Gene Frequency
Alleles
Selection, Genetic
Indians, South American
Genetics, Population
Polymorphism, Genetic
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Models, Genetic
Heterozygote
Blood Group Antigens
Genotype
Electrophoresis, Starch Gel
Phosphoglucomutase
Genes, Dominant
Genetic Linkage
Phenotype
Mathematics
Ethnic Groups
Pedigree
Gaucher Disease
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Biological Evolution
Genetic Markers
Haptoglobins
Mutation
Chromosome Mapping
HLA Antigens
Models, Biological
Enzymes
Genes
African Continental Ancestry Group
Polymorphism, Restriction Fragment Length
Haplotypes
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Computer Simulation
Lod Score
Erythrocytes
Base Sequence
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
European Continental Ancestry Group
Vibration
The Lewontin and Krakauer test on quantitative characters. (1/13203)
It is shown that LEWONTIN and KRAKAUER's test could also be applied to quantitative characters that do not show important dominance and epistatic genetic variances. The design of experiments for this purpose and the error of the estimation of F are discussed. (+info)Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura. (2/13203)
An experimental plan for an exhaustive determination of genic variation at structural gene loci is presented. In the initial steps of this program, 146 isochromosomal lines from 12 geographic populations of D. pseudoobscura were examined for allelic variation of xanthine dehydrogenase by the serial use of 4 different electrophoretic conditions and a head stability test. The 5 criteria revealed a total of 37 allelic classes out of the 146 genomes examined where only 6 had been previously revealed by the usual method of gel electrophoresis. This immense increase in genic variation also showed previously unsuspected population differences between the main part of the species distribution and the isolated population of Bogota population. The average heterozygosity at the Xdh locus is at least 72% in natural populations. This result, together with the very large number of alleles segregating and the pattern of allelic frequencies, has implications for theories of genetic polymorphism which are discussed. (+info)Polymorphism in a cyclic parthenogenetic species: Simocephalus serrulatus. (3/13203)
A survey of sixteen isozyme loci using electrophoretic techniques was conducted for three isolated natural populations and one laboratory population of the cyclic parthenogenetic species, Simocephalus serrulatus. The proportion of polymorphic loci (33%-60%) and the average number of heterozygous loci per individual (6%-23%) in the three natural populations were found to be comparable to those found in most sexually reproducing organisms. Detailed analyses were made for one of these populations using five polymorphic loci. The results indicated that (1) seasonal changes in genotypic frequencies took place, (2) apomicitic parthenogenesis does not lead to genetic homogeneity, and (3) marked gametic disequilibrium at these five loci was present in the population, indicating that selection acted on coadapted groups of genes. (+info)Testing for selective neutrality of electrophoretically detectable protein polymorphisms. (4/13203)
The statistical assessment of gene-frequency data on protein polymorphisms in natural populations remains a contentious issue. Here we formulate a test of whether polymorphisms detected by electrophoresis are in accordance with the stepwise, or charge-state, model of mutation in finite populations in the absence of selection. First, estimates of the model parameters are derived by minimizing chi-square deviations of the observed frequencies of genotypes with alleles (0,1,2...) units apart from their theoretical expected values. Then the remaining deviation is tested under the null hypothesis of neutrality. The procedure was found to be conservative for false rejections in simulation data. We applied the test to Ayala and Tracey 's data on 27 allozymic loci in six populations of Drosophila willistoni . About one-quarter of polymorphic loci showed significant departure from the neutral theory predictions in virtually all populations. A further quarter showed significant departure in some populations. The remaining data showed an acceptable fit to the charge state model. A predominating mode of selection was selection against alleles associated with extreme electrophoretic mobilities. The advantageous properties and the difficulties of the procedure are discussed. (+info)Associations of anti-beta2-glycoprotein I autoantibodies with HLA class II alleles in three ethnic groups. (5/13203)
OBJECTIVE: To determine any HLA associations with anti-beta2-glycoprotein I (anti-beta2GPI) antibodies in a large, retrospectively studied, multiethnic group of 262 patients with primary antiphospholipid antibody syndrome (APS), systemic lupus erythematosus (SLE), or another connective tissue disease. METHODS: Anti-beta2GPI antibodies were detected in sera using an enzyme-linked immunosorbent assay. HLA class II alleles (DRB1, DQA1, and DQB1) were determined by DNA oligotyping. RESULTS: The HLA-DQB1*0302 (DQ8) allele, typically carried on HLA-DR4 haplotypes, was associated with anti-beta2GPI when compared with both anti-beta2GPI-negative SLE patients and ethnically matched normal controls, especially in Mexican Americans and, to a lesser extent, in whites. Similarly, when ethnic groups were combined, HLA-DQB1*0302, as well as HLA-DQB1*03 alleles overall (DQB1*0301, *0302, and *0303), were strongly correlated with anti-beta2GPI antibodies. The HLA-DR6 (DR13) haplotype DRB1*1302; DQB1*0604/5 was also significantly increased, primarily in blacks. HLA-DR7 was not significantly increased in any of these 3 ethnic groups, and HLA-DR53 (DRB4*0101) was increased in Mexican Americans only. CONCLUSION: Certain HLA class II haplotypes genetically influence the expression of antibodies to beta2GPI, an important autoimmune response in the APS, but there are variations in HLA associations among different ethnic groups. (+info)Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease. (6/13203)
BACKGROUND: Cytokine gene variations are contributory factors in inflammatory pathology. Allele frequencies of interleukin (IL)-1 cluster genes [IL-1A(-889), IL-1B(-511), IL-1B(+3953), IL-1RN Intron 2 VNTR] and tissue necrosis factor (TNF)-alpha gene [TNFA(-308)] were measured in healthy blood donors (healthy control subjects), patients with angiographically normal coronary arteries (patient control subjects), single-vessel coronary disease (SVD), and those with multivessel coronary disease (MVD). METHODS AND RESULTS: Five hundred fifty-six patients attending for coronary angiography in Sheffield were studied: 130 patient control subjects, 98 SVD, and 328 MVD. Significant associations were tested in an independent population (London) of 350: 57 SVD, 191 MVD, and 102 control subjects. IL-1RN*2 frequency in Sheffield patient control subjects was the same as in 827 healthy control subjects. IL-1RN*2 was significantly overrepresented in Sheffield SVD patients (34% vs 23% in patient control subjects); IL-1RN*2 homozygotes in the SVD population (chi2 carriage=8.490, 1 df, P=0.0036). This effect was present though not quite significant in the London population (P=0. 0603). A summary trend test of the IL-1RN SVD genotype data for Sheffield and London showed a significant association with *2 (P=0. 0024). No significant effect of genotype at IL-1RN was observed in the Sheffield or London MVD populations. Genotype distribution analysis comparing the SVD and MVD populations at IL-1RN showed a highly significant trend (P=0.0007) with the use of pooled data. No significant associations were seen for the other polymorphisms. CONCLUSIONS: IL-1RN*2 was significantly associated with SVD. A difference in genetic association between SVD and MVD was also apparent. (+info)Novel regions of allelic deletion on chromosome 18p in tumors of the lung, brain and breast. (7/13203)
Lung cancer is now the number one cause of cancer death for both men and women. An age-adjusted analysis over the past 25 years shows that in women specifically, lung cancer incidence is on the rise. It is estimated that 10-20 genetic events including the alteration of oncogenes and tumor suppressor genes will have occurred by the time a lung tumor becomes clinically evident. In an effort to identify regions containing novel cancer genes, chromosome 18p11, a band not previously implicated in disease, was examined for loss of heterozygosity (LOH). In this study, 50 matched normal and NSCLC tumor samples were examined using six 18p11 and one 18q12.3 PCR-based polymorphic markers. In addition, LOH was examined in 29 glioblastoma pairs and 14 paired breast carcinomas. This analysis has revealed potentially two regions of LOH in 18p11 in up to 38% of the tumor samples examined. The regions of LOH identified included a 2 cm area between markers D18S59 and D18S476, and a more proximal, 25 cm region of intermediate frequency between D18S452 and D18S453. These results provide evidence for the presence of one or more potential tumor suppressor genes on the short arm of chromosome 18 which may be involved in NSCLC, brain tumors and possibly breast carcinomas as well. (+info)Genetic polymorphism and interethnic variability of plasma paroxonase activity. (8/13203)
A method for determining plasma paroxonase activity using an auto-analyser is described. Frequency distributions for British and Indian subjects show bimodality. A study of 40 British families confirms the presence of a genetic polymorphism with regard to plasma paroxonase activity. Two phenotypes can be defined, controlled by two alleles at one autosomal locus. The frequency of the low activity phenotype is less in the Indian population than in the British population. Malay, Chinese, and African subjects fail to show obvious bimodality. (+info)
Temporal allele frequency change and estimation of effective size in populations with overlapping generations. | Genetics
Estimating the effective population size from temporal allele frequency changes in experimental evolution
Identifying consistent allele frequency differences in studies of stratified populations
Common SNPs(142) Track Settings
Common SNPs(142) Track Settings
Common SNPs(142) Track Settings
Common SNPs(142) Track Settings
Genome-Wide Scan for Adaptive Divergence and Association with Population-Specific Covariates | Haldanes Sieve
Population and Evolutionary Genetics
MATH IN GENETICS AND GENOMICS | Department of Mathematics
Population and Evolutionary Genetics
Hardy-Weinberg Tutorial | Sophia Learning
Genetics PPT
Gene Frequency - Biology-Online
Submissions for variant NM 000103.4(CYP19A1):c.*1888A|T -
ClinVar Miner
Submissions for variant NM 000059.4(BRCA2):c.6323G|A (p.Arg2108His) (rs35029074) -
ClinVar Miner
Review of allele and genotypic frequencies
ExAC includes WES of phenotyped population
Sandwalk: 2016
Sandwalk: September 2016
Sandwalk: September 2016
What Are the Five Parts of the Hardy-Weinberg Equilibrium? | Education - Seattle PI
R-Forge: Software Map
R-Forge: Software Map
Define how to make a histogram and a frequency distribution, Basic Statistics
Table 2
Statistics Questions - Frequency Distributions/Tables
Statistics Questions - Frequency Distributions/Tables
Statistics - Benfords law (frequency distribution of digits) [Gerardnico]
Constructing Frequency Tables | Frequency Distribution
high frequency screening with high frequency screening which
Frequency distribution
Rife Frequency Research
Warburgs Lens: A Mathematical oncology pre-print discussion forum: Allele Frequency Spectrum in a Cancer Cell Population
Estimation of allele frequency and association mapping using next-generation sequencing data | BMC Bioinformatics | Full Text
Dienekes Anthropology Blog: Rare and common genetic variants in humans
Hardy-Weinberg equilibrium | definition of Hardy-Weinberg equilibrium by Medical dictionary
NGS-resources: Fwd: Estimating inbreeding coefficients from NGS data: impact on genotype calling and allele frequency...
