• We use the unfolded spectra to estimate the frequency and strength of advantageous and deleterious mutations, and estimate that ~50% of amino acid substitutions are positively selected, but that less than 0.5% of new amino acid mutations are beneficial, with a scaled selection strength of Nes ≈ 12. (ed.ac.uk)
  • At least three mutations in the MCEE gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems. (medlineplus.gov)
  • People with methylmalonic acidemia caused by mutations in the MCEE gene typically have milder signs and symptoms than people with the condition caused by mutations in other genes. (medlineplus.gov)
  • The features may be milder because there is an alternate pathway for the conversion of propionyl-CoA to succinyl-CoA that does not involve methylmalonyl CoA epimerase, so some succinyl-Co is produced even when there are mutations in the MCEE gene. (medlineplus.gov)
  • This alternate pathway cannot compensate for the breakdown of certain molecules that occurs in the regular pathway, so people with MCEE gene mutations still have a buildup of the byproducts of some amino acids and certain fats. (medlineplus.gov)
  • Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). (medlineplus.gov)
  • Background: Cystic Fibrosis (CF) is a life-threatening recessive genetic disorder resulting from mutations in the gene encoding the fibrosis transmembrane conductance regulator protein (CFTR). (tanaffosjournal.ir)
  • Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients', TANAFFOS (Respiration) , 17(2), pp. 73-81. (tanaffosjournal.ir)
  • The investigators compared the frequency of pathogenic germline mutations in monoallelic cancer-predisposing genes between patients who had experienced progression and those who had not. (medscape.com)
  • Mutations in these genes occurred, respectively, in 1.6% and 1.25% of participants who experienced progression to esophageal adenocarcinoma. (medscape.com)
  • Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. (bvsalud.org)
  • Overlap exists with Congenital Muscular Dystrophy (CMD) as several gene mutations can cause both a LGMD and CMD phenotype. (medscape.com)
  • These diseases are discussed here in part because mutations in 2 genes can present with either an LGMD or a myofibrillar myopathy phenotype. (medscape.com)
  • Linkage evidence suggests that chromosome 13 (13q32-33) contains susceptibility genes for both bipolar disorder and schizophrenia. (nih.gov)
  • This model was developed using data collected from molecular epidemiology studies of allergic asthma that examined variants in 16 susceptibility genes. (cdc.gov)
  • The results have demonstrated that many new variants of the coa gene are present in Minia, Egypt, different from those reported in the previous studies. (hindawi.com)
  • The rates of spontaneous gene duplication and deletion are extraordinarily high and speak to the enormous potential of these structural variants for generating new adaptive variability [ 5 - 10 ]. (biomedcentral.com)
  • In this study, we seek to determine if gene copy-number changes are a common class of genetic change during adaptation and what role, if any, natural selection plays in the maintenance and frequency increase of copy-number variants (CNVs henceforth) in experimental populations. (biomedcentral.com)
  • Types and frequencies of gene variants in idiopathic short stature children[J]. Chinese Journal of Child Health Care, 2023, 31(6): 678-683. (magtech.com.cn)
  • Whole-exome sequencing of 13 subjects with serious ritodrine-induced cardiac and pulmonary side-effects was performed to identify causal genes and variants. (nih.gov)
  • To assess the impact of distributed rare variants in cases with side effects, we carried out rare variant association tests with a minor allele frequency ≤ 1% using the burden test, the sequence Kernel association test (SKAT), and optimised SKAT. (nih.gov)
  • Ritodrine-induced cardiac and pulmonary side effects may be associated with deleterious genetic variants in ciliary and pharmacokinetic genes. (nih.gov)
  • G variants of solute carrier family 26, member 4 ( SLC26A4 ) gene play a critical role in the development of large vestibular aqueduct syndrome (LVAS). (springeropen.com)
