• These massive rearrangements suggest that there might not be single driver mutations, but that the quantitative alterations in cellular traits associated with malignant transformation is distributed among multiple genetic loci. (biomedcentral.com)
  • Here we report a dual strategy for assessing genetic variation overlooked by those prior efforts: low-frequency protein-coding variants genotyped by large-scale exome-focussed arrays and high-density X-chromosome single-nucleotide polymorphism (SNP) genotyping and imputation. (nature.com)
  • Genetic loci were functionally annotated using FUnctional Mapping and Annotation (FUMA). (plos.org)
  • Anti-citrullinated protein antibody specificities and pulmonary fibrosis in relation to genetic loci in early rheumatoid arthritis. (scilifelab.se)
  • To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study. (urosario.edu.co)
  • Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease. (urosario.edu.co)
  • YtrASa, a GntR-family transcription factor represses two genetic loci encoding membrane proteins in Sulfolobus acidocaldarius. (vub.be)
  • Description of protein loci and genetic divergence between Atlantic and Mediterranean populations = Anàlisi de la variabilitat genètica en el lluç europeu, Merluccius merluccius. (udg.edu)
  • We examined the genetic population structure of the european hake (Merluccius merluccius) using electrophoretically detectable population markers in 35 protein loci. (udg.edu)
  • The Nei genetic distance, D, (based on 33 loci) between samples from these two groups ranged from 0.002 to 0.006. (udg.edu)
  • Recombinant, E. coli recombinant proteins are genetic recombinations in Escherichia coli, supplied as white sterile powder lyopillized. (gentaur.com)
  • Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319 , in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. (springer.com)
  • Analysis with the both the 120-kDa protein primers and the VLPT primers showed that genetic variance exists. (google.com)
  • The aims of quantitative trait loci detection is the potential use of these molecular markers to increase accuracy in predicting the genetic merit of breeding and its implementation in animal breeding schemes through marker-assisted selection. (cambridge.org)
  • A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair. (health.am)
  • A second locus ( MKS2 ) has been mapped to band 11q13, demonstrating the clinical and genetic heterogeneity of Meckel-Gruber syndrome. (medscape.com)
  • The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). (bvsalud.org)
  • [ 8 , 9 ] Early genetic studies focused on searching protein coding sequences, although it is now recognised that coding variation explains only ~20% of genetic variation associated with IBD GWAS loci. (medscape.com)
  • Regulation of gene expression is primarily controlled by changes in the proteins that occupy genes' regulatory elements. (nature.com)
  • The INK4/ARF locus encodes three tumor suppressor genes (p15 Ink4b , Arf and p16 Ink4a ) and is frequently inactivated in a large number of human cancers. (plos.org)
  • This loss is accompanied with an increased expression of the histone demethylase Jmjd3 and with the recruitment of the MLL1 protein, and correlates with the expression of the Ink4a/Arf genes. (plos.org)
  • The loci include genes plausibly related to TGCT development. (nih.gov)
  • We applied novel statistical tools for polygenic architectures to investigate if there are common genes for depression, coronary artery disease and cardiovascular risk factors (body mass index, blood pressure, lipids, type 2 diabetes and c-reactive protein). (plos.org)
  • Click "Literature Details" to view all literature information for this locus, including shared literature between genes. (yeastgenome.org)
  • Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes. (yeastgenome.org)
  • The number of putative Regulators (genes that regulate it) and Targets (genes it regulates) for the given locus, based on experimental evidence. (yeastgenome.org)
  • Most genes carry information which is necessary to synthesize a protein. (health.am)
  • If one of these genes is defective, the other may code for sufficient protein, so that no disease is clinically apparent. (health.am)
  • The aims of this study were to describe the surface proteome of A. urinae and to analyse A. urinae genomes in search for genes encoding surface proteins. (lu.se)
  • All isolates had either one or two of these asp-genes located in a conserved locus, designated Locus encoding Aerococcal Surface Proteins (LASP). (lu.se)
  • The 25 genomes had in median 13 genes encoding LPXTG-proteins (range 6-24). (lu.se)
  • This study identified SNPs mapping to the HERC2, CDH17, and ODZ3 genes as potential susceptibility loci for DA. (cdc.gov)