Schema for Flagged SNPs(142) - Simple Nucleotide Polymorphisms (dbSNP 142) Flagged by dbSNP as Clinically Assoc
Hardy-Weinberg Equilibrium
Quantitative high resolution melting: two methods to determine SNP allele frequencies from pooled samples - pdf descargar
Dienekes Anthropology Blog: Map of mobile insertions in human genomes
Basic glossary on genetic epidemiology | Journal of Epidemiology & Community Health
Gene Frequency - Genetics - Science Forums
PLOS Genetics: The Impact of Divergence Time on the Nature of Population Structure: An Example from Iceland
PLOS Genetics: The Impact of Divergence Time on the Nature of Population Structure: An Example from Iceland
Experts and Doctors on gene frequency in Los Angeles, California, United States
Genotype Frequency | DAGRIS
New pre-print: Comparison of single genome and allele frequency data reveals discordant demographic histories - Annabel...
Stationary Allele Frequency Distributions
EvoTutor: Genetic Drift and Allelic Frequency
Common SNPs(147) Track Settings
Population Genetics PPT | easybiologyclass
Flagged SNPs(146) Track Settings
Frequency (gene)
The frequency (frq) gene encodes the protein frequency (FRQ) that functions in the Neurospora crassa circadian clock. The FRQ ... "The Neurospora clock gene frequency shares a sequence element with the Drosophila clock gene period". Nature. 339 (6225): 558- ... it binds to the clock-box within frequency (frq) gene promoter and activates frq transcription. It has recently been shown that ... "Temperature-modulated alternative splicing and promoter use in the Circadian clock gene frequency". Molecular Biology of the ...
Allele frequency spectrum
Wright, Sewall (1938). "The distribution of gene frequencies under irreversible mutation". Proc. Natl. Acad. Sci. USA. 24 (7): ... The folded frequency spectrum stores the observed counts of the minor (most rare) allele frequencies. The folded spectrum can ... The joint allele frequency spectrum (JAFS) is the joint distribution of allele frequencies across two or more related ... Each entry in the frequency spectrum records the total number of loci with the corresponding derived allele frequency. Loci ...
Genetic distance
Gene frequency data". J. Mol. Evol. 19 (2): 153-170. doi:10.1007/bf02300753. PMID 6571220. S2CID 19567426.{{cite journal}}: CS1 ... In the genome of an organism, each gene is located at a specific place called the locus for that gene. Allelic variations at ... If FST is small, it means that allele frequencies within each population are very similar; if it is large, it means that allele ... Let X u {\displaystyle X_{u}} represent the u {\displaystyle u} th allele frequency at the l {\displaystyle l} th locus. In ...
Masatoshi Nei
Gene frequency data". J. Mol. Evol. 19 (2): 153-170. doi:10.1007/bf02300753. PMID 6571220. S2CID 19567426. Nei, M (1973). " ... Recent molecular data indicate that many sets of interacting genes such as Hox genes, immunoglobulin genes, and histone genes ... In some gene families, this process is very fast, caused by random events of gene duplication and gene deletion and generates ... and gene inactivation, he predicted that higher organisms contain a large number of duplicate genes and nonfunctional genes ( ...
Frequency-dependent selection
"A general method for investigating the equilibrium of gene frequency in a population". Genetics. 43 (3): 419-434. PMC 1209891. ... Frequency-dependent selection may explain the high degree of polymorphism in the MHC. In behavioral ecology, negative frequency ... frequency-dependent selection includes when biological interactions make an individual's fitness depend on the frequencies of ... fitnesses become very low at intermediate allele frequencies. The first explicit statement of frequency-dependent selection ...
Coeliac disease
The frequency of these genes varies geographically. DQ2.5 has high frequency in peoples of North and Western Europe (Basque ... The reason these genes produce an increase in the risk of coeliac disease is that the receptors formed by these genes bind to ... The two subunits of the HLA-DQ protein are encoded by the HLA-DQA1 and HLA-DQB1 genes, located on the short arm of chromosome 6 ... Most people with coeliac bear a two-gene HLA-DQ2 haplotype referred to as DQ2.5 haplotype. This haplotype is composed of two ...
Effective population size
Buri, P (1956). "Gene frequency in small populations of mutant Drosophila". Evolution. 10 (4): 367-402. doi:10.2307/2406998. ... This measurement was achieved through studying changes in the frequency of a neutral allele from one generation to another in ... Measured coalescent effective population sizes vary between genes in the same population, being low in genome areas of low ... In the Wright-Fisher idealized population model, the conditional variance of the allele frequency p ′ {\displaystyle p'} , ...
Allele Frequency Net Database
The Allele Frequency Net Database is a database containing the allele frequencies of immune genes and their corresponding ... a database and online repository for immune gene frequencies in worldwide populations". Nucleic Acids Res. England. 39 ( ... Allele Frequency Net Database v t e (Biological databases, Immunology, Population genetics, All stub articles, Biological ... Gonzalez-Galarza, Faviel F; Christmas Stephen; Middleton Derek; Jones Andrew R (Jan 2011). "Allele frequency net: ...
NEDD8
Epigenetically silenced DNA repair genes occur frequently in the 17 most common cancers (see e.g. Frequency of hypermethylation ... Gene silencing of a DNA repair gene at the transcription level is proposed to act similarly to a germ-line mutation in a DNA ... As discussed by Jin and Roberston in their review, silencing of a DNA repair gene by hypermethylation of its promoter may be a ... NEDD8 is a protein that in humans is encoded by the NEDD8 gene. (in saccharomyces cerevisiae this protein is known as Rub1) ...
Transfer DNA
"High-frequency T-DNA-mediated gene tagging in plants". Proceedings of the National Academy of Sciences of the United States of ... In genetic engineering, the tumor-promoting and opine-synthesis genes are removed from the T-DNA and replaced with a gene of ... To interact with host plant proteins many Agrobacterium virulence proteins encoded by vir genes. Agrobacterium vir gene ... resistance gene and can explicit approximately 30% of average efficiency having successful T-DNA inserts induced gene fusions ...
Microbial ecology
McDaniel, L. D.; Young, E.; Delaney, J.; Ruhnau, F.; Ritchie, K. B.; Paul, J. H. (2010). "High Frequency of Horizontal Gene ... Due to the high level of horizontal gene transfer among microbial communities, microbial ecology is also of importance to ... Smets, Barth F.; Barkay, Tamar (2005). "Horizontal gene transfer: Perspectives at a crossroads of scientific disciplines". ... PCR amplification of small subunit rRNA gene sequences, (c) sequencing the amplicons, and (d) comparison of the those sequences ...
White Collar-2
White Collar-1 Frequency gene Neurospora crassa Liu, Y.; He, Q.; Cheng, P. (2003-10-01). "Photoreception in Neurospora: a tale ... mapped all the gene loci of Neurospora crassa and located the wc-2 gene. WC-2 is a nuclear protein (56,895 Da) composed of 530 ... In this context, WCC regulates expression of the Frequency (FRQ) gene, a light-induced clock protein. In 1959, Pittendrigh et ... Nevertheless, the WCC drives expression of the frq gene and other light-dependent genes. WC-1 is always found at the frq ...
Reflux nephropathy
The gene frequency is estimated to be 1:600. The American Academy of Pediatrics recommends that children from 2 to 24 months ...
Kin selection
Formally, genes should increase in frequency when r B > C {\displaystyle rB>C} where r = the genetic relatedness of the ... According to Hamilton's rule, kin selection causes genes to increase in frequency when the genetic relatedness of a recipient ... Kin selection causes changes in gene frequency across generations, driven by interactions between related individuals. This ... a gene encoding a trait that enhances the fitness of each individual carrying it should increase in frequency within the ...
Earlobe
Chaisson, L. P. (1963). "Gene frequencies in the Micmac Indians". J. Hered. 54 (2): 229-36. doi:10.1093/oxfordjournals.jhered. ... An Analysis of the Causes of Variation in Blood Group and Other Gene Frequencies in a Small Population". Phys. Anthrop., 144. ... "attached" appearance of earlobes is often presented as an example of a simple "one gene - two alleles" Mendelian trait in ... Tiwari, S. C.; Bhasin, M. K. (1969). "Frequency of hand clasping and ear lobe attachment in Tibetians". J. Hered. 19 (4): 658- ...
Joseph Gaertner
Back cross increases nuclear gene frequency His observations were: 1. Dominance of traits 2. Equal contribution of male and ...
Wolfram-like syndrome
"WFS1 Gene Sequencing for Low Frequency Non Syndromic Hearing Loss , PCPGM". personalizedmedicine.partners.org. Retrieved 2022- ... October 2001). "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss ... April 2014). "WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case". Gene. ... In rare cases, a mutation in the CDK13 gene instead of the WFS1 gene is responsible for the disorder, this genetic mutation has ...
Sewall Wright
2, Theory of Gene Frequencies. ISBN 0-226-91039-3 vol. 3, Experimental Results and Evolutionary Deductions. ISBN 0-226-91040-7 ... Wright, Sewall (1948). "On the Roles of Directed and Random Changes in Gene Frequency in the Genetics of Populations". ... Wright, S. (1937). "The Distribution of Gene Frequencies in Populations". Proceedings of the National Academy of Sciences. 23 ( ... and along with Fisher he pioneered methods for computing the distribution of gene frequencies among populations as a result of ...
Literature on the Amish
Wood Klinger, K. (1983). "Cystic fibrosis in the Ohio Amish: Gene frequency and founder effect". Human Genetics. 65 (2): 94-98 ... "Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old ... "Identification of Novel Candidate Genes for Type 2 Diabetes from a Genome-Wide Association Scan in the Old Order Amish: ...
Genome editing
"High-frequency modification of plant genes using engineered zinc-finger nucleases". Nature. 459 (7245): 442-5. Bibcode: ... Targeted gene mutation Gene therapy Creating chromosome rearrangement Study gene function with stem cells Transgenic animals ... If a vital gene is knocked out it can prove lethal to the organism. In order to study the function of these genes site specific ... The ideal gene therapy practice is that which replaces the defective gene with a normal allele at its natural location. This is ...
Restriction enzyme
Wayengera M, Kajumbula H, Byarugaba W (2007). "Frequency and site mapping of HIV-1/SIVcpz, HIV-2/SIVsmm and Other SIV gene ... To clone a gene fragment into a vector, both plasmid DNA and gene insert are typically cut with the same restriction enzymes, ... Wayengera M (2003). "HIV and Gene Therapy: The proposed [R-M enzymatic] model for a gene therapy against HIV". Makerere Med J. ... They are used to assist insertion of genes into plasmid vectors during gene cloning and protein production experiments. For ...
Genetic variability
Being controlled by genes means that recombination is variable in frequency. Immigration, emigration, and translocation - each ... Recombination is random[citation needed] and is governed by its own set of genes. ...