  • In this study, we developed a rapid genotyping method for discriminating LVAS-associated high-frequency variants in SLC26A4 gene. (springeropen.com)
  • 2017 ). It is well known that the solute carrier family 26, member 4 ( SLC26A4 ) gene plays a critical role in the development of LVAS, and about 90% of LVAS is closely attributed to SLC26A4 gene variants (Nishio et al. (springeropen.com)
  • To date, more than 100 of SLC26A4 gene variants have been identified and described as causally related to hereditary hearing impairment ( https://hereditaryhearingloss.org/ ). (springeropen.com)
  • G high-frequency variants and explore strategies for clinical genetic diagnosis. (springeropen.com)
  • In light of this, a multiplicative gene-gene interaction model was developed to allow for estimating the combinatorial contribution of multiple genetic variants to disease risk. (cdc.gov)
  • Thirty V. parahaemolyticus strains isolated from this outbreak were initially investigated for the presence of virulence-related genes, serotyped, and subtyped by using pulse-field gel electrophoresis (PFGE). (cdc.gov)
  • A high proportion (29%) of 308 isolates from a beach site in the Great Lakes carried a pathotype set of virulence-related genes, and 14% carried antimicrobial resistance genes, findings consistent with a potential risk for public health. (canada.ca)
  • Population genetics deals with the gene frequencies, genotypes and phenotypes in the Mendelian population. (mathsjournal.com)
  • One of the basic Idea of population genetics is the Gene Frequency. (mathsjournal.com)
  • Advances in molecular and statistical genetics permit examination of quantitative traits such as the beta frequency of the human electroencephalogram in conjunction with DNA markers. (wustl.edu)
  • There were highly significant differences in allele frequencies between the ethnically diverse populations. (ox.ac.uk)
  • The allele frequencies were similar for Val (0.455) and Ile (0.545). (geneticsmr.com)
  • Joaçaba and Concórdia had the highest mutant allele frequencies (0.825 and 0.685, respectively). (geneticsmr.com)
  • Genetically, this phenomenon is characterized by an increase in allele frequencies in a population as a direct result of the selection effects caused by pesticides ( Braga and Valle, 2007a ). (geneticsmr.com)
  • Based on the product of single gene variant odds ratios, the risk of developing asthma was assigned to genotype profiles, and the frequency of each profile was estimated for the general population. (cdc.gov)
  • We have previously established that the spontaneous, genome-wide rate of gene duplication in C. elegans is two orders of magnitude higher than the point mutation rate [ 8 ]. (biomedcentral.com)
  • Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. (medlineplus.gov)
  • Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (medlineplus.gov)
  • Conclusion: The geographic distribution of gene mutation in Iranian cystic fibrosis patients was very heterogenic. (tanaffosjournal.ir)
  • SUMMARY A direct correlation between HIV infection and mutation in the chemokine receptor ( CCR5 ) gene has been established. (who.int)
  • We report the frequency of the CCR5 -delta 32 mutation in a random sample of 209 healthy, HIV-1 seronegative Lebanese aged 19-68. (who.int)
  • The frequency in the Lebanese population is consistent with that in the origin of the mutation in northern Europe. (who.int)
  • HIV-1 is influenced by a mutation in the 1 infection with a typical delay of 2-4 years chemokine receptor ( CCR5 ) gene [ 3,4 ]. (who.int)
  • DNA was eluted in In this study we report the frequency of 100 µL molecular biology grade water and the CCR5 -delta 32 mutation in the Lebanese stored at -20 °C. DNA concentrations population. (who.int)
  • We show that two outgroups are required for accurate estimation of the SFS if there is substantial variation in selective constraints, which is expected to be the case for nonsynonymous sites in protein-coding genes. (ed.ac.uk)
  • Multiple duplications and deletions rose to intermediate or high frequencies in independent populations. (biomedcentral.com)
  • Duplications that reached high frequencies in these adapting populations were significantly larger in span. (biomedcentral.com)