  • LOCUS NC_029646 7518 bp RNA linear VRL 23-NOV-2018 DEFINITION Norovirus GII nonstructural polyprotein (ORF1), VP1 (ORF2), and VP2 (ORF3) genes, complete cds. (cdc.gov)
  • To reduce the risk of analyzing cell line- pathway can be divided into distinct stages based on the specific features, we used several representative cell lines for recombination status of the Ig genes and on the expression each of four major stages in B cell development: pro-B, pre-B, pattern of surface markers and the presence of intracellular proteins [1- 6]. (lu.se)
  • Genome wide association studies (GWAS) have mapped multiple independent cancer susceptibility loci to chr5p15.33. (lu.se)
  • Genome-wide association studies (GWAS) have now identified 235 inflammatory bowel disease (IBD)-associated susceptibility loci, substantially expanding our understanding of the biology underlying these diseases. (medscape.com)
  • Sixteen single-nucleotide polymorphisms (SNPs) were genotyped at and around the G72/G30 locus, which covered a 157-kb region encompassing the entire complementary DNA sequences of G72 and G30. (nih.gov)
  • The gene is also linked to Lupus as to SNPs in its locus were found to be related to serum IFN-α activity, which is elevated in many lupus patients and therefore is thought to be a causing factor. (wikipedia.org)
  • Thirty-seven of 53 SNPs are located in protein-coding regions. (peerj.com)
  • Some significant SNPs are associated with membrane and plastid proteins, as well as DNA transcription and binding regulators. (peerj.com)
  • Functional genomics data indicate that 2 of the suggestive SNPs (rs2446823 and rs2446824) are located within putative binding sites for the CCAAT/Enhancer Binding Protein (CEBP) and Hepatocyte Nuclear Factor 4, Alpha transcription factors (TFs), respectively. (cdc.gov)
  • Here, we show that fine-mapping of pancreatic and testicular cancer GWAS within one of these loci (Region 2 in CLPTM1L) focuses the signal to nine highly correlated SNPs. (lu.se)
  • Sequences diagnostic for E. chaffeensis from three different loci (16S rRNA, 120-kDa protein, and a variable-length polymerase chain reaction [PCR] target, or VLPT) were targeted for amplification by the PCR. (google.com)
  • One hundred and six genomic loci for this highly heritable trait have been mapped by genome-wide association studies (GWAS), implicating many previously unsuspected mechanisms 1 . (nature.com)
  • The objectives of this study were to quantify alterations in protein expression in two HER2+ cellular models of breast cancer and to infer differentially regulated signaling pathways in these models associated with the hallmarks of cancer. (biomedcentral.com)
  • Pathway inference tools were used to interpret these proteins in terms of functionally enriched pathways in the tumor cell lines. (biomedcentral.com)
  • We observed "protein ubiquitination" and "apoptosis signaling" pathways were both enriched in the two breast cancer models while "IGF signaling" and "cell motility" pathways were enriched in BT474 and "amino acid metabolism" were enriched in the SKBR3 cell line. (biomedcentral.com)
  • While "protein ubiquitination" and "apoptosis signaling" pathways were common to both the cell lines, the observed patterns of protein expression suggest that the evasion of apoptosis in each tumorigenic cell line occurs via different mechanisms. (biomedcentral.com)
  • High-throughput quantitative proteomic analysis has previously been used to identify differentially expressed proteins and pathways associated with breast tumor phenotypes [ 12 ]. (biomedcentral.com)
  • The AAA-ATPase (ATPases associated with diverse cellular activities) valosin-containing protein (VCP), is essential for many cellular pathways including but not limited to endoplasmic reticulum-associated degradation (ERAD), DNA damage responses, and cell cycle regulation. (portlandpress.com)
  • VCP primarily identifies ubiquitylated proteins in these pathways and mediates their unfolding and degradation by the 26S proteasome. (portlandpress.com)
  • Valosin-containing protein (VCP, also p97, or Cdc48p in yeast) is an evolutionarily conserved, homo-hexameric, ubiquitin-selective, AAA-ATPase that functions in numerous ubiquitin-dependent protein quality control pathways. (portlandpress.com)
  • In addition to these essential elements, several proteins and signalling pathways are also involved in photoperiodic responses in plants. (who.int)
  • Chromosome 7 open reading frame 57 is an uncharacterized protein found in humans and several other homologs. (wikipedia.org)
  • Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. (nature.com)
  • In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P =9.4 × 10 −13 ) and FAAH2 (rs5914101, P =4.9 × 10 −10 ). (nature.com)
  • The excisive recombination reaction of bacteriophage lambda involves a specific and efficient juxtaposition of two distant higher order protein-DNA complexes on the chromosome of Escherichia coli. (elsevierpure.com)
  • It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)
  • However, analysis of polymorphic DNA markers from 5 Finnish families revealed the Meckel-Gruber syndrome locus to be chromosome bands 17q21-24, telomeric to the homeo-box B ( HOXB ) region in 17q21-22. (medscape.com)
  • A second locus is at chromosome 2p16 (type 2). (bvsalud.org)
  • Differential expression of polycytosine-binding protein isoforms in adrenal gland, locus coeruleus and midbrain. (rochester.edu)
  • Induction of tyrosine hydroxylase in the locus coeruleus of transgenic mice in response to stress or nicotine treatment: lack of activation of tyrosine hydroxylase promoter activity. (rochester.edu)
  • Noradrenaline, also known as norepinephrine , is a neuromodulator produced by a structure deep in the brain called the locus coeruleus. (cosmosmagazine.com)
  • What this work shows is that the locus coeruleus encodes unexpected events, and paying attention to those surprising events is crucial for the brain to take stock of its environment," says senior author Mriganka Sur, the Newton Professor of Neuroscience in the Department of Brain and Cognitive Sciences at Massachusetts Institute of Technology (MIT), US. (cosmosmagazine.com)
  • Most of the brain's noradrenaline is produced by the two locus coeruleus nuclei, one in each brain hemisphere. (cosmosmagazine.com)
  • The neurons of the locus coeruleus are labeled with green fluorescent protein. (cosmosmagazine.com)
  • This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. (nih.gov)
  • This locus encodes both p16 INK4a , which prevents inactivation of the tumor suppressor RB, and p19 ARF , which stabilizes the tumor suppressor p53 [7] , [8] . (plos.org)
  • Kim, S & Landy, A 1992, ' Lambda Int protein bridges between higher order complexes at two distant chromosomal loci attL and attR ', Science , vol. 256, no. 5054, pp. 198-203. (elsevierpure.com)
  • These chromosomes are made up of extremely long DNA molecules in combination with chromosomal proteins. (health.am)
  • Chronic nicotine treatment leads to induction of tyrosine hydroxylase in locus ceruleus neurons: the role of transcriptional activation. (rochester.edu)
  • We developed genomic locus proteomics (GLoPro), in which we combine CRISPR-based genome targeting, proximity labeling, and quantitative proteomics to discover proteins associated with a specific genomic locus in native cellular contexts. (nature.com)
  • Real-time quantitative PCR (RT-qPCR) analysis and sfGFP (superfolder green fluorescent protein) analysis reveal that AmtR directly and negatively regulates the transcription and expression of crn A, cre T, csh A, and hyu B. A growth test shows that C. glutamicum ATCC 14067 can use creatine or creatinine as a sole nitrogen source. (frontiersin.org)
  • These results show that the average size of the quantitative trait loci effect was 1.6 phenotypic standard deviations for different traits and families. (cambridge.org)
  • However, relating gene expression with the specific role that the corresponding protein plays in a signaling pathway is complicated by post-transcriptional control of protein expression [ 8 ] and tight regulation of protein activity [ 9 ]. (biomedcentral.com)
  • A proteomic workflow was used to identify proteins in two HER2 positive tumorigenic cell lines (BT474 and SKBR3) that were differentially expressed relative to a normal human mammary epithelial cell line (184A1). (biomedcentral.com)
  • A total of 64 (BT474-184A1) and 69 (SKBR3-184A1) proteins were uniquely identified that were differentially expressed by at least 1.5-fold. (biomedcentral.com)
  • These complexes, which mediate synapsis and strand exchange, consist of two DNA sequences, att L and att R, the bivalent DNA binding protein Int, and the sequence-specific DNA bending proteins, IHF, Xis, and Fis. (elsevierpure.com)
  • These sequences represent the protein coding region of the STIL cDNA ORF which is encoded by the open reading frame (ORF) sequence. (genscript.com)
  • cAMP-mediated stimulation of tyrosine hydroxylase mRNA translation is mediated by polypyrimidine-rich sequences within its 3'-untranslated region and poly(C)-binding protein 2. (rochester.edu)
  • Plasmid and codon-optimized Cpf1-family protein sequences. (cdc.gov)
  • VCP identifies ubiquitylated substrates through numerous dedicated adaptor proteins and unfolds substrates by threading them through a central pore in the hexamer ( Figure 1 ). (portlandpress.com)
  • Genome-