• These results are reinforced by data integration including single nucleotide polymorphism array and gene expression array. (kb.se)
  • The aims of this study were to identify Single Nucleotide Polymorphism (SNP) in exon 5 and 6 of CAPN1 gene and its associate with carcass and meat characteristic traits in bali cattle. (undip.ac.id)
  • Analysis of polymorphism was conducted by PopGen 1.32 software to identify frequencies of genotype, allele and Hardy-Weinberg equilibrium. (undip.ac.id)
  • The genotypes of IL-10-592 A/C, -819 C/T and -1082 G/A sites were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and polymerase chain reaction-ligase detection reaction (PCR-LDR) combined with the sequencing analysis in 226 cases of posthepatitis B cirrhosis. (jcimjournal.com)
  • The aim of this study was to investigate the effect of the µ-opioid receptor gene (OPRM1) A118G polymorphism on the requirement for post-operative fentanyl analgesia in patients undergoing radical gastrectomy. (spandidos-publications.com)
  • The frequency of the G allele was 0.371 in the OPRM1 polymorphism. (spandidos-publications.com)
  • The aim of this study was to explore the DBP gene polymorphism and the risk of disease among TB patients and household contacts with and without HIV infection. (h3africa.org)
  • Secondly, of AZFb region showing single nucleotide gene polymorphism rs2524543, G→T and rs2563389, T→ G of PCDH11Y gene in homozygous condition. (journalcra.com)
  • The differences are analyzed by DNA sequencing or by methods developed to quantify SNPs, such as Pyrosequencing (Biotage) or MassArray (Sequenom), measuring the relative amounts of C/T at the CG dinucleotide. (wikipedia.org)
  • Single Nucleotide Polymorphisms (SNPs) are among the most important types of genetic variations influencing common diseases and phenotypes. (biomedcentral.com)
  • Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
  • Evidence for linkage was supported by linkage analysis with the two SNPs, with a maximal multipoint nonparametric linkage score of 1.57 and a maximal multipoint heterogeneity lod score of 2.11. (neurotransmitter.net)
  • CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)
  • Genotypes of three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing, and a case-control association study was performed. (molvis.org)
  • There was no significant association between the genotype frequencies of the three SNPs and the XFS phenotypes. (molvis.org)
  • Thus, the present study was designed to confirm the association of three SNPs in the LOXL1 gene with XFS in a Korean population and to compare results to previous studies of other ethnic groups. (molvis.org)
  • Sequencing analysis at exon 5-6 of CAPN1 gene in Bali cattle resulted in eight polymorphic SNPs. (undip.ac.id)
  • We describe a multistage approach to identify single nucleotide polymorphisms (SNPs) associated with neuroticism, a personality trait that shares genetic determinants with major depression and anxiety disorders. (ox.ac.uk)
  • Furthermore, they evaluated the face gene enrichment in 19,277 SNPs of 3,730 genes by applying a hypergeometric test and a 10,000 iterations Monte Carlo simulation. (news-medical.net)
  • Four tagged single-nucleotide polymorphisms (SNPs) of HMGB1 were detected by a TaqMan-based real-time polymerase chain reaction (PCR) in patients. (jcancer.org)
  • With the release of a genome wide SNPs database, it has become feasible to analyse these genetically determined QTLs for genes polymorphic in these strains. (bmj.com)
  • All 11 selected SNPs within candidate genes were verified by polymerase chain reaction (PCR) sequencing. (bmj.com)
  • To investigate the relationship between single-nucleotide polymorphisms (SNPs) of interleukin-10 (IL-10) and syndrome types of traditional Chinese medicine (TCM) in posthepatitis B cirrhosis. (jcimjournal.com)
  • The genotype and allele frequency distribution, and the relationship between the SNPs and TCM syndromes were analyzed. (jcimjournal.com)
  • Numerous single nucleotide polymorphisms (SNPs) have been identified in the OPRM1 gene [ http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=4988 ]. (spandidos-publications.com)
  • 2020). The two extensively studied non-synonymous DBP single nucleotide polymorphisms (SNPs) rs7041 and rs4588 occur in different populations (Santos et al. (h3africa.org)
  • Eight positional candidate genes were identified among the 39 genes in the approximately 1 Mb interval to which the disease was mapped previously. (nih.gov)
  • METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
  • The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
  • Thus, the first step in identifying the disease-susceptibility genes should involve identification of candidate genes. (livemint.com)
  • Candidate genes for T2DM include genes responsible for pancreatic cell (Beta cell), insulin action/glucose metabolism, or other metabolic conditions that increase T2DM risk (eg, energy intake/expenditure, lipid metabolism). (livemint.com)
  • More than 50 candidate genes for T2DM have been studied worldwide. (livemint.com)
  • Comparison of gene expression levels between pools and treatments identified candidate genes for further analysis of the genetic basis of drought tolerance in red clover. (biomedcentral.com)
  • Differential expression of six of seven candidate genes were confirmed. (bmj.com)
  • Sequence data of the revised genome annotation including several hundreds of novel transcripts, improved gene models and candidate genes for alternative splicing have been made accessible in a comprehensive database. (biomedcentral.com)
  • A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. (broadinstitute.org)
  • To identify the causal mutation in this family, we performed exome sequencing in 2 participants with hypocholesterolemia and fatty liver. (broadinstitute.org)
  • The gentotypic analysis of 16 family members in total showed that this mutation segregated with the low cholesterol trait. (broadinstitute.org)
  • T APOB gene mutation. (broadinstitute.org)
  • We used exome sequencing to discover a novel nonsense mutation in exon 26 of APOB (p.K2240X) responsible for low cholesterol and fatty liver in a large kindred. (broadinstitute.org)
  • By sequencing pairs of normal and tumour genomes from large patient cohorts, projects such as the ICGC (International Cancer Genome Consortium) and TCGA (The Cancer Genome Atlas) aim to create definitive driver mutation catalogues for all common cancers 1 , 2 . (nature.com)
  • Conclusions Results suggested that the NGS approach based on AmpliSeq™ libraries and Ion Personal Genome Machine (PGM) sequencing is a highly efficient mutation detection method. (researchgate.net)
  • The genetic composition of a population's gene pool changes over time owing to mutation and other factors. (livemint.com)
  • The rationale behind the present study to understand the genetic basis of male infertility, to identify the "novel gene mutation" and also asses the frequency (%) of microdeletion of Y-chromosome i.e. deletion of AZF regions interfare during spermatogenesis. (journalcra.com)
  • Results: Mutational spectra include the individual variations of frequency of AZF gene mutation as a factor responsible for male infertility in eastern part of the country. (journalcra.com)
  • NGS play a significant role to explore the involvement of de novo mutation of USP9Y and PCDH11Y gene mutation resulting changes in protamines. (journalcra.com)
  • Hence, curiosity has been developed further to identify "new mutations" based on Next Gen Sequencing, identifies USP9Y gene of AZFa region showing non-frame shift mutation (insertion of C→G/C→A) at region exon42:c.6996_6997 insCGA in heterozygous condition. (journalcra.com)
  • G) point mutation at nucleotide 1691 in Farhat Hached Hospital, Sousse. (who.int)
  • Sanger sequencing of seven affected, six obligate carrier, two phenotypically unaffected animals from the original flock and one unrelated control animal validated the variant. (nih.gov)
  • T) was identified, and this variant was confirmed by Sanger sequencing. (broadinstitute.org)
  • UBIAD1 coding exons were amplified and Sanger sequenced in each proband. (biomedcentral.com)
  • We then performed PCR amplification and Sanger sequencing of the two UBIAD1 coding exons and exon/intron boundaries (primer sequences and conditions are listed in Table 2 ). (biomedcentral.com)
  • We genotyped the DBP gene by Sanger sequencing and the single nucleotide polymorphisms were identified using the BioEdit tool. (h3africa.org)
  • Genotype frequencies of each SNP were compared according to the XFS phenotypes. (molvis.org)
  • The association of CAPN1 gene genotype with carcass and meat characteristic traits was analyzed using Generalized Linear Model (GLM) procedure of SAS. (undip.ac.id)
  • 2017). The wild-type Gc1F genotype is predominantly found in the African population, with a low frequency of Gc2 and Gc1S genotypes, and it is associated with low vitamin D levels in whites. (h3africa.org)