  • This distribution reflects the fact that sickle-cell trait confers a survival advantage against malaria and that selection pressure due to malaria has resulted in high frequencies of the mutant gene especially in areas of high malarial transmission. (who.int)
  • furthermore, when strains of Neurospora were engineered in which frq expression could be driven from a region distinct from the resident wild type gene, it was found that FRQ repressed its own expression and that no level of constant expression could support a circadian clock. (wikipedia.org)
  • The current study aimed to use Coagulase gene polymorphism to identify methicillin-resistant Staphylococcus aureus (MRSA) subtypes isolated from nasal carriers in Minia governorate, Egypt, evaluate the efficiency of these methods in discriminating variable strains, and compare these subtypes with antibiotypes. (hindawi.com)
  • The aim of this study was to use coa gene polymorphism to identify MRSA subtypes isolated from nasal carriers in Minia governorate, Upper Egypt, evaluate the efficiency of these typing methods in discriminating variable strains, and compare these subtypes with antibiotypes. (hindawi.com)
  • Since these genes are plasmidal and can be transmitted between E. coli strains, it is likely that stx1 and stx2 genes are also found in the Uropathogenic E. coli. (ac.ir)
  • The aim of this study was to evaluate the frequency of SHV, TEM and CTX-M genes in Escherichia Coli and Klebsiella Pneumoniae strains isolated from UTI in children in 17 Shahrivar hospital from Rasht city, Iran. (ac.ir)
  • 10. Jena J, Sahoo RK, Debata NK, Subudhi E. Prevalence of TEM, SHV, and CTX-M genes of extended-spectrum β-lactamase-producing Escherichia coli strains isolated from urinary tract infections in adults. (ac.ir)
  • Gene copy-number variation (CNVs), which provides the raw material for the evolution of novel genes, is widespread in natural populations. (biomedcentral.com)
  • The frequencies of CNVs in these populations were analyzed by oligonucleotide array comparative genome hybridization, quantitative PCR, PCR, DNA sequencing across breakpoints, and single-worm PCR. (biomedcentral.com)
  • Several lines of evidence suggest that these changes were adaptive: (i) copy-number changes reached high frequency or were fixed in a short time, (ii) many independent populations harbored CNVs spanning the same genes, and (iii) larger average size of CNVs in adapting populations relative to spontaneous CNVs. (biomedcentral.com)
  • Due to the high rates of origin of spontaneous duplications and deletions, copy-number changes containing the same genes arose readily in independent populations. (biomedcentral.com)
  • In contrast, natural selection for increased gene expression may represent an important mechanism by which duplicate gene copies are maintained in populations [ 14 ]. (biomedcentral.com)
  • Survey of the allelic frequency of a NOS2A promoter microsatellite in human populations: assessment of the NOS2A gene and predisposition to infectious disease. (ox.ac.uk)
  • The movement of genes between populations. (berkeley.edu)
  • The São Miguel do Oeste and Chapecó populations had similar frequencies of Val and Ile and were not in Hardy-Weinberg equilibrium, suggesting that a selection pressure or other evolutionary force has occurred. (geneticsmr.com)
  • In conclusion, the observed frequency of Ile/Ile homozygous individuals in the region studied requires attention, because the implementation of controls using pyrethroid may increase the frequency of the mutant allele through the selection of resistant populations. (geneticsmr.com)
  • Recently, genes called "G72" and "G30" were identified, and polymorphisms of these overlapping genes were reported to be associated with schizophrenia. (nih.gov)
  • Two polymorphisms of the TLR-2 gene have recently been described: Arg753Gln, correlated with the incidence of sepsis in a white population, and Arg677Trp, correlated with the incidence of lepromatous leprosy in an Asian population. (johnshopkins.edu)
  • Human alcoholism studies of genes identified through mouse quantitative trait locus analysis. (colorado.edu)
  • We performed transmission/disequilibrium testing (TDT) and haplotype analysis, since a linkage-disequilibrium block was present at this gene locus. (nih.gov)