Zinc finger nuclease
Townsend JA, Wright DA, Winfrey RJ, Fu F, Maeder ML, Joung JK, Voytas DF (2009). "High-frequency modification of plant genes ... such as the IL2Rγ gene and the β-globin gene for gene correction and CCR5 gene for mutagenesis and disablement. If the zinc ... The success of gene therapy depends on the efficient insertion of therapeutic genes at an appropriate chromosomal target site ... Carroll D (2008). "Zinc-finger Nucleases as Gene Therapy Agents". Gene Therapy. 15 (22): 1463-1468. doi:10.1038/gt.2008.145. ...
Lewis C. Cantley
April 2004). "High frequency of mutations of the PIK3CA gene in human cancers". Science. 304 (5670): 554. doi:10.1126/science. ... Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J (October 2002). "Tuberous sclerosis complex-1 and -2 gene ... Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J (August 2003). "Tuberous sclerosis complex gene products, Tuberin and ... especially in light of the discovery that the PIK3CA gene encoding PI-3-kinase is an oncogene. In recent years Cantley and ...
FOXO4
"High frequency of mutations of the PIK3CA gene in human cancers". Science. 304 (5670): 554. doi:10.1126/science.1096502. PMID ... breakpoint from a leukemic cell line identify a new member of the forkhead gene family". Genes Chromosomes Cancer. 11 (2): 79- ... Xu MM, Mao GX, Liu J, Li JC, Huang H, Liu YF, Liu JH (2014). "Low expression of the FoxO4 gene may contribute to the phenomenon ... Forkhead box protein O4 is a protein that in humans is encoded by the FOXO4 gene. FOXO4 is a member of the forkhead family ...
Yardena Samuels
23 April 2004). "High frequency of mutations of the PIK3CA gene in human cancers". Science. 304 (5670): 554. doi:10.1126/ ... "Looking for the Genes that Drive Cancer , Weizmann USA". American Committee for the Weizmann Institute of Science. 2012-12-01. ... She identified that the gene encoding PI3-Kalpha is mutated in one third of colorectal cancer patients. During this position, ... The bank helps scientists identify genes that are associated with tumour growth. Samuels' research involves the use of DNA ...
Bert Vogelstein
April 2004). "High frequency of mutations of the PIK3CA gene in human cancers". Science. 304 (5670): 554. doi:10.1126/science. ... His group's more recent studies examining the entire compendium of human genes have shown that the TP53 gene is more frequently ... discovered another tumor suppressor gene. This gene, called APC, was responsible for Familial Adenomatous Polyposis (FAP), a ... But there was no evidence that p53 played a major role in human cancers, and the gene encoding p53 (TP53) was thought to be an ...
Martha Merrow
"Assignment of circadian function for the Neurospora clock gene frequency" (PDF). Nature. 399 (6736): 584-586. Bibcode:1999Natur ... While she was a professor of Chronobiology at University of Groningen, Merrow led Sub-Project 4: Novel Clock Genes and ... Merrow's lab often uses techniques such as the insertion of Luciferase gene fusions or Green Fluroescent Protein to visualize ... "Sub-Project 4: Novel Clock Genes and Principles". Retrieved 2017-04-27. "European Biological Rhythms Society board members". ...
Genetic engineering
The frequency of gene targeting can be greatly enhanced through genome editing. Genome editing uses artificially engineered ... One way to do this is to replace the wild-type gene with a 'fusion' gene, which is a juxtaposition of the wild-type gene with a ... The next step is to isolate the candidate gene. The cell containing the gene is opened and the DNA is purified. The gene is ... As well as inserting genes, the process can be used to remove, or "knock out", genes. The new DNA can be inserted randomly, or ...
Dysmenorrhea
September 2013). "Increased frequency of MEFV gene mutations in patients with primary dysmenorrhea". Modern Rheumatology. 23 (5 ... Genes related to immunity have been identified as playing a significant role in PD as well. IL1A was found to be the gene most ... There have been multiple polymorphisms and genetic variants in both metabolic genes and genes responsible for immunity which ... Polymorphisms in the ESR1 gene have been commonly associated with severe dysmenorrhea. Variant genotypes in the metabolic genes ...
Prostaglandin-endoperoxide synthase 2
PTGS2 gene upregulation has also been linked with multiple stages of human reproduction. Presence of gene is found in the ... Cyclooxygenases blocking by lornoxicam in acute stage of inflammation reduced the frequency of membrane formation by 43% in the ... 2014, doi:10.1186/1471-2393-14-241 Li Y, He W, Liu T, Zhang Q (December 2010). "A new cyclo-oxygenase-2 gene variant in the Han ... "Prostaglandin pathway gene expression in human placenta, amnion and choriodecidua is differentially affected by preterm and ...
Scarring hair loss
Hair care products and shampoos can generally be used with any frequency desired, as long as the products are gentle and non- ... "Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways". PNAS Nexus. 1 (3): ...
Baum-Welch algorithm
The GLIMMER (Gene Locator and Interpolated Markov ModelER) software was an early gene-finding program used for the ... which is the expected frequency spent in state i {\displaystyle i} at time 1 {\displaystyle 1} . a i j ∗ = ∑ t = 1 T − 1 ξ i j ... or multiple genes (or even no gene at all) is present. GENSCAN was shown to exactly predict exon location with 90% accuracy ... locations compared to confirmed genes in prokaryotes. The GENSCAN webserver is a gene locator capable of analyzing eukaryotic ...
Sequence motif
A position frequency matrix (PFM) records the position-dependent frequency of each residue or nucleotide. PFMs can be ... When a sequence motif appears in the exon of a gene, it may encode the "structural motif" of a protein; that is a stereotypical ... The E. coli lactose operon repressor LacI (PDB: 1lcc chain A) and E. coli catabolite gene activator (PDB: 3gap chain A) both ... For example, by aligning the amino acid sequences specified by the GCM (glial cells missing) gene in man, mouse and D. ...
PlayStation 5
... the boost system may reduce its frequency and increase the frequency of the GPU for higher performance without otherwise ... Park, Gene (September 17, 2020). "PlayStation CEO Jim Ryan says more PlayStation 5 units will be available than PS4s in 2013". ... The GPU has 36 compute units running at a variable frequency capped at 2.23 GHz, making it capable of a peak theoretical ... integrating a custom 7 nm AMD Zen 2 CPU with eight cores running at a variable frequency capped at 3.5 GHz. The integrated GPU ...
Job interview
Weinstein, Eugene A.; Beckhouse, Lawrence S.; Blumstein, Philip W.; Stein, Robert B. (December 1968). "Interpersonal strategies ... Nonverbal behaviors can be divided into two main categories: vocal cues (e.g., articulation, pitch, fluency, frequency of ... doi:10.1111/j.1744-6570.2000.tb00217.x. Kutcher, Eugene J.; Bragger, Jennifer D.; Masco, Jamie L. (September 2013). "How ... Hosoda, Megumi; Stone-Romero, Eugene F.; Coats, Gwen (June 2003). "The effects of physical attractiveness on job-related ...
Shiladitya DasSarma
DasSarma, S.; RajBhandary, U. L.; Khorana, H. G. (1983-04-01). "High-frequency spontaneous mutation in the bacterio-opsin gene ... his work also suggested that certain genes are acquired through horizontal gene transfers, such as the genes for aerobic ... Coker, James A.; DasSarma, Shiladitya (2007-01-01). "Genetic and transcriptomic analysis of transcription factor genes in the ... and the function of many genes and genetic elements, including multiple replication origins, general transcription factors, and ...
Pulmonary agenesis
High frequency of associated abnormalities (see the section - "Associated Abnormalities" for details) may also lead to ... It has been said that the gene responsible for the cause of pulmonary agenesis may have variable expressivity and penetrance. ...
Papillary carcinomas of the breast
ASCL1 protein encoded by the ASCL1 gene, Dok-7 protein encoded by the DOK7 gene, enolase 2 encoded by the ENOL2 gene, ... Information on the frequency and clinical features of PDCIS is limited since it and EPC were regarded as the same lesion termed ... Alterations in these two genes are, similar to alterations in the PIK3CA gene, associated with the development and/or ... synaptophysin encoded by the SYP gene, and chromogranin A and chromogranin B encoded respectively by the CHGA and CHGB genes. ...
Psychology of religion
Eugene, OR: Pickwick Publications, 2010. Wulff, D. M. (1997). Psychology of religion: Classic and contemporary (2nd ed.). New ... Frequency of prayer (Report). Pew Research. 2014. Retrieved 20 January 2022. Francis, L. & Evans, T. (2001). "The psychology of ... The data shows a negative correlation between prayer frequency and psychoticism. The data also shows that, in Catholic students ... A study conducted by Francis, Robbins, Lewis, and Barnes investigated the relationship between self-reported prayer frequency ...
Mass shootings in the United States
Garcia, Eugene; Lopez-Mills, Dario (May 24, 2022). "Texas governor: 15 killed in school shooting; gunman dead". Associated ... However, the researchers also used a Poisson regression model to test if the frequency of online media coverage density and ... some researchers dispute whether the frequency of mass shootings are increasing due to differences in research methods and ...
CKLF-like MARVEL transmembrane domain-containing 5
... and to determine if this gene or its products can used clinically as targets for preventing or decreasing the frequency of ... These findings suggest that the CMTM5 gene may act as a tumor suppressor gene, i.e. a normal gene whose product(s) inhibit the ... Gene. 624: 56-65. doi:10.1016/j.gene.2017.04.041. PMID 28457985. Li H, Guo X, Shao L, Plate M, Mo X, Wang Y, Han W (March 2010 ... encoded by six different alternative splices of its gene, CMTM5; CMTM5-v1 is the most studied of these isoforms. The CMTM5 gene ...
Multiple system atrophy
The region in question includes the SHC2 gene which, in mice and rats, appears to have some function in the nervous system. The ... frequency, incomplete bladder emptying, or an inability to pass urine (retention). About 1 in 5 MSA patients experience a fall ... The authors of the U.S. study concluded that "Our results indicate that SHC2 gene deletions underlie few, if any, cases of well ... February 2014). "SHC2 gene copy number in multiple system atrophy (MSA)". Clinical Autonomic Research. 24 (1): 25-30. doi: ...
2015 in aviation
Thorp, Gene, "Saudi Arabia enters Yemen conflict," washingtonpost.com, 26 March 2015. "EASA recommends minimum two crew in the ... covering such issues as which radio frequencies and what languages to use when deconflicting their operations. Tracey Curtis- ...
KTOK
Because AM 1000 is a clear channel frequency reserved for Class A WMVP in Chicago, KNWN in Seattle and XEOY in Mexico City, ... Show hosts: Dink Bernardi Larry Bledsoe Jack Bowen Robert D. "Bob" Coker Carole Arnold Jerry Bohnen Gene Collett Carlton ... Ken Johnson Craig Logsdon Beth Meyers Dan Mahoney Karen McCoy Gene Molter Bill Mondora Reid Mullins Mark Myers Derrick Nance ...