  • Obscurin like cytoskeletal adaptor 1 (OBSL1) was selected as a strong positional candidate gene based on gene function and the resulting phenotypes observed in humans with mutations in this gene. (nih.gov)
  • Whole genome sequencing makes it possible to comprehensively discover the mutations, and the mutated genes, that are responsible for tumour formation. (nature.com)
  • Following the initial increase of the gene drive we observed a gradual decrease in its frequency that was accompanied by the spread of small, nuclease-induced mutations at the target gene that are resistant to further cleavage and restore its functionality. (imperial.ac.uk)
  • Such mutations showed rates of increase consistent with positive selection in the face of the gene drive. (imperial.ac.uk)
  • DNA sequencing of 623 genes with known or potential relationships to cancer revealed more than 1,000 somatic mutations across the samples. (kb.se)
  • These data provide evidence of somatic mutations in primary lung adenocarcinoma for several tumour suppressor genes involved in other cancers--including NF1, APC, RB1 and ATM--and for sequence changes in PTPRD as well as the frequently deleted gene LRP1B. (kb.se)
  • We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
  • The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
  • Despite a lack of previously reported NOTCH1 mutations, integrated analysis showed enrichments of alterations affecting Notch signaling in OTSCC. (biomedcentral.com)
  • We also observed somatic mutations in multiple therapeutically relevant genes, which may represent candidate drug targets in this highly lethal tumor type. (biomedcentral.com)
  • In this study, we investigated the presence of plasmid-mediated quinolone resistance (PMQR) genes among 101 ciprofloxacin-resistant urinary Escherichia coli isolates and searched for mutations in the quinolone-resistance-determining regions (QRDRs) of the DNA gyrase and topoisomerase IV genes in PMQR-carrying isolates. (scielo.br)
  • A mutational analysis of the QRDRs in qnr and aac(6')-Ib-cr-positive isolates revealed mutations in gyrA, parC and parE that might be associated with high levels of resistance to quinolones. (scielo.br)
  • Quinolone resistance among Enterobacteriaceae originally occurred due to chromosomal mutations in the quinolone-resistance-determining regions (QRDRs) of the gyrA and gyrB genes, which encode the gyrase A and B subunits, respectively and the parC and parE genes, which encode topoisomerase IV subunits (Hernández et al. (scielo.br)
  • Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)
  • No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)
  • Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl‑tRNA synthetase 2 (RARS2) gene. (spandidos-publications.com)
  • Mutations in the USB1 gene are thought to lead to an enzyme whose function is impaired. (medlineplus.gov)
  • The specific connection between USB1 gene mutations and the signs and symptoms of PN is unknown. (medlineplus.gov)
  • A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
  • SNP in exon 5 and 6 of CAPN1 gene were identify with direct sequencing using MEGA 5 program. (undip.ac.id)
  • For example, an exon state in a GHMM can be trained by collecting n -gram statistics (i.e., counts of n -letter substrings) from known exon sequences and normalizing these into transition probabilities for an ( n -1) th -order Markov chain [ 15 ]. (biomedcentral.com)
  • Based on the nucleotide sequence information of transcripts, we identified 819 novel transcriptionally active regions (nTARs) and revised 906 incorrectly predicted gene models, including revisions of exon-intron structure, gene orientation and sequencing errors. (biomedcentral.com)
  • The HLA-Bw53 sequence is identical to HLA-B35 except for a short sequence at the 3' end of exon 2 (encoding the alpha 1 domain) which specifies a Bw4 rather than a Bw6 motif. (ox.ac.uk)
  • Approximately 22 400 single nucleotide variants were identified in each sample. (broadinstitute.org)
  • Our pipeline, ExInAtor, identifies genes with excess load of somatic single nucleotide variants (SNVs) across panels of tumour genomes. (nature.com)
  • Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. (kb.se)
  • Eight single nucleotide polymorphisms (SNP) in the NAT2 coding region and a variant in the 3′ flanking region were analyzed in 290 unrelated Kyrgyz and 140 unrelated Romanians by SNP-specific PCR analysis. (aacrjournals.org)
  • This de novo assembly of a red clover transcriptome from leaf material of droughted and non-droughted plants provides a rich source for gene identification, single nucleotide polymorphisms (SNP) and short sequence repeats (SSR). (biomedcentral.com)
