract:
... Y chromosome short tandem repeat polymorphisms (Y-STRs) are important in many areas of human genetics. Y chromosomal STRs, being normally utilized in the field of forensics, exhibit low haplotype diversity in consanguineous populations and fail to discriminate among male relatives from the same pedigree. Rapidly mutating Y-STRs (RM Y-STRs) have received much attention in the past decade. These 13 ...
... BRAF V600E mutation is a single-nucleotide variation (SNV) that is widely found in various cancers and has been demonstrated to have a strong association with the prognosis and development of some diseases. Thus, we developed a strategy based on rolling circle amplification (RCA) and CRISPR/Cas14a to meet the great need for detecting highly specific BRAF V600E mutation in fine-needle biopsy sample ...
... 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 ...
gain-of-function mutation; loss-of-function mutation, etc ; adenocarcinoma; animals; caregivers; medicine; models; monitoring; surgery; Show all 9 Subjects
Abstract:
... BACKGROUND: Largely due to incidental detection, asymptomatic pancreatic cystic lesions (PCLs) have become prevalent in recent years. Among them, intraductal papillary mucinous neoplasm (IPMN) infrequently advances to pancreatic ductal adenocarcinoma (PDAC). Conservative surveillance versus surgical intervention is a difficult clinical decision for both caregivers and PCL patients. Because RNF43 l ...