Moon landing
However, a small vial of ashes from the body of pioneer lunar scientist Eugene Shoemaker was delivered by the Lunar Prospector ... detect low frequency electromagnetic waves in space and use a sophisticated integrated propulsion system for maneuvering and ... and ending on 14 December 1972 with Gene Cernan and Jack Schmitt on Apollo 17. Cernan was the last man to step off the lunar ...
WXBT
Gene McKay was joined by station partners Bill Benton and Dave Wright as the morning show became "Good Morning Columbia", a mix ... was moved to WVOC's longtime AM 560 frequency. In November 2012, Jonathon Rush and Kelly Nash of WCOS-FM replaced Keven Cohen, ... It was acquired by Congaree Broadcasters, a group consisting of former WIS veterans Gene McKay, Bill Benton, Dave Wright, and ... WSCQ retained its call letters, but changed the format to Adult Contemporary with Gene McKay hosting mornings (a position he ...
Gonozooid
Higher gonozooid frequencies lead to more sexual reproduction and thus more offspring being genetically different from their ... Sanders, Steven M.; Shcheglovitova, Mariya; Cartwright, Paulyn (2014-05-28). "Differential gene expression between functionally ... In certain animals, stressful environments have been known to lead to an increase in gonozooid frequencies. ...
Sulfolobus
Other genes in the respiratory chain which partake in the production of ATP were not similar to what is found in eukaryotes. ... also showed that UV-irradiation increased the frequency of recombination due to genetic exchange in S. acidocaldarius. Frols et ... These genes include DNA polymerase, primase (including two subunits), MCM, CDC6/ORC1, RPA, RPC, and PCNA. In 2004, the origins ... They are also unique in the sense that the genes encoding the structural proteins of the virus are constantly transcribed and ...
MiR-137
identified a list of 32 genes targeted by miR-137 by cross-referencing the global gene expression analysis of HCT 116 ... miR-137 is embedded within a CpG island, a genomic region containing high frequency of CpG dinucleotides, and is reported to be ... Several target genes of miR-137 have been documented and shown to play important roles in various human cancers, cell cycle ... miR-137 is located on chromosome 1p22 within the non-protein-coding RNA gene AK094607. It is transcribed as a non-coding ...
Uptown, Chicago
"The Delectable Ballad of the Waller Lot" by Chicago poet Eugene Field: Up yonder in Buena Park There is a famous spot, In ... Until 1927, WMAQ radio shared the 670 kilohertz frequency with station WQJ, which was owned by the Rainbo and Calumet Baking ...
Inductrack
Tests have shown that low frequency oscillations (1Hz) occur and a US patent for mechanically damping the track itself (on ... Eugene A., "Transit switching system for monorail vehicles", issued 2002-05-28 US patent 8578860, Post, Richard F., "Inductrack ...
Promoter (genetics)
There are also studies that measured gene expression in synthetic genes or from one to a few genes controlled by bidirectional ... 35 elements have been found to transcribe at lower frequencies than those with a few mismatches with the consensus. The optimal ... Promoters control gene expression in bacteria and eukaryotes. RNA polymerase must attach to DNA near a gene for transcription ... Gene promoters are typically located upstream of the gene and can have regulatory elements several kilobases away from the ...
Islam in India
Gene Diversity in Some Muslim Populations of North India Human Biology - Volume 77, Number 3, June 2005, pp. 343-353 - Wayne ... The very minor increased frequency however, does place these Shias, solely with regards to their haplogroups, closer to Iraqis ... However, some Indian Muslims were found with detectable, traceable, minor to some levels of gene flow from outside, primarily ... "The mostly South Asian origins of Indian Muslims". Gene Expression. Retrieved 6 May 2015. Kashif-ul-Huda (6 May 2007). " ...
Marine mammal
Toothed whales emit a focused beam of high-frequency clicks in the direction that their head is pointing. Sounds are generated ... Zimmer, Carl (9 August 2018). "Marine Mammals Have Lost a Gene That Now They May Desperately Need". The New York Times. ...
Norwegians
Such large frequencies of R1a have been found only in East Europe and India. R1b gene showing paternal descent is also ... Norwegians also show the characteristic R1a genes of the paternal ancestorship at 17.9% to 30.8%. ...
Lutzomyia longipalpis
These pre-mating signaling frequencies resemble a song that the males use to attract and court the females. Several abiotic ... as well as assessments of other mitochondrial genes are all part of mounting evidence supporting the species complex hypothesis ...
Roberts syndrome
In other words, the child must inherit two copies of the defective gene (one from each parent). The ESCO2 gene has a specific ... The frequency of Roberts syndrome carriers is unknown. Roberts Syndrome is named after Dr. John Bingham Roberts (1852-1924) of ... has been labeled as the gene responsible for Roberts syndrome. In fact, ESCO2 is the only known gene that has demonstrated RBS- ... It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately ...
Federal Radio Commission
The number of reserved transmitting frequencies also expanded, and by 1925, the "broadcast band" consisted of the frequencies ... Eugene O. Sykes (Mississippi) served the entire time the FRC existed and was appointed to the FCC in 1934. Henry Adams Bellows ... "split-frequency" operations that fell outside of the standard of transmitting on frequencies evenly divided by 10 kHz. The FRC ... Six frequencies were restricted for exclusive use Canadian stations, leaving 90 available for the slightly fewer than 600 U.S. ...
Genetic studies on Serbs
Its frequency peaks in Ukraine (54.0%). It is the most predominant haplogroup in the general Slavic paternal gene pool. The ... The highest frequency in the central Balkans (Myres et al. 2010). It has its frequency peak in Western Europe (90% in Wales), ... Gene. 498 (1): 59-67. doi:10.1016/j.gene.2012.01.030. PMID 22310393. Scorrano G (2017). "The Genetic Landscape of Serbian ... Moderate frequencies of E-V13 are also found in Italy and western Anatolia. In most of Central Europe (Hungary, Austria, ...
Haplotypes composed of minor frequency single nucleotide polymorphisms of the TNF gene protect from progression into sepsis: A...
Haplotypes containing minor frequency SNP alleles of TNF protect against the development of sepsis without affecting the ... Haplotypes composed of minor frequency single nucleotide polymorphisms of the TNF gene protect from progression into sepsis: A ... Carriage of haplotypes composed of minor frequency alleles was associated with a lower risk of developing sepsis (odds ratio ... Conclusions: Haplotypes containing minor frequency SNP alleles of TNF protect against the development of sepsis without ...
WHO EMRO | Monte Carlo simulation on the effect of different approaches to thalassaemia on gene frequency | Volume 12, issue 1...
Heterozygous frequency varies in parallel with gene frequency. Using the first strategy, homozygous frequency falls over time; ... Therefore, they believe that if we prevent the marriage of 2 gene carriers, frequencies of the thalassaemia gene and ... with a disease gene frequency (fgene) of p, the frequencies of homozygous (fhomo), and heterozygous (fhetero) individuals in ... and prevent marriage between gene carriers. Gene frequency becomes constant with the second or the fourth strategy, and falls ...
Frequency of the Asn-108 and Thr-108 point mutations in the dihydrofolate reductase gene in Plasmodium falciparum from...
We observed variability in the frequency of the mutation between the different geographic location. The frequency of the Asn- ... 108 and Thr-108 mutations in the state of Narifio was 25% each, while in Valle del Cauca the frequencies were 59% and 11%, ... falciparum using a species-specific diagnostic nested PCR base on sequences from the small ribosomal RNA subunit gene. Overall ... gene of Plasmodium falciparum have been correlated with in vitro anti-folate drug resistance of laboratory and field isolates. ...
Dryad Data -- Odd-paired controls frequency doubling in Drosophila segmentation by altering the pair-rule gene regulatory...
Data from: Odd-paired controls frequency doubling in Drosophila segmentation by altering the pair-rule gene regulatory network ... At gastrulation, interactions between the pair-rule genes lead to frequency doubling and the patterning of fourteen parasegment ... By carefully analysing the spatiotemporal dynamics of pair-rule gene expression, we demonstrate that frequency-doubling is ... Odd-paired controls frequency doubling in Drosophila segmentation by altering the pair-rule gene regulatory network, Dryad, ...
Modeling suggests frequency estimates are not informative for predicting the long-term effect of horizontal gene transfer in...
Modeling suggests frequency estimates are not informative for predicting the long-term effect of horizontal gene transfer in ... Horizontal gene transfer (HGT) is an important mechanism by which bacteria recombine and acquire novel genes and functions. ... A key outcome of these studies has been that the frequencies of such inter-domain transfer are very low, if occurring at all, ... 2 Norwegian Institute of Gene Ecology, Science Park, N9294 Tromsø, Norway 3 Department of Aquatic Biosciences, Norwegian ...
Specific Gene Types Driving Higher Frequency of Myeloma Diagnosis in African-Americans Identified By Mayo Clinic Researchers;...
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot - Wellcome Centre for Human...
MDS Pharma, Compendia to Develop Cancer PGx Platform | GenomeWeb
Breast Cancer Risk Gene Candidates Found by Multi-Ancestry Low-Frequency Variant Analysis Researchers narrowed in on new and ... Researchers Go Beyond Gene Variant Analysis With Nascent Pangenome-Based Methods Premium ... Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA ... Arima Genomics to Offer NGS-Based Gene Fusion Test Through Protean BioDiagnostics CLIA Lab ...
IMSEAR at SEARO: Blood group gene frequency in a selected north Indian population.
... predominance of M gene (0.6383) and M s haplotype (0.4464) and S gene frequency below 0.3 (0.2069) agrees with earlier data. ... Gene frequencies have been calculated from 6334 blood donors who were tested at a referral hospital in north India, for ABO & ... Blood group gene frequency in a selected north Indian population. Indian Journal of Medical Research. 1997 Sep; 106(): 242-6. ... for 2 allel systems and the Bernstein method for 3 or more allel systems have been employed for calculating gene frequencies. ...
Host genes that influence transposition in yeast: The abundance of a rare tRNA regulates Ty1 transposition frequency<...
Host genes that influence transposition in yeast: The abundance of a rare tRNA regulates Ty1 transposition frequency. ... Host genes that influence transposition in yeast : The abundance of a rare tRNA regulates Ty1 transposition frequency. / Xu, ... T1 - Host genes that influence transposition in yeast. T2 - The abundance of a rare tRNA regulates Ty1 transposition frequency ... title = "Host genes that influence transposition in yeast: The abundance of a rare tRNA regulates Ty1 transposition frequency", ...
Search
... and prevent marriage between gene carriers. Gene frequency becomes constant with the second or the fourth strategy, and falls ... Thalassaemia genes in Baghdad, Iraq Yahya, H.I. (1996) To estimate the prevalence of thalassaemia genes in Baghdad, a study ... Monte Carlo simulation on the effect of different approaches to thalassaemia on gene frequency Habibzadeh, F.; Yadollahie, M. ... We used computer simulation to determine variation in gene, heterozygous and homozygous frequencies induced by 4 different ...