  • For the genomic information, the researchers ran single nucleotide polymorphisms (SNP) microarray that interrogated 4,327,108 genetic variants selected from the International HapMap and 1,000 Genomes Projects and targeted genetic variation down to 1% minor allele frequency (MAF). (news-medical.net)
  • Using 21,945 single nucleotide polymorphisms, we identified 18 candidate unigenes associated with hearing, five of which were differentially expressed among the three populations. (biomedcentral.com)
  • In total, 21 single-nucleotide polymorphisms including three new coding variants, V394M, E405K, and D256N, were identified by direct DNA sequencing in 50 randomly selected subjects and in individuals who exhibited an outlier phenotype response in the omeprazole study. (aspetjournals.org)
  • NMR spectroscopy or X-ray crystallography, but important width measurements at a single resonance frequency (or questions remain concerning the energetics, stability, and magnetic field strength), making it difficult to separate dynamics of this structurally diverse nucleic acid class. (lu.se)
  • HPS type 1 is the most common single gene disorder in Puerto Rico. (medscape.com)
  • In humans, the wide variety of carcinogens and varying degrees of exposure make identifying the predisposing genes difficult, but in a mouse model, such confounding variables can be controlled. (bmj.com)
  • Identification of the genes predisposing to mouse lung cancer could have considerable implications for diagnosis, treatment, or chemoprevention of lung cancer in humans. (bmj.com)
  • Large-scale genomics and transcriptomics approaches have been proven to enable the identification of pathogenicity genes in fungi affecting humans or plants [ 8 ], which makes them valuable tools towards a better understanding of fungal infection mechanisms. (biomedcentral.com)
  • This arrest is caused by an abnormal expression of genes, often as a result of chromosomal translocations or abnormalities of chromosome number. (medscape.com)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • We performed phylogenetic analysis of Y-chromosome lineages in a sample of 587 Bashkirs drawn from different parts of the southern Ural region and neighbouring areas: Abzelilovskiy (N=152), Sterlibashevskiy (N=54), Baimakskiy (N=95), and Burzyanskiy (N=82) districts of Bashkortostan republic, Orenburg (N=79), Perm (N=72), Samara and Saratov (N=51) Oblasts of Russia. (blogspot.com)
  • Study was performed using RT-PCR based analysis using 14 set of STS markers of AZF region allocated on Y- chromosome and NextGen Sequencing. (journalcra.com)
  • Background: Studies show that the DBP gene located at 4q12-q13 is highly polymorphic with over 120 variants (Bikle & Schwartz, 2019). (h3africa.org)
  • We used the polymerase chain reaction to amplify cDNA from an individual homozygous for this allele and determined the nucleotide sequence of the polymorphic alpha 1 and alpha 2 domains. (ox.ac.uk)
  • The method adds a large amount of genetic information as a basis for complete analysis of TRPV1 ion channel genetics and its functional consequences. (researchgate.net)
  • These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. (kb.se)
  • Simply put, population genetics is the study of genetic variation within populations and assessment of changes in the frequencies of genetic variations and alleles in populations. (livemint.com)
  • Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. (ox.ac.uk)
  • We have previously investigated the pattern of genetic differentiation among human populations at 36.8 million genomic variants to identify sites in the genome showing high frequency differences. (ox.ac.uk)
  • Genomic analyses clustered only one couple together per copy number variation (CNVs). (news-medical.net)
  • An annotated genomic sequence of the corn anthracnose fungus Colletotrichum graminicola has been published previously, but correct identification of gene models by means of automated gene annotation remains a challenge. (biomedcentral.com)
  • Breast tumors can be classified into subtypes based on patterns of gene expression, DNA methylation, nucleotide substitutions and genomic rearrangements. (lu.se)
  • The Sweden Cancerome Analysis Network - Breast (SCAN-B) Initiative: a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine. (lu.se)
  • To exclude culture- cloning assay with direct analysis of nested reverse tran- derived artifacts and estimate mutational heterogeneity, scription-polymerase chain reaction products in sequence. (cdc.gov)