  • Prevalence of Shiga toxin genes and intimin genes in uropathogenic Escherichia coli. (ac.ir)
  • Prevalence of Shiga toxin and Intimate genes in Shiga toxin-producing Escherichia coli isolated from urine samples in Lorestan, Iran. (ac.ir)
  • 2019). Frequency of sfa, cnf-1 and hly genes in Escherichia coli isolated in urine of patients with urinary tract infections. (ac.ir)
  • Prevalence of Shiga Toxin-Producing Genes in Escherichia Coli Isolated From Patients with Urinary Tract Infections in Khorramabad. (ac.ir)
  • Detection of STX1, STX2, LT and ST toxin genes, and O157 and H7 antigen genes among uropathogenic Escherichia coli isolated from Iran. (ac.ir)
  • 9. Komijani M, Bouzari M, Rahimi F. Detection of TEM, SHV and CTX-M Antibiotic Resistance Genes in Escherichia coli Isolates from Infected Wounds. (ac.ir)
  • Distribution of quinolone resistance gene (qnr) in ESBL-producing Escherichia coli and Klebsiella spp. (ac.ir)
  • About 5% of the world's population carries genes responsible for haemoglobinopathies. (who.int)
  • The research protocol saemia trait in all cases where the HbA2 mately 5% of the world's population was approved by the medical research gene was raised. (who.int)
  • Infections caused by V. parahaemolyti- carried genes for the variant of the type-3 secretion sys- cus have shown a steady expansion in recent years, with a tem 2 (T3SS2). (cdc.gov)
  • moreover, all were tdh -positive, trh -negative, and carried genes for the α variant of the type-3 secretion system 2 (T3SS2α). (cdc.gov)
  • These data suggest that a susceptibility variant for bipolar illness exists in the vicinity of the G72/G30 genes. (nih.gov)
  • The data suggest that exo + polymerase-mediated 3′ terminal phosphorothioate-modified primer extension is reliable in the identification of SLC26A4 gene high-frequency variant prior to high-resolution CT scan. (springeropen.com)
  • Previous studies revealed that SLC26A4 gene variant has obvious racial specificity, LVAS patients from different races with unique variant spectra and different variant frequencies (Berrettini et al. (springeropen.com)
  • Therefore, screening the high-frequency variant can early diagnose LVAS patients and find variant carriers and then taking measures to prevent further hearing loss by keeping LVAS patients from cold and head injury. (springeropen.com)
  • Stable Y-chromosomal polymorphism is difficult to reconcile with haplotype frequency variations without assuming frequency-dependent selection or specific interactions in the population dynamics of X- and Y-chromosomal genes, since otherwise the fittest haplotype would inevitably sweep to fixation. (oregonstate.edu)
  • These sex-ratio (SR) genes modify (suppress) gamete transmission in their own favour at a fitness cost, allowing for stable polymorphism. (oregonstate.edu)
  • Rainfall-driven sex-ratio genes in African buffalo suggested by correlations between Y-chromosomal haplotype frequencies and foetal sex ratio. (oregonstate.edu)
  • BACKGROUND: The Y-chromosomal diversity in the African buffalo (Syncerus caffer) population of Kruger National Park (KNP) is characterized by rainfall-driven haplotype frequency shifts between year cohorts. (oregonstate.edu)
  • RESULTS: Here we show temporal correlations between Y-chromosomal haplotype frequencies and foetal sex ratios in the KNP buffalo population, suggesting SR genes. (oregonstate.edu)
  • Many approaches for inferring adaptive molecular evolution analyze the unfolded site frequency spectrum (SFS), a vector of counts of sites with different numbers of copies of derived alleles in a sample of alleles from a population. (ed.ac.uk)
  • Genetic variation is essential for natural selection to operate since natural selection can only increase or decrease frequency of alleles already in the population. (berkeley.edu)
  • also called allele frequency) Proportion of genes/alleles in a population that are of a particular type. (berkeley.edu)
  • Gene conversion can be biased, tending to favor some alleles over others. (berkeley.edu)
  • We evaluated the frequency of these alleles in A. aegypti in west Santa Catarina. (geneticsmr.com)
  • Our analysis of frequency of the ApoE alleles in 38 patients with AD, 21 patients with FTD and 29 normal controls indicates an association of both AD and FTD with an increased frequency of the epsi4 allele and in AD also with homozygosity for epsi4. (lu.se)