Impact of the IGFBP3 A-202C polymorphism on susceptibility and clinicopathologic features of breast cancer
Outbreak of Vibrio parahaemolyticus Sequence Type 120, Peru, 2009 - Volume 22, Number 7-July 2016 - Emerging Infectious...
Gene frequency data. J Mol Evol. 1983;19:153-70. DOIPubMedGoogle Scholar ... Ridom SeqSphere+ does a gene-by-gene mapping of the shotgun genomes against the reference genome, identifies the core genes ... In some cases, values are not found in certain loci because that gene was either missing or truncated because of its position ... Among those 4,265 core genes, only 20 were different from the rest. A minimum-spanning tree of these strains showed genetic ...
Results - Corrected gene frequency lists for Pintubi - National Centre for Indigenous Genomics
MCEE gene: MedlinePlus Genetics
Learn about this gene and related health conditions. ... The MCEE gene provides instructions for making an enzyme called ... Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). Hum Mutat. 2007 Oct;28( ... The MCEE gene provides instructions for making an enzyme called methylmalonyl CoA epimerase, which converts one form of the ... At least three mutations in the MCEE gene have been found to cause methylmalonic acidemia, a condition characterized by feeding ...
Frequency-based time-series gene expression recomposition using PRIISM | BMC Systems Biology | Full Text
By identifying the clock frequency range from the core circadian clock genes, we separate the frequency spectrum to different ... In addition, six novel cold-response genes were discovered. PRIISM also provides gene expression data which represents only ... clock-frequency (representing the circadian clock-disruption response) and noise-frequency components. Then, we project the ... The results of this study showed that the ranked treatment-frequency fold change results produce fewer false positives than the ...
A. Hirvonen | Semantic Scholar
Metabolic gene polymorphism frequencies in control populations.. *S. Garte, L. Gaspari, +63 authors. E. Taioli ... Characterisation and PCR‐based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population. *M. ... Association of prostate cancer with vitamin D receptor gene polymorphism.. *J. Taylor, A. Hirvonen, M. Watson, G. Pittman, J. ... the allele and genotype frequencies for many of the more commonly studied metabolic genes in the human population were ...
How to Calculate Changes in Gene and Genotypic Frequencies Caused by Selection, Part 1
p is the gene frequency of the A1 allele and q is the gene frequency of the A2 allele. (Similarly, p and q as used here do not ... In The Effect of Mating Systems on Gene and Genotypic Frequencies: Outbreeding, we saw how the gene frequency q = Q + ½H. ... We now have a formula with which we can calculate the new gene frequency in the next population, given the initial gene ... As there are just two alleles A1 and A2, with the respective gene frequencies p and q , these must add up to one, as p + q = 1 ...
High Frequency of GFP Gene Transient Express ion in Electroporated Zygotes and Early Proembryos of Wheat
Ascending Into a Higher Frequency - Sandra Fazio - Human Design | Gene Keys | Conscious Parenting - Guide | Author | Speaker
Factor VII polymorphisms associated with plasma factor VII coagulant activity levels in healthy Tunisians
Gene Frequency. EN. dc.subject.mesh. Factor VII. EN. dc.title. Factor VII polymorphisms associated with plasma factor VII ... The variant Q allele had a frequency of 0.213 [SD 0.021] whereas the frequency of the 10 bp insert allele was 0.250 [SD ... Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant [FVIIc] levels that have been associated ... The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against ...
Publications at this Location : USDA ARS
MODELING GENE FREQUENCY DYNAMICS (Abstract Only) (12-Dec-95) RACES OF PUCCINIA GRAMINIS IN THE UNITED STATES DURING 1994 (Peer ... EXPRESSION OF GENES ENCODING THAUMATIN-LIKE PROTEINS IS ASSOCIATED WITH RESISTANCE IN OAT AGAINST PUCCINIA GRAMINIS (Abstract ... MAPPING AVIRULENCE GENES IN THE RUST FUNGUS (Abstract Only) (16-Aug-95) ...
Limb-Girdle Muscular Dystrophy Follow-up: Further Outpatient Care, Further Inpatient Care, Complications
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology. 2009 Apr 21. 72(16):1432-5. ... Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol. 2007 Aug. 64 ... Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 ... ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan. 136 (Pt 1):269-81. ...
THE FREQUENCY OF ALLELIC VARIANTS OF THE VITAMIN K-EPOXIDOREDUCTAS E GENE IN PATIENTS WITH ACUTE CORONARY SYNDROME
THE FREQUENCY OF ALLELIC VARIANTS OF THE VITAMIN K-EPOXIDOREDUCTAS E GENE IN PATIENTS WITH ACUTE CORONARY SYNDROME ... THE FREQUENCY OF ALLELIC VARIANTS OF THE VITAMIN K-EPOXIDOREDUCTAS E GENE IN PATIENTS WITH ACUTE CORONARY SYNDROME. Journal: ... THE FREQUENCY OF METHYLENETETRAHYDROFOLATEREDUCTAS E GENE C677T SINGLE NUCLEOTIDE POLYMORPHIS M IN INDIVIDUALS OF DIFFERENT SEX ... T2255C polymorphism (rs2359612) of vitamin K-epoxidoreductase (VKORC1) gene in 118 patients with acute coronary syndrome (ACS) ...
Origin, Spread and Demography of the Mycobacterium tuberculosis Complex | PLOS Pathogens
Gene frequency data. J Mol Evol 19: 153-170. * View Article * Google Scholar ... The MTBC is essentially clonal with little evidence of horizontal gene exchange [3],[4],[5], and probably derived from a pool ... Therefore, the relative frequencies of single-locus variations among closely related isolates in a global MTBC isolate dataset ... Bubble-graph representation of allele frequencies for the different MIRU loci. Allele size (number of repeats) on the y-axis, ...
Determining the frequency of de novo germline mutations in DNA mismatch repair genes - Fingerprint - Mayo Clinic
SELECTION AND THE SINGLE GENE
the CHANGE OF GENE FREQUENCY, (obtained by subtracting old gene frequency from the new gene frequency).. This doesnt look like ... What is the new gene frequency, p ? p = new frequency of AA + 0.5 x new frequency of Aa ... 1) Estimate from change of gene frequencies per generation ; the result of selection. Example: peppered moth melanic frequency ... evolution is change in gene frequencies between generations. WHAT CAUSES EVOLUTION? a) Natural selection b) Mutation c) Genetic ...
Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in...
A polymorphism at codon 54 in exon 2 of the FABP2 gene exchanges an Alanine (Ala), in the small helical region of the protein, ... Allele frequencies were calculated by direct counting. Hardy Weinberg Equilibrium was evaluated using a Chi-square goodness of ... This is the first study to look at the population frequency of the Thr54 allele in Argentina. The obtained result does not ... Our results reveal a similar population polymorphism frequency as in previous European studies, with q = 0.277 (95% confidence ...
AlleleMutationsAllelesPopulationsVariant of the type-3 secretionPolymorphismPolymorphismsSusceptibilityEpigenetic regulator genesAntimicrobial resistance genesVariantsProteinsVirulence genesChromosomeCharacterizePopulationHumansResistanceGenotypeCommonlyABSTRACTFrequentVariationAutosomalFunctionallyFoundRegulationDeletionAssaysClinicalExpressionSingle-geneSubunitPrevalenceDetectionIsolatesHighGenotypicThalassaemiaGenomicsBacterialBRCA2VariesProteinPromoter regionExposureHigher FrequencyTumorStrainsLinkageBacteriaBiologicalInstructions for making anPeripheralHomozygousHaplotypesPatientsHumanReceptorCancerFindingsGenerationsPotentiallyLoci
Allele9
- Using the International Project on Genetic Susceptibility to Environmental Carcinogens (GSEC) database containing information on over 15,000 control (noncancer) subjects, the allele and genotype frequencies for many of the more commonly studied metabolic genes in the human population were determined. (semanticscholar.org)
- p is the gene frequency of the A 1 allele and q is the gene frequency of the A 2 allele. (doctordung.com)
- 05. The presence of the risk allele of the CYP1A1*2A polymorphism and the deletion in the GSTM1 gene are high, which could be indicative of a phase I and II metabolic imbalance in this group of Peruvian populations, with potential risks of activating agents procarcinogens thus affecting the incidence of tumor pathologies with an environmental component. (edu.pe)
- Furthermore, in Lacandons we observed a high frequency of haplotypes containing the allele HLA-DRB1*04:11, a relatively frequent allele in comparison with other neighboring indigenous groups. (nature.com)
- The current study estimates the total number of ZZ, SZ and MZ individuals in each European country, and goes beyond earlier publications by others 7 - 10 , in which only the allele frequencies for PI*M, PI*S and PI*Z were reported for individual cohorts in individual cities or geographical regions. (ersjournals.com)
- The present study utilises available data from epidemiological studies performed by others to determine the frequencies of deficiency allele combinations for PI*S and PI*Z, in the healthy control cohorts of individual case studies from European countries. (ersjournals.com)
- Concurrent changes in allele frequencies and erosion of nucleotide diversity suggest that this recovery occurred via adaptation back to ancestral conditions. (digitalmarylandnews.com)
- A new case-control gene region association test using allele frequencies from public controls. (bvsalud.org)
- Migration into or out of a population may be responsible for a marked change in allele frequencies (the number of individual members carrying a particular variant of a gene). (citizendium.org)
Mutations34
- Frequency of the Asn-108 and Thr-108 point mutations in the dihydrofolate reductase gene in Plasmodium falciparum from southwest Colombia. (ajtmh.org)
- Several point mutations in the dihydrofolate reductase (DHFR) gene of Plasmodium falciparum have been correlated with in vitro anti-folate drug resistance of laboratory and field isolates. (ajtmh.org)
- The frequency of the Asn-108 and Thr-108 mutations in the state of Narifio was 25% each, while in Valle del Cauca the frequencies were 59% and 11%, respectively. (ajtmh.org)
- With the exception of the extremely rare mutations, only those individuals born to 2 gene carriers (heterozygotes or homozygotes) may develop thalassaemia major. (who.int)
- 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)
- Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. (medscape.com)
- Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. (medscape.com)
- This study aimed to determine the frequencies of C18R,D76N, and R197H mutations in the coding region of the IPF-1gene in a cohort of Sudanese patients with type 2 DM. (jabonline.in)
- OBJECTIVE: To classify familial amyotrophic lateral sclerosis (FALS) on the base of family history, and to determine whether frequency of mutations in major amyotrophic lateral sclerosis (ALS) genes varies in different FALS categories. (unicatt.it)
- CONCLUSIONS: Our findings provide evidence that frequency of mutations in currently known ALS genes varies widely among different FALS categories. (unicatt.it)
- The best genes for this purpose are so-called neutral genes: those that are not subject to strong selective pressures that will stop random mutations from accumulating them. (economist.com)
- Mutations in this gene may have adverse consequences for a person's health but, rather like the mutation of the haemoglobin gene that causes sickle-cell anaemia, they can also protect that individual against malaria. (economist.com)
- Again like the sickle-cell gene, some G6PD mutations have spread in parts of the world in which malaria is endemic. (economist.com)
- In 2011, the genome of an exceptional bladder cancer patient whose tumor had been eliminated by the drug everolimus was sequenced, revealing mutations in two genes, TSC1 and NF2 . (wikipedia.org)
- Learn about gene changes called mutations, how inherited mutations can lead to cancer, what types of cancer may be hereditary and how parents can pass gene mutations to their children. (facingourrisk.org)
- Read about different genes that are linked to hereditary cancer and the risks associated with inherited mutations in these genes. (facingourrisk.org)
- In patients with persistent hematuria, testing for COL4A3 and COL4A4 mutations to diagnose TBMN is problematic because of the huge size of these genes, their frequent polymorphisms, and the likelihood of a further gene locus. (austin.org.au)
- Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis. (cdc.gov)
- Frequency of the HFE gene mutations in five Italian populations. (cdc.gov)
- Prevalence and clinical implications of HFE gene mutations (C282Y and H63D) in patients with chronic hepatitis B and C in Taiwan. (cdc.gov)
- Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis. (cdc.gov)
- Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in European populations: a meta-analysis. (cdc.gov)
- Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population. (cdc.gov)
- Iron overload and HFE gene mutations in Polish patients with liver cirrhosis. (cdc.gov)
- All mutations are rare events, but mutation frequencies vary from organism to organism and from gene to gene within a given organism. (thelib.info)
- Subsequent mutations in one of the two copies of the gene might not have an adverse effect on sur- vival because the other copy of the gene would continue to produce functional protein. (thelib.info)
- Homocystinuria due to MTHFR deficiency caused by compound heterozygous mutations composed of the MTHFR gene in this family may be associated with cerebral atrophy and cerebral dysplasia. (biomedcentral.com)
- The novel compound heterozygous mutations broaden the mutation spectrum of the MTHFR gene and enhance the application of genetic counseling and carrier screening in rare diseases. (biomedcentral.com)
- Type V pityriasis rubra pilaris has been linked to mutations in the gene, CARD . (medscape.com)
- data are preliminary and based on broth microdilution susceptibility testing and/or presence of resistance genes and mutations found in whole genome sequences of bacterial DNA. (cdc.gov)
Alleles8
- Carriage of haplotypes composed of minor frequency alleles was associated with a lower risk of developing sepsis (odds ratio 0.41, 95% confidence interval 0.19-0.88, p=0.022), but this did not affect the 28-day outcome. (nih.gov)
- Haplotypes containing minor frequency SNP alleles of TNF protect against the development of sepsis without affecting the outcome. (nih.gov)
- As there are just two alleles A 1 and A 2 , with the respective gene frequencies p and q , these must add up to one, as p + q = 1. (doctordung.com)
- The specific demographic history of the Lacandon population including inbreeding, as well as pathogen selection, may have elevated the frequencies of a small number of HLA class II alleles and DNA blocks. (nature.com)
- The AT gene is highly pleomorphic, with ∼100 alleles having been identified to date. (ersjournals.com)
- The frequency and expression of homoeologous gene alleles showing strong expression dosage bias are predictive of variation in yield-related traits, and have likely been impacted by breeding for increased productivity. (cgiar.org)
- Private alleles and significant differences in gene frequencies were found among the populations studied, which demonstrated the extent of genetic differentiation among the spectacled bear populations. (cgrb.org)
- Gene flow (also known as gene migration ) is the transfer of alleles of genes from one population to another. (citizendium.org)
Populations11
- Our simulations show that transformant populations under a wide range of HGT rates and selection coefficients undergo stochastic developments where they persist at low frequencies for up to several years (at frequencies that are below detection using available field sampling methodology), after which they eventually may go to fixation. (ebr-journal.org)
- Metabolic gene polymorphism frequencies in control populations. (semanticscholar.org)
- The Thr54 frequency found in the Argentine populations was q = 0.277. (biomedcentral.com)
- When Dr Volkman looked at nine neutral genes, she found little variation across widely separated parasite populations, suggesting the common ancestors of those genes were recent. (economist.com)
- Her DNA carried the haplotype highly similar to the Endothelial Pas1 ( EPAS1 ) gene, which in living populations is known to improve oxygen transport in the blood. (ucdavis.edu)
- The list of populations is sorted by frequency in descending order. (allelefrequencies.net)
- These genotypes only differ in one gene which is denoted by an X . The list is sorted by the number of populations in descending order. (allelefrequencies.net)
- So then, we'll have to talk about the mathematical modeling frameworks that can be used to study the spread of these gene drive systems through spatially-structured mosquito populations. (hstalks.com)
- There are a number of factors that affect the rate of gene flow between different populations. (citizendium.org)
- Behavioral differences in geographically isolated populations can prevent gene flow and lead to speciation . (citizendium.org)
- By measuring the frequencies, the rate of gene flow between the two populations can be measured, showing that gene flow is greater in the Northern U.S. than in the South. (citizendium.org)
Variant of the type-3 secretion2
- 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)
Polymorphism4
- Association of prostate cancer with vitamin D receptor gene polymorphism. (semanticscholar.org)
- Association between manganese superoxide dismutase (MnSOD) gene polymorphism and breast cancer risk. (semanticscholar.org)
- T2255C polymorphism (rs2359612) of vitamin K-epoxidoreductase (VKORC1) gene in 118 patients with acute coronary syndrome (ACS) and in 234 healthy people was determined. (researchbib.com)
- fl agellin gene polymorphism. (cdc.gov)
Polymorphisms4
- Several articles have provided conflicting results regarding the role of single nucleotide polymorphisms (SNPs) in the promoter region of the TNF gene in susceptibility to sepsis. (nih.gov)
- Point-mutational MspI and Ile-Val polymorphisms closely linked in the CYP1A1 gene: lack of association with susceptibility to lung cancer in a Finnish study population. (semanticscholar.org)
- The hypothesis that vitamin D receptor gene polymorphisms are associated with prostate cancer risk is tested using a case-control study of men undergoing radical prostatectomy and male urology clinic controls with no history of cancer and suggests strategies for chemoprevention of this common cancer. (semanticscholar.org)
- Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant [FVIIc] levels that have been associated with cardiovascular risk. (who.int)
Susceptibility2
- This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene. (healthpartners.com)
- [1] The well-known cancer susceptibility genes BRCA1 and BRCA2 are also examples of FA genes (FANCS and FANCD1 respectively), and biallelic mutation of any of the two genes usually results in an embryonically lethal outcome, and should the proband come to term, experience a severe form of Fanconi anemia. (wikipedia.org)
Epigenetic regulator genes4
- One of the most remarkable findings of the international high-resolution cancer genome sequencing efforts, spearheaded by the Cancer Genome Atlas, is the high frequency of genetic alterations in the genes encoding proteins that directly regulate the epigenome - referred to here as epigenetic regulator genes (ERGs) - in common human cancer types. (who.int)
- The main goal of EpiDRIVERS, a project of the Epigenomics and Mechanisms Branch (EGM), is to investigate whether epigenetic regulator genes (ERGs), when disrupted through genetic or non-mutational mechanisms, act as drivers ("epidrivers") in cancer development and confer a cancer cell phenotype (through potential synergy with environmental exposure). (who.int)
- A five-stage approach is adopted to identify and assess epigenetic regulator genes (ERGs) with driver potential: (1) comprehensive literature mining, (2) in silico data curation in clinical samples, (3) modelling the driver potential of candidate genes, (4) using the CRISPR/Cas9 and CRISPR/dCas9 systems for orthogonal in vitro assessment of driver potential, and (5) characterizing the synergy between epidrivers and environmental exposures. (who.int)
- A compendium of epigenetic regulator genes (ERGs) included in the study. (who.int)
Antimicrobial resistance genes3
- 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)
- 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)
- XDR Shigella strains can spread antimicrobial resistance genes to other enteric bacteria. (cdc.gov)
Variants5
- Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA sequences may miss drug response clues found in the germline. (genomeweb.com)
- Dr Tishkoff and her colleagues studied the frequency of variants in the human G6PD (glucose-6-phosphate-dehydrogenase) gene, which confers resistance to malaria. (economist.com)
- To determine the likely pathogenic gene variants in the family pedigree, we performed whole-exome sequencing in this study. (biomedcentral.com)
- C (p.Leu439Pro) of the MTHFR gene may be new genetic variants associated with homocystinuria due to MTHFR deficiency. (biomedcentral.com)
- These DNA primer pairs were designed by prioritizing the gene regions most commonly found in transcript variants. (bio-rad.com)
Proteins1
- Immunoblot analyses of Ty1-encoded proteins indicate an inverse correlation between the copy number of the tRNA gene and the production of the TYB protein. (nyu.edu)
Virulence genes2
Chromosome5
- The MCEE gene is found on chromosome 2 . (medlineplus.gov)
- FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (wikipedia.org)
- Current literatures report a defect in the Son of sevenless-1 gene (SOS-1) on chromosome 2p21-p22 (HGF1) as a possible cause of this condition. (bvsalud.org)
- Each chromosome has a set of genes. (nsmalondon.com)
- Chromosome and gene. (nsmalondon.com)
Characterize1
- 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)
Population18
- No matter which strategy is used, the population gene frequency, in the worst case, will remain constant over time. (who.int)
- Some health care professionals, however, worry that this approach might result in accumulation of the disease gene, which is normally removed from the population through the death of homozygous patients. (who.int)
- Here we present a stochastic model to better understand the initial establishment and population dynamics of rare bacterial transformants carrying horizontally acquired (trans)genes. (ebr-journal.org)
- IMSEAR at SEARO: Blood group gene frequency in a selected north Indian population. (who.int)
- If there are three genotypes in a population, the proportion of each as a percentage (its frequency) must add up to 100%, or 1. (doctordung.com)
- Assume these frequencies occur in a population from which parents have not yet been selected to produce the next generation. (doctordung.com)
- We now have a formula with which we can calculate the new gene frequency in the next population, given the initial gene frequency, the degree of dominance (if any), and the difference in fitness values (if any) of the various genotypes. (doctordung.com)
- Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. (medscape.com)
- The R197H gene variant was not detected in the study population. (jabonline.in)
- In general, the more variation there is in a gene in a population, the longer it is since that population's individuals shared an ancestor. (economist.com)
- The carrier frequency in the Ashkenazi Jewish population is about one in 90. (wikipedia.org)
- Gene drive: what is possible at the population level with currently-available molecular components? (hstalks.com)
- But the result of that is that it actually places a selective advantage on having the Medea construct and a disadvantage on not having it, and therefore, over time, the Medea elements spreads into the population and is capable of spreading to the population from very low initial frequencies. (hstalks.com)
- Le risque peut être considérable en raison de leurs courtes périodes de virémie asymptomatique dans la population dont l'incidence est variable et parfois extrêmement élevée. (bvsalud.org)
- In Congo, more than 25% of the population - about 1.4 million people - carries the gene for sickle cell. (who.int)
- Immigration may result in the addition of new genetic material to the established gene pool of a particular species or population, and conversely emigration may result in the removal of genetic material. (citizendium.org)
- Gene flow has been observed in humans , for example in the United States of America , where a white European population and a black West African population were recently brought together. (citizendium.org)
- Models of gene flow can be derived from population genetics , e.g. (citizendium.org)
Humans2
- Humans, for example, have 20 times more genes than prokaryotes have. (thelib.info)
- In pathogenic microorganisms, particularly when rates of horizontal gene transfer are high due to processes such as DNA transformation that occurs with some organisms inhabiting the upper respiratory tract of humans, evolutionary lineages can still be analysed by considering DNA sequence change that occurs in several genes. (citizendium.org)
Resistance4
- Frequency of Plasmid-Mediated Quinolone Resistance Genes qnrA , qnrB , and qnrS among Clinical Isolates of Klebsiella pneumoniae ', Journal of Applied Biotechnology Reports , 7(4), pp. 203-207. (biotechrep.ir)
- Chuaiphichai et al (2017) demonstrated for the first time that selective deficiency in endothelial cell BH4 biosynthesis, via targeted deletion of gene GCHL , is enough to cause eNOS uncoupling, which leads to impaired vascular function in resistance arteries, even without vascular disease. (medscape.com)
- In addition, long-read sequencing of one representative XDR ST235 isolate identified an integron carrying multiple resistance genes (including bla VIM-2), with differences in gene composition and synteny from the P. aeruginosa class 1 integrons described previously. (who.int)
- Cefoxitin (30g) was used as surrogate to determine phenotypic methicillin resistance in staphylococcus isolates, and the methicillin resistance ( mec A) gene was detected by conventional PCR assay. (who.int)
Genotype4
- P is the genotypic frequency of the A 1 A 1 genotype. (doctordung.com)
- H is the genotypic frequency of the A 1 A 2 genotype. (doctordung.com)
- Q is the genotypic frequency of the A 2 A 2 genotype. (doctordung.com)
- Penetrance of the C28Y/C282Y genotype of the HFE gene. (cdc.gov)
Commonly3
- The qnrB (43% isolates) was the most commonly detected gene, followed by qnrS (34% isolates) and qnr A (23 % isolates) either alone or in combination with other genes. (biotechrep.ir)
- HGF is more commonly associated with an autosomal dominant gene 4 . (bvsalud.org)
- To streamline reference gene selection, we offer PCR primers for a set of commonly used reference genes that can be used individually, easily screened using our preplated 96-well and 384-well reference panels or added to custom-designed plates. (bio-rad.com)
ABSTRACT1
- ABSTRACT We used computer simulation to determine variation in gene, heterozygous and homozygous frequencies induced by 4 different approaches to thalassaemia. (who.int)
Frequent4
- We previously reported that KRG induces gross deletions in the nef gene [ 14 ] and frequent genetic defects in the 5′ LTR/ gag gene [ 15 ]. (hindawi.com)
- Their clinical characteristics, including changes in CD4+ T-cell count and RNA copy number, KRG therapy, and frequent genetic defects in the nef and 5′ LTR/ gag genes, have been previously described [ 14 , 15 ]. (hindawi.com)
- The best genes become more frequent in the gene pool. (latimes.com)
- 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)
Variation10
- Such variation can therefore act as a "molecular clock", from which the age of the common ancestral gene can be deduced. (economist.com)
- But previous studies of genetic variation in P. falciparum have concentrated on those genes that help the parasite to evade the human immune system, or protect it from insecticides. (economist.com)
- C variant of the MTHFR gene is a novel missense variant that has been submitted to the ClinVar with Variation ID 992,662. (biomedcentral.com)
- Background Differential Shannon entropy (DSE) and differential coefficient of variation (DCV) are effective metrics for the study of gene expression data. (nsmalondon.com)
- Gene set variation analysis (GSVA) (Version 1.35.6) assesses the variation of gene set using the Kolmogorov-Smirnov (K-S) like random walk statistic. (nsmalondon.com)
- By designing and applying a pipeline to identify pathogenic genetic variation within enhancer elements responsible for regulating gene expression, we identify disease-associated variation within CAV1/CAV2 enhancers, which replicate in an independent cohort. (nsmalondon.com)
- For example, in the context of a gene expression matrix across different patient samples, this might mean getting a set of new variables that cover the variation in sets of genes. (nsmalondon.com)
- Gene set variation analysis (GSVA) R package was used to estimate the signaling pathways based on transcriptome sequencing data of each sample. (nsmalondon.com)
- Significant brain tissue gene expression and drug set enrichment was observed, along with shared genetic variation of SA with ADHD, smoking, and risk tolerance after conditioning on both major depressive disorder and post-traumatic stress disorder. (nsmalondon.com)
- Reference genes are used in relative gene expression analysis to normalize for variation in the amount of input messenger RNA (mRNA) among samples. (bio-rad.com)
Autosomal1
- It is the commonest single-gene, autosomal, hereditary disease [1]. (who.int)
Functionally2
- Allopolyploidy greatly expands the range of possible regulatory interactions among functionally redundant homoeologous genes. (cgiar.org)
- To this end, EGM developed and tested a conceptual framework (involving a pan-cancer in silico genomic and experimental strategy) to identify and orthogonally validate functionally important epidriver genes through a novel systematic approach that uses the strengths of state-of-the-art genome-editing screens (Figure 1). (who.int)
Found7
- 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, we found that HAART increases the frequency of premature stop codons (PSCs) in the vif gene. (hindawi.com)
- We found parallel adaptation to global change conditions in genes related to stress response, gene expression regulation, actin regulation, developmental processes, and energy production. (digitalmarylandnews.com)
- A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. (cdc.gov)
- The city contracts with our services were flown to make your discharge will be found in eugene city or. (herdyyumul.com)
- C (p.Leu439Pro) of the MTHFR gene in the first three fetuses were found by whole-exome sequencing. (biomedcentral.com)
- 1 Eight Asian countries reported frequencies found that 37% of the carbapenem prescriptions were of isolation of Pseudomonas spp. (who.int)
Regulation3
- Insulin promoter factor-1 (IPF-1) gene plays a central role in the development of the pancreas and regulation of insulin gene expression in β cells. (jabonline.in)
- I am interested in understanding molecular mechanisms responsible for regulation of gene expression at the level of chromatin remodeling and modification. (researchgate.net)
- Considering rapid changes in environmental conditions, adaptive plasticity enables organisms to maintain fitness across environments 11 through underlying phenotypic changes, such as shifts in metabolism or gene regulation 12 . (digitalmarylandnews.com)
Deletion1
- However, there are only a few studies that have reported the gross deletion of the vif gene because it is the second most highly conserved gene after pol [ 17 - 19 ]. (hindawi.com)
Assays4
- Vinyl acetate was negative in bacterial gene mutation assays using Salmonella typhimurium TA98, TA100, TA1535 and TA1537, with and without rat liver S-9 activation. (europa.eu)
- Vinyl acetate was shown to be negative in bacterial gene mutation assays using Salmonella typhimurium TA98, TA100, TA1535 and TA1537, with and without rat liver S-9 activation. (europa.eu)
- Use the PrimePCR lookup tool to find assays and panels for your genes of interest. (bio-rad.com)
- Bio-Rad collaborated with Biogazelle, leaders in real-time PCR research, to design and experimentally validate PCR primers for gene expression assays across the human and mouse transcriptomes. (bio-rad.com)
Clinical2
- The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers and new targets for cancer therapies. (wikipedia.org)
- Our single gene tests are sectioned from our high-quality, clinical grade NGS assay. (blueprintgenetics.com)
Expression19
- The Drosophila embryo transiently exhibits a double segment periodicity, defined by the expression of seven "pair-rule" genes, each in a pattern of seven stripes. (datadryad.org)
- By carefully analysing the spatiotemporal dynamics of pair-rule gene expression, we demonstrate that frequency-doubling is precipitated by multiple coordinated changes to the network of regulatory interactions between the pair-rule genes. (datadryad.org)
- Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (medlineplus.gov)
- The fold change patterns ( A ), warm gene expression patterns ( B ) and cold gene expression patterns ( C ) for the original and PRIISM-processed data for AtgolS3 ( AT1G09350 ), the most highly upregulated gene in response to cold at 26 hours in the treatment-frequency data. (biomedcentral.com)
- Here, by analyzing the actin-related protein6 mutant, which is impaired in H2A.Z deposition, and by H2A.Z profiling in stress conditions, we investigated the impact of this histone variant on gene expression in Arabidopsis thaliana. (researchgate.net)
- Recombination is important for the assembly and expression of genes, the generation of genetic diversity and the repair of DNA damage. (uoguelph.ca)
- Fulvestant as an anti-steroid agent, modifies growth-related gene expression of ovarian cells via selective estrogen receptor down regulator (SERD) effects. (icbcongress.com)
- Although the composition of oral biofilms is well established, the active portion of the bacterial community and the patterns of gene expression in vivo have not been studied. (biomedcentral.com)
- We could identify some gene expression patterns characteristic for early and mature oral biofilms. (biomedcentral.com)
- The transcriptomic profile of several adhesion genes was confirmed through qPCR by measuring expression of fimbriae-associated genes. (biomedcentral.com)
- Compared with glucose-limited condition, under Pi-limited aerobic condition, the budding yeast S. cerevisiae up-regulated 292 genes and activated a regulatory mechanism known as the PHO pathway, leading to an increased expression of multiple genes involved in Pi acquisition and uptake [ 16 ]. (biomedcentral.com)
- To overcome the extensive technical noise in the expression of any single gene for scRNA-seq data, Seurat assigns cells to clusters based on their PCA scores derived from the expression of the integrated most variable genes, with each PC essentially representing a 'metagene' that combines information across a correlated gene set. (nsmalondon.com)
- In this workshop, you will be learning how to analyse RNA-seq count data, using R. This will include reading the data into R, quality control and performing differential expression analysis and gene set testing, with a focus on the limma-voom analysis workflow. (nsmalondon.com)
- Cluster Analysis Identi cation of genes with similar expression pro les across many samples. (nsmalondon.com)
- Conceptually, GSVA transforms a p-gene by n-sample gene expression matrix into a g-geneset by n-sample pathway enrichment matrix. (nsmalondon.com)
- The tutorial also serves as a small introduction to clustering procedures in R. We use simulated gene expression data to evaluate different module detection methods and gene screening approaches. (nsmalondon.com)
- The selected pathways were used to design panels of real-time PCR primers tailored for the top-ranked genes for differential gene expression analysis. (bio-rad.com)
- Each gene target within a pathway was assigned a score based on the frequency of differential expression and its research significance. (bio-rad.com)
- To ensure accurate quantitation, it is important to include one or more reference genes exhibiting constant expression levels under the experimental conditions. (bio-rad.com)
Single-gene1
- The normal TAT for all single gene tests is 3-4 weeks. (blueprintgenetics.com)
Subunit1
- Of these 10 samples, three were identified as P. falciparum using a species-specific diagnostic nested PCR base on sequences from the small ribosomal RNA subunit gene. (ajtmh.org)
Prevalence2
- To estimate the prevalence of thalassaemia genes in Baghdad, a study was made of 502 randomly selected pregnant women attending a major maternity care clinic in the city. (who.int)
- This study describes the high prevalence of the qnrB , qnr S, and qnr A genes among K. pneumoniae isolates in Iran. (biotechrep.ir)
Detection1
- The detection of qnr genes accentuate the need for organizing tactful policies associated with infection control measures in hospital settings in Iran. (biotechrep.ir)
Isolates3
- The purpose of this study was to detect qnr -encoding genes and to evaluate the clonal relatedness of qnr -positive Klebsiella pneumoniae isolates. (biotechrep.ir)
- The results also showed that another 8% of the isolates had unusual virulence gene combinations that would be missed by conventional screening. (canada.ca)
- Four of the 9 (44.4%) CoNS isolates were cefoxitin resistant and all the 4 (100%) carried mec A gene. (who.int)
High8
- Genetic screening of a yeast genomic library in a high-copy-number vector identified the normally single-copy tRNA CCU Arg gene as one of the genes that reduces Ty1 transposition frequency when overexpressed. (nyu.edu)
- RNA-editing frequency is very high among octopus and squid: Do they differ from other Classes of animals? (genewhisperer.com)
- In conclusion, our current data suggest that the high frequency of deletions and PSC in the vif gene is associated with KRG intake and HAART, respectively. (hindawi.com)
- Most modern Tibetans carry a high frequency of the EPAS1 gene. (ucdavis.edu)
- This quasi-periodicity can occur through cells with similar frequency-current (f-I) curves receiving a similar, high amount of uncorrelated synaptic noise. (nebraska.edu)
- We propose that this mechanism may explain why so many disparate epileptic and normal brain mechanisms can produce similar high frequency oscillations. (nebraska.edu)
- Interact with our easy car parks provide at eugene south of eugene high ceilings in eugene, it is always free shuttle provides this eugene oregon is the individual store your left. (herdyyumul.com)
- Consistent with this notion, one of the most remarkable findings of the international high-resolution cancer genome sequencing efforts is the high frequency of genetic alterations in ERGs (Figure 2) in common human cancer types. (who.int)
Genotypic2
- From this, their progeny become the next parents, with genotypic frequencies of P 1 , H 1 and Q 1 . (doctordung.com)
- In The Effect of Mating Systems on Gene and Genotypic Frequencies: Outbreeding , we saw how the gene frequency q = Q + ½ H . (doctordung.com)
Thalassaemia3
- These include treatment of affected children by bone marrow transplantation, prenatal diagnosis of the disease and termination of affected pregnancies, and eliminating the chance of a child with thalassaemia major being born at all, i.e. to prevent marriage between 2 gene carriers. (who.int)
- Therefore, they believe that if we prevent the marriage of 2 gene carriers, frequencies of the thalassaemia gene and individuals heterozygous for the gene might increase over time, and ultimately rise to a level where most people are gene carriers. (who.int)
- They believe that unless gene therapy is available for treatment of thalassaemia in the near future, preventing the marriage of 2 gene carriers is, in fact, merely postponing our current problem to the future, and might even worsen the situation in the long term. (who.int)
Genomics1
- Oncogenomics is a sub-field of genomics that characterizes cancer -associated genes . (wikipedia.org)
Bacterial2
- All under-five children with suspected meningitis over the 10-years period were included and descriptive statistics like frequency, percentage, mean, median and standard deviations were used for the characteristics of under-five Children with Suspected Bacterial Meningitis. (bvsalud.org)
- In this study, we determined the bacterial diversity profile of the Mexico City metro by massive sequencing of the 16S rRNA gene. (nature.com)
BRCA21
- the genetic control of recombination (investigation of the role of the Rad52 epistasis group of genes, and the Breast Cancer 2 tumor suppressor gene, BRCA2). (uoguelph.ca)
Varies2
- Heterozygous frequency varies in parallel with gene frequency. (who.int)
- Despite these critical functions, crossover frequency varies extensively within and between species. (researchgate.net)
Protein3
- Caco2 cell culture and animal experiment confirmed IMZ affected carnitine absorption through the organic cation transporter type-2 (OCTN2) protein encoded by solute carrier family 22A member 5 (SLC22A5) gene in colon. (bvsalud.org)
- The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. (lovd.nl)
- Caused by mutation in the gene encoding retinaldehyde-binding protein-1. (cdc.gov)
Promoter region1
- [2] [3] One major source of epigenetic change is altered methylation of CpG islands at the promoter region of genes (see DNA methylation in cancer ). (wikipedia.org)
Exposure1
- 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)
Higher Frequency1
- FA occurs in about one per 130,000 live births, with a higher frequency in Ashkenazi Jews and Afrikaners in South Africa. (wikipedia.org)
Tumor2
- Two were already thought to contribute to tumor progression: an internal tandem duplication of the FLT3 receptor tyrosine kinase gene, which activates kinase signaling and is associated with a poor prognosis and a four base insertion in exon 12 of the NPM1 gene (NPMc). (wikipedia.org)
- Secondary neoplasm refers to any of a class of cancerous tumor that is either a metastatic offshoot of a primary tumor, or an apparently unrelated tumor that increases in frequency following certain cancer treatments such as chemotherapy or radiotherapy . (wikipedia.org)
Strains1
- 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)
Linkage1
- This process causes genomes to undergo structural alterations leading to changes in the linkage relationship between genes or groups of genes. (uoguelph.ca)
Bacteria2
- Horizontal gene transfer (HGT) is an important mechanism by which bacteria recombine and acquire novel genes and functions. (ebr-journal.org)
- The relationship between transfer frequencies and the subsequent selection or genetic drift of transgene carrying bacteria often remains unresolved in these studies and assessments. (ebr-journal.org)
Biological1
- In addition, researchers may invent new terms for biological concepts (for example, 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)
Instructions for making an1
- The MCEE gene provides instructions for making an enzyme called methylmalonyl CoA epimerase, which converts one form of the molecule methylmalonyl CoA to another. (medlineplus.gov)
Peripheral2
- However, the frequency-dependent effects of vibration on injury to the peripheral nervous system have not been examined. (cdc.gov)
- Hence, to determine if KRG affects the vif gene, as shown for the nef and gag genes [ 14 - 16 ], we amplified vif gene in peripheral blood mononuclear cells (PBMCs) obtained over 20 years from 10 long-term slowly progressing (LTSP) patients. (hindawi.com)
Homozygous1
- 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)
Haplotypes1
- Here, we propose a comparison between a multi-locus barcoding approach based on six chloroplast markers and a single-copy nuclear gene sequencing method using five coding regions combined with a character-based system with the aim of reconstructing cultivar-specific haplotypes and genotypes to be exploited for the molecular characterization of 157 V. vinifera accessions. (biomedcentral.com)
Patients1
- To investigate if Korean red ginseng (KRG) affects vif gene, we determined vif gene over 20 years in 10 long-term slowly progressing patients (LTSP) who were treated with KRG alone and then KRG plus HAART. (hindawi.com)
Human9
- The human major histocompatibility complex (MHC) is located within chromosomal region 6p21.3 and spans at least 3.4 Mb of DNA containing more than 400 genes. (nature.com)
- Human leukocyte antigen (HLA) loci are mapped within the MHC region as well as other immune related genes and pseudogenes 1 . (nature.com)
- Potentially, gene targeting is an effective form of human gene therapy. (uoguelph.ca)
- 2013), a human cell gene mutation assay in the TK locus (Budinsky et al. (europa.eu)
- A human cell gene mutation assay in the HPRT locus is also available, although experimental methodology is limited (Budinsky et al. (europa.eu)
- Global conditions are changing at a geologically unprecedented rate, and the frequency of extreme events is increasing due to human activities resulting in chronic and novel environmental changes 1 . (digitalmarylandnews.com)
- One of which is MGDrivE, which stands for Mosquito Gene Drive Explorer and another is MASH or Modular Analysis and Simulation for human Health. (hstalks.com)
- These findings have sparked debate on these genes potentially acting as "drivers" of tumorigenesis and on the mechanisms fuelling epigenome changes that are rampant in human malignancies. (who.int)
- complexity of the human diet, by the The frequency of overweight and interaction of chemical compounds that obese adult women in the 27 Brazilian may be antagonistic, compete or alter the State Capitals was 53.9% and 20.7%, bioavailability of nutrients6. (bvsalud.org)
Receptor2
- For lymphoid neoplasms, e.g. lymphoma and leukemia , clonality is proven by the amplification of a single rearrangement of their immunoglobulin gene (for B cell lesions) or T cell receptor gene (for T cell lesions). (wikipedia.org)
- Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma. (cdc.gov)
Cancer8
- Researchers narrowed in on new and known risk gene candidates with variant profiles for almost 83,500 individuals with breast cancer and 59,199 unaffected controls in Genome Medicine. (genomeweb.com)
- 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)
- Although the artifacts (for example, text files or XML) from each phase are available on the Cancer Gene Index web page, the sixth phase represents the final Cancer Gene Index data source. (nih.gov)
- We look at genes related to a variety of conditions, including heart disease, breast cancer, and hearing loss. (genome.gov)
- These genes are involved in pathways known to contribute to cancer pathogenesis, but before this study most would not have been candidates for targeted gene therapy. (wikipedia.org)
- this information is listed by gene mutation and by cancer type. (facingourrisk.org)
- Read about cancer treatment options listed by gene mutation, type of cancer and type of treatment. (facingourrisk.org)
- General pan-cancer genomic and experimental strategy for identifying and characterizing epigenetic driver genes and their environmental determinants. (who.int)
Findings1
- Our findings indicate that the pair-rule gene regulatory network has a temporally-modulated topology, permitting the pair-rule genes to play stage-specific patterning roles. (datadryad.org)
Generations1
- The frequencies of genes in the gene pool change as generations go by, and that is evolution. (latimes.com)
Potentially1
- In addition to the specific set of gene functions overexpressed in early and mature oral biofilms, as detected through the short-reads dataset, the long-reads approach detected specific changes when comparing the metatranscriptome of the same individual before and after a meal, which can narrow down the list of organisms responsible for acid production and therefore potentially involved in dental caries. (biomedcentral.com)
Loci1
- Although natural crossover recombination modifier loci have been detected in plants, causal genes have remained. (researchgate.net)