  • One hundred thirteen sequence variations with nine recur- ples, and a TA-cloning assay was used with direct analysis rent variant sites were identified in analyzed S-gene of reverse transcriptase-polymerase chain reaction (RT- sequences compared with the BJ01 strain of SARS-CoV. (cdc.gov)
  • Transcription of a gene by RNA polymerase can be regulated by several mechanisms. (wikipedia.org)
  • N-terminal of MSP-1 gene were amplified from 126 clinical samples collected from imported cases of malaria in migrant workers returning to Jiangsu Province from Africa using a conventional polymerase chain reaction (PCR) assay. (biomedcentral.com)
  • OPRM1 A118G was screened by DNA sequence analysis of polymerase chain reaction (PCR)-amplified DNA. (spandidos-publications.com)
  • Methylation of DNA is a common method of gene silencing. (wikipedia.org)
  • Analysis of the pattern of methylation in a given region of DNA (which can be a promoter) can be achieved through a method called bisulfite mapping. (wikipedia.org)
  • Often, DNA methylation and histone deacetylation work together in gene silencing. (wikipedia.org)
  • For epigenetic analyses, the researchers used a DNA methylation microarray that evaluated over 0.85 million 5'-cytosine-phosphate-guanine-3' (CpG) sites. (news-medical.net)
  • Gene drives have enormous potential for the control of insect populations of medical and agricultural relevance. (imperial.ac.uk)
  • As part of a project on environmental disasters in minority populations, this study aimed to evaluate differences in the sequence of N-acetyltransferase 2 ( NAT2 ) as a metabolic susceptibility gene in yet unexplored ethnicities. (aacrjournals.org)
  • Analysis of genetic relationships between populations reveals three main clusters of populations in space of two first PCs reflecting the differential presence of ancient West-Eurasian Caucasoid, Proto-Uralic and Paleoasiatic components. (blogspot.com)
  • Additionally, it can knock out genes, facilitating efforts to elucidate gene functions through the analysis of mutant phenotypes. (mdpi.com)
  • In summary, this report characterizes the allele frequency and haplotype distribution of CYP2C19 in a Korean population and provides functional analysis of new coding variants of the CYP2C19 gene. (aspetjournals.org)
  • The allele frequency was 3.5% in the normal Tunisian population. (who.int)
  • Our findings demonstrate the coexistence of S- gene sequences with and without substitutions (compared to BJ01) in samples analyzed from some patients. (cdc.gov)
  • Most of the nucleotide substitutions detected were non-synonymous, indicating that the genetic variations of pomsp1 were maintained by positive diversifying selection, thereby suggesting their role as a potential target of a protective immune response. (biomedcentral.com)
  • CONCLUSIONS: The frequency of eye exams was alarmingly low, adding to the abundant literature that systemic changes in health care may be needed to detect and prevent vision-threatening eye disease among people with diabetes. (cdc.gov)
  • Broad Genomics Platform sequences a whole human genome every four minutes. (broadinstitute.org)
  • In November 2022, Broad's Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th. (broadinstitute.org)
  • We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. (kb.se)
  • Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. (kb.se)
  • We have also attempted to verify a series of differentially expressed candidate susceptibility genes to lung tumours in our previous microarray analysis with semiquantitative reverse transcriptase PCR (RT-PCR). (bmj.com)
  • Pathogenic germline sequence variants in two major susceptibility genes BRCA1 and BRCA2 confer a high relative risk and explain a proportion of familial breast cancer. (lu.se)
  • Besides those external factors, internal molecular mechanisms also play an important role in the geographic variation of acoustic signals, because phenotypic changes indicate changes in gene expression, and genotypes can affect gene expression based on interactions between genotypes and the environment [ 15 ]. (biomedcentral.com)
  • Results: The study frequency distributions of the DBP genotypes were reported as 97% Gc1F, 2% Gc2 and 1% Gc1S and Hardy-Weinberg equilibrium analysis was in equilibrium, D'= 0. (h3africa.org)
  • Phylogenetic analysis of 18S rRNA gene sequences placed the Chadian Brugia sp. (bvsalud.org)
  • METHODS: Culture-dependent and -independent (16S rRNA gene clone libraries were constructed) methods were used to determine the composition of LAB in fermented cabbage. (who.int)
  • RESULTS: Ninety LAB isolated from fermented cabbage were identified as species of Lactobacillus and Leuconostoc, whereas 115 clones of the 16S rRNA gene sequence from fermented cabbage DNA were identified as Lactobacillus, Weissella, Pediococcus and Leuconostoc. (who.int)
  • Among these, we rediscover known examples, where we actually identify the established functional SNP, and discover novel examples including the genes ABCA12, CALD1 and ZNF804, which we speculate may be linked to adaptations in skin, calcium metabolism and defense, respectively. (ox.ac.uk)
  • Microinjection of the major cluster clones in to Xenopus oocytes, confirmed that these genes were functional. (bl.uk)
  • Microinjection analysis again showed the genes were functional. (bl.uk)
  • further studies will be developed such as immunogenicity and functional analysis. (biomedcentral.com)
  • 4462 functional sequence variations in regulatory DNA regions in training dataset F1 and 1116 functional SNVs in test datasets F2. (lu.se)
  • Whole genome sequencing of an affected lamb (BCRHS3) identified a likely causal variant ENSOARG00000020239:g.220472248delC within OBSL1. (nih.gov)
  • Whole genome sequencing. (nih.gov)
  • Analysis of Genetic Inheritance in a Family Quartet by Whole Genome Sequencing, 328 SCIENCE 636 (2010). (jdsupra.com)
  • Whole genome sequencing by UPHL, a regional labora- bers and to collect environmental samples. (cdc.gov)
  • A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. (lu.se)
  • SNP}, abstract = { Calpain-1 gene (CAPN1) produces an calpain enzyme controlling structure of meat protein and tenderness. (undip.ac.id)
  • ABSTRACT The World Health Organization (WHO) formulates recommendations for viruses to be included in vaccines for the influenza seasons in the northern and southern hemispheres on the basis of analyses by its collaborating centres (CCs). (who.int)
  • The comparison of TRBV, TRBJ usage and VJ combination frequency identified 2 TRBV genes, 2 TRBJ genes differentially expressed among different groups and different higher usage and lower usage of V-J combinations between each group. (oncotarget.com)
  • Importantly, these Notch pathway alterations were prognostic on multivariate analyses. (biomedcentral.com)
  • Multivariate analyses indicated that although most tooth loss measures improved between surveys for both income groups, tooth loss among low-income adults remained at almost twice that among higher-income adults. (cdc.gov)
  • Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer's disease. (ox.ac.uk)
  • 3 Identification of the genes predisposing to cancer could yield targets for treatment or chemoprevention. (bmj.com)
  • RNA-Seq offers the potential for substantially improved gene annotations and for the identification of posttranscriptional RNA modifications, such as alternative splicing and RNA editing. (biomedcentral.com)
  • CRPA isolates for carbapenemase genes and implementation of occupied room X while receiving mechanical ventilation for sink hygiene interventions, was critical in the identification of 4 weeks. (cdc.gov)
  • Identification of Subtypes in Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Reveals a Gene Signature Prognostic of Outcome. (lu.se)
  • Two synonymous germline in a majority of these patients.10 13 The same sequence variants were identified in two separate investigators also found somatic sequence variants patients. (cdc.gov)
  • The picture of histone gene cluster structure in X. borealis that emerges from these studies, is compared at the nucleotide, gene, and chromosomal levels with X. laevis. (bl.uk)
  • In sum these 7 haplogroups comprise 86% of Y-chromosomal gene pool in North Eurasia. (blogspot.com)
  • Based on analysis of microsatellite haplotypes within main Y- chromosomal haplogroups, molecular diversity within monophyletic lineages were calculated and phylogenetic trees for most common haplogroups were reconstructed. (blogspot.com)
  • As explained in the opinion, the claimed method involves determining haplotype phase, i.e ., 'a process for determining the parent from whom alleles- i.e ., versions of a gene-are inherited. (jdsupra.com)
  • In the haplotype analysis, the T-G-C haplotype composed of all three risk alleles was significantly overrepresented in XFS and conferred an 11.36 fold (95% CI=5.97-23.49) increased likelihood of XFS. (molvis.org)
  • Alleles are nucleotide bases (A, T, G and C) found in the DNA in different combinations and demonstrate genetic variations. (livemint.com)
  • These alleles collectively form a cluster known as the gene pool of a certain population. (livemint.com)
  • Proto-oncogene lncRNAs include HOTAIR, upregulated in multiple cancers, which recruits the repressive PRC2 chromatin regulatory complex to hundreds of genes 11 . (nature.com)
  • Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. (kb.se)
  • A high proportion of OTSCCs also presented with alterations in drug targetable and chromatin remodeling genes. (biomedcentral.com)
  • Regulation of gene expression, or gene regulation, includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA). (wikipedia.org)
  • Virtually any step of gene expression can be modulated, from transcriptional initiation, to RNA processing, and to the post-translational modification of a protein. (wikipedia.org)
  • Gene regulation is essential for viruses, prokaryotes and eukaryotes as it increases the versatility and adaptability of an organism by allowing the cell to express protein when needed. (wikipedia.org)
  • Any step of gene expression may be modulated, from signaling to transcription to post-translational modification of a protein. (wikipedia.org)
  • Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. (kb.se)
  • Therefore, the aim of the present study was to determine the extent of genetic variation among two subspecies of P. ovale by characterizing the MSP-1 N-terminal sequence at the nucleotide and protein levels. (biomedcentral.com)
  • The human mu-opioid receptor gene (OPRM1) encodes the μ -opioid receptor protein, which is the main target of the analgesic, fentanyl. (spandidos-publications.com)
  • F2 contains 6550 variants randomly sampled from the set of common human SNVs without clinical assertion associated with protein-coding genes in F1. (lu.se)
  • F3 contains 770 variants as a validation set including 70 SNVs in 'positive' set in non-coding regions of protein-coding genes newly reported and 700 randomly sampled common human variants, matched per type of region to the 'positive' set. (lu.se)
  • Results: One non-synonymous germline sequence variant iants as well as multiple haplotypes were observed was identified in one patient. (cdc.gov)
  • These noncoding regions contain a wealth of regulatory sequences and non-coding RNAs whose role in cancer has been neglected until now 3 . (nature.com)
  • New sequencing technology provides thorough characterization of the genome and transcriptome. (lu.se)
  • Mendelian regulatory variations including 42 enhancer, 142 promoter, 153 5' UTR, 43 3' UTR, 65 RNA gene, 3 imprinting control region, and 5 microRNA gene variations. (lu.se)
  • F1 contains 655 high-confidence pathogenic non-coding variants associated with monogenic Mendelian disease genes. (lu.se)
  • S-gene amplification, but only those that generated all six aviruses such as mouse hepatitis virus (MHV) (5,6). (cdc.gov)
  • 1). For the S-gene amplification, 18 pairs of primers were designed by using MacVactor computer software (Accelrys Inc, San Diego, CA) based on the BJ01 strain of SARS-CoV (GenBank accession no. (cdc.gov)
  • We found high levels of sequence similarity to B. malayi and B. pahangi based on amplification of 18S rRNA, 5.8S rRNA, and ITS-2 regions. (bvsalud.org)
  • In this paper, we described and discussed the process of constructing ranked SNP-phenotype association corpus (SNPPhenA), inter-annotator agreement analyses and the results of some utilized baseline methods during an initial experiment. (biomedcentral.com)
  • Results The amplicons covered approximately 97% of the target sequence. (researchgate.net)
  • Similar results were observed using TRANSMIT for the analyses. (neurotransmitter.net)
  • One of the most striking results from the expression analysis was that the drought sensitive plants were characterised by having approximately twice the number of differentially expressed transcript tags than the tolerant plants after drought. (biomedcentral.com)
  • Patients were genotyped for a panel of 192 tagging polymorphisms in 34 immune-related genes. (frontiersin.org)
  • The purpose of this study was to evaluate association profiles of lysyl oxidase-like 1 ( LOXL1 ) gene polymorphisms with pseudoexfoliation syndrome (XFS) in a Korean population. (molvis.org)
  • This tions in the KRAS gene are frequent- quently at very low doses ( Hecht, indicates considerable concordance ly observed in lung adenocarcinoma 1998) . (who.int)
  • Analyses of the effects of common variation in this gene on risk for late onset AD have been inconclusive. (ox.ac.uk)
  • We investigated the effect of rare variation in the coding regions of the Nicastrin gene in a cohort of AD patients and matched controls using an innovative pooling approach and next generation sequencing. (ox.ac.uk)
  • Although the sensory drive hypothesis can explain the geographic variation in echolocation frequencies of some bat species, the molecular mechanisms underlying this phenomenon are still unclear. (biomedcentral.com)
  • The three lineages of greater horseshoe bat ( Rhinolophus ferrumequinum ) in China (northeast, central-east, and southwest) have significant geographic variation in resting frequencies (RF) of echolocation calls. (biomedcentral.com)
  • Because their cochleae have an acoustic fovea that is highly sensitive to a narrow range of frequencies, we reported the transcriptomes of cochleae collected from three genetic lineages of R. ferrumequinum , which is an ideal organism for studying geographic variation in echolocation signals, and tried to understand the mechanisms behind this bat phenomenon by analyzing gene expression and sequence variation. (biomedcentral.com)
  • The variability of gene expression and sequence divergence at the molecular level might provide evidence that can help elucidate the genetic basis of geographic variation in echolocation signals of greater horseshoe bats. (biomedcentral.com)
  • Despite the high intra-ethnic variation (Gst=0.03 on average), the inter-ethnic differences were five times higher (Gst=0.15), revealing dominance of inter-ethnic variation in structuring the paternal gene pool in Europe. (blogspot.com)
  • The average pairwise nucleotide diversities ( π ) of P. ovale curtisi and P. ovale wallikeri MSP-1 genes ( pomsp1 ) were 0.01043 and 0.01974, respectively, and the haplotype diversity ( Hd ) were 0.746 and 0.598, respectively. (biomedcentral.com)
  • Certain genetic variations in the GPX1 (Glutathione peroxidase) and EPHX1 (Epoxide hydrolase) genes are among the few that have been studied by researchers. (livemint.com)
  • We have presented a first catalogue of mutated lncRNA genes driving cancer, which will grow and improve with the application of ExInAtor to future tumour genome projects. (nature.com)
  • Here we used a combination of multiplex PCR and next-generation sequencing to conduct a good quality analysis of the T-cell receptor BV complementarity-determining region 3 (TCR BV CDR3) gene in peripheral blood mononuclear cells (PBMCs) from 7 sarcoidosis patients and lung sarcoidosis tissue from 6 patients. (oncotarget.com)
  • Deriving gene-opioid associations from data sampled from patients with cancer pain is difficult since the mechanism, severity and nature of cancer pain differs substantially from patient to patient ( 10 ). (spandidos-publications.com)
  • Analysis of these clones indicated one class containing the major cluster, and a second, minor class which appeared to be cloned at high frequency. (bl.uk)
  • The only exception is R1b2 lineage which was found with very high frequency among Transural Bashkirs. (blogspot.com)
  • In the West African population of the Gambia the class I antigen HLA- Bw53 is found at high frequency. (ox.ac.uk)
  • Comparative analysis of RNA-Seq data and the genome sequence did not provide evidence for RNA editing in C. graminicola . (biomedcentral.com)
  • We also found 49 unigenes that were under positive selection from 4105 one-to-one orthologous gene pairs between the three R. ferrumequinum lineages and three other Chiroptera species. (biomedcentral.com)
  • For microbiome analysis, they performed ribosomal ribonucleic acid (RNA) direct sequencing. (news-medical.net)
  • In multicellular organisms, gene regulation drives cellular differentiation and morphogenesis in the embryo, leading to the creation of different cell types that possess different gene expression profiles from the same genome sequence. (wikipedia.org)
  • Furthermore, sequence homology between mammalian and fungal genes in the GPI pathway show modest conservation raising the chances of finding fungal-selective molecules with good therapeutic index 8 . (nature.com)
  • Some of these modifications that regulate gene expression are inheritable and are referred to as epigenetic regulation. (wikipedia.org)
  • Although we inherit genetic material from our parents, it is at times reshaped by certain epigenetic alterations-influencing (silencing or over-expressing) the activity of certain genes. (livemint.com)