  • Sickle-cell anaemia (also known as sickle-cell disorder or sickle-cell disease) is a common genetic condition due to a haemoglobin disorder - inheritance of mutant haemoglobin genes from both parents. (who.int)
  • Globally, there are more carriers (i.e. healthy people who have inherited only one mutant gene from one parent) of thalassaemia than of sickle-cell anaemia, but the high frequency of the sickle-cell gene in certain areas leads to a high rate of affected newborns. (who.int)
  • Frequencies of the carrier state determine the prevalence of sickle-cell anaemia at birth. (who.int)
  • For example, in Nigeria, by far the most populous country in the subregion, 24% of the population are carriers of the mutant gene and the prevalence of sickle-cell anaemia is about 20 per 1000 births. (who.int)
  • The sickle-cell gene has become common in Africa because the sickle-cell trait confers some resistance to falciparum malaria during a critical period of early childhood, favouring survival of the host and subsequent transmission of the abnormal haemoglobin gene. (who.int)
  • Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to sickle-cell anaemia and confers no such protection, and malaria is a major cause of ill-health and death in children with sickle-cell anaemia. (who.int)
  • Our data showed that the frequency of sickle cell mutational gene is second to β-thalassemia, α-thalassemia is the third one. (ijbc.ir)
  • The identified isolates were tested by Coagulase gene RFLP typing. (hindawi.com)
  • To evaluate frequency of SHV, TEM, and CTX-M genes in the isolates, the PCR method was used. (ac.ir)
  • Of 49 isolates, 89.8% had SHV gene, 89.8% had CTX-M gene, and 100% had TEM gene. (ac.ir)
  • We concluded that one of the reasons of increasing multi drug resistance in nosocomial isolates of UTI in Rasht may be an increase in horizontal transfer of plasmid genes between these isolates. (ac.ir)
  • For the first time, using a DNA microarray capable of detecting all currently described virulence genes and commonly found antimicrobial resistance genes, a survey of environmental E. coli isolates from recreational waters was carried out. (canada.ca)
  • The results also showed that another 8% of the isolates had unusual virulence gene combinations that would be missed by conventional screening. (canada.ca)
  • A study were briefed about the objectives the Hardy-Weinberg equilibrium p 2 + majority of the haemoglobinopathies are of the study and informed consent was 2 pq + q 2 = 1, where p is the frequency not clinically apparent but some produce obtained from each individual. (who.int)
  • The deleterious impact of nonsynonymous substitutions for all genes was computed and compared between cases (n = 13) and controls (n = 30). (nih.gov)
  • A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
  • In a four-year period (2000-2004), 93 voluntary couples from Khuzestan province (mostly Ahvaz area) who were proved to be carrier for alpha thalassemia, beta thalassemia, or other hemoglobinapathies underwent PND and detection of causative mutational genes by chorionic villus sampling {CVS) plus direct or indirect DNA analysis at first trimester of pregnancy. (ijbc.ir)
  • Gene and genome duplications are the primary source of new genes and have played a pivotal role in the evolution of genomic and organismal complexity [ 1 - 4 ]. (biomedcentral.com)
  • Population stratification in the candidate gene study: Fatal threat or red herring? (colorado.edu)
  • Allelic frequencies of a (CCTTT)(n) pentanucleotide repeat in the NOS2A promoter region were determined in a total of 1393 unrelated individuals from five specific population groups in four continents: Africa, Europe, Asia, and the Caribbean. (ox.ac.uk)
  • In the population genetic, individual genes have no meaning. (mathsjournal.com)
  • It is the gene pool consists of population that matters. (mathsjournal.com)
  • The gene pool consists of all the genes in all their allele forms in the reproductive gamates of the population. (mathsjournal.com)
  • Random changes in the gene frequencies of a population from generation to generation. (berkeley.edu)
  • This process causes gene frequencies in a population to drift around over time. (berkeley.edu)
  • Some genes may even "drift out" of a population (i.e., just by chance, some gene may reach a frequency of zero). (berkeley.edu)
  • All of the genes in a population. (berkeley.edu)
  • of the A allele in the population and q is serious life-threatening diseases and con- the frequency of the a allele in the popu- stitute a significant health care burden. (who.int)
  • The frequency (frq) gene encodes the protein frequency (FRQ) that functions in the Neurospora crassa circadian clock. (wikipedia.org)
  • The gene frequencies of abnormal haemoglobins have been determined in a group of 100,000 Jamaican newborns screened over a period of 8 1/2 years. (ox.ac.uk)
  • In addition to these common abnormalities, the frequencies of 256 rare abnormal haemoglobins are described. (ox.ac.uk)
  • High-frequency persistence of an impaired allele of the retroviral defense gene TRIM5alpha in humans. (colorado.edu)
  • Scholars@Duke publication: Correlates of Prenatal and Early-Life Tobacco Smoke Exposure and Frequency of Common Gene Deletions in Childhood Acute Lymphoblastic Leukemia. (duke.edu)
  • Frequency counts were checked, "skip" patterns were verified, and the reasonableness of question responses was reviewed. (cdc.gov)
  • In the Cambridge cohorts, the frequency of ecDNA increased between Barrett's-oesophagus-associated early-stage (24%) and late-stage (43%) EAC, suggesting that ecDNA is formed during cancer progression. (nature.com)
  • Using a robust gene pairing approach, which effectively eliminates batch effects across heterogeneous patient cohorts and transcriptomic data, we developed an immunity and pyroptosis-related prognostic (IPRP) signature that consists of 15 genes. (nature.com)
  • DNA repair genes, electromagnetic fields and susceptibility to acute leukemia? (emf-portal.org)
  • Low frequency of ESRRA-C11orf20 fusion gene in ovarian carcinomas. (nih.gov)
  • ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinoma. (nih.gov)
  • and 4) Conclusions: It seems that the frequency of verotoxin genes in E. coli causing urinary tract infections in Kermanshah is more than the other parts of Iran. (ac.ir)
  • 12. Yousefi P, Cyrus A, Moghaddasi Z, Dorreh F, Aravand A. The Frequency of Recurrence of Urinary Tract Infection (UTI) in 1- Month to 12-Year-Old Children without Congenital Abnormalities Referred to Arak Amir Kabir Hospital. (ac.ir)
  • The Original Frequency is the frequency that the human body should naturally be at. (genesluggage.com)
  • Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
  • The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
  • A total of 1.5 million putative gene-disease and 1.4 million putative gene-compound sentences and their PubMed Reference Identifiers were extracted by Biomax LT. Subsequent careful reading of these sentences by expert human curators showed that approximately two-thirds of the sentences extracted by the Biomax LT tool were correct. (nih.gov)
  • pendent of those associated with cretory ducts, columnar epithelia the KRAS gene is more frequent- other key mechanistic characteris- lining the gastrointestinal tract and ly mutated in human cancer, which tics of IARC Group 1 carcinogens. (who.int)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • The defect may be present at either of 2 different gene loci. (medscape.com)
  • The Gene Term Dictionary was based the union of HUGO Gene Nomenclature Committee (HGNC), LocusLink, and the Gene Database (GDB) data. (nih.gov)
  • On the other hand, E. coli producing Shiga toxin (STEC), the so-called Verotoxinproducing E. coli (VTEC), has two stx1 and stx2 genes (Producing Stx1 and Stx2 toxins). (ac.ir)
  • Reflecting its role as a core clock protein, deletion of the frq gene results in arrhythmicity, and in Neurospora, the only function of FRQ is in the circadian clock. (wikipedia.org)
  • 2002, while the estimated number could be deletion in the CCR5 gene [ 5,6 ]. (who.int)
  • In this retrospective multi-cohort study, we investigated whether combining pyroptosis- and immune-related genes improves prognostic classification of AML patients. (nature.com)
  • Recent studies have shown that pyroptosis-related genes are associated with the prognosis of cancer patients. (nature.com)
  • In the current study, 640 patients with Barrett esophagus and high-grade dysplasia or esophageal adenocarcinoma were tested for the presence and frequency of cancer-predisposing genes. (medscape.com)
  • We report a significant linkage and linkage disequilibrium between beta frequency and a set of GABA A receptor genes. (wustl.edu)
  • Both epidemiological (1) and experimental studies (2) suggest that the ISO 5349 frequency weighting curve may not place enough weight on exposure to mid-range vibration frequencies (i.e., 100-500 Hz). (cdc.gov)
  • In contrast, alpha thalassaemia was quite common, occurring with a gene frequency of 0.183. (ox.ac.uk)
  • The gene frequency of different hae- thalassaemia, the percentage of carriers Centre. (who.int)
  • Outputs of the Neurospora circadian clock include carotenoid synthesis as well as the asexual spore formation seen on race tubes, and recent evidence suggests that thousands of genes are under circadian control. (wikipedia.org)
  • Homozygosity (Ile/Ile) at position 1016 in the coding region of a voltage-dependent sodium channel gene ( Na v ) may induce resistance to pyrethroid insecticides. (geneticsmr.com)
  • DNA sequence analysis of the 3′-end of the Coagulase ( coa ) gene revealed heterogeneity in the 81 bp tandem repeats region that encoding repeated 27-amino-acid sequences in the C-terminal region. (hindawi.com)
  • As part of the caBIG® initiative, the NCI contractors Biomax™ Informatics AG and their partner Sophic Systems Alliance, Inc. created the Cancer Gene Index by using mining millions of MEDLINE abstracts with a combination of automated linguistic text analysis and manual validation and annotation by expert curators. (nih.gov)
  • The Biomax™ LT Linguistic Analysis Tool, a natural language processing tool, was used to mine the text of approximately 90 million total sentences from nearly 20 million MEDLINE abstracts to select those sentences that contained meaningful information about associations between gene names and disease or compound terms (e.g., contained terms from both the Gene and Disease Term or the Gene and Compound Term lexical dictionaries). (nih.gov)
  • The significant genes were annotated with Gene Ontology (GO), and the associated disease terms were categorised into four functional classes for functional enrichment tests. (nih.gov)
  • Despite significant effort to standardize nomenclature for biological entities, multiple terminologies for the same compound, disease, or gene are often found within the scientific literature. (nih.gov)
  • In addition, researchers may invent new terms for biological concepts (e.g., the actual compound, disease, or gene to which the various names, acronyms, and abbreviations refer) with established names, and this phenomenon is seen frequently for genes. (nih.gov)
  • In order to mine the MEDLINE abstracts for sentences that contained information about gene-disease or gene-compound associations, lexical dictionaries were created from the NCI Thesaurus, public name catalogs, public classifications, and terms from the MEDLINE abstracts. (nih.gov)
  • Biomax™ LT is a sensitive text mining tool, such that any sentence with a putative gene-disease or gene-compound relationship was not omitted during the automated text mining phase. (nih.gov)
  • Gene-environment interactions are an example of phenotypic plasticity . (berkeley.edu)
  • The aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, Shafa hospital, affiliated to Ahvaz Jondidishapur University of Medical Sciences (AJUOMS), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (PND). (ijbc.ir)
  • The goal of this study was to characterize the frequency-dependent effects of repeated vibration exposures (i.e., 10 days) on peripheral nerve function and biology. (cdc.gov)
  • We identified 28 genes that showed significantly lower gene-wise deleteriousness scores in cases than in controls. (nih.gov)
  • The significantly identified genes were categorized into four functional classes: ion binding, ATP binding, Ca 2+ -related, and ciliopathies-related. (nih.gov)
  • A significantly higher epsi2 frequency in our FTD material compared to AD and normals might also indicate a connection with the distribution of cortical degeneration. (lu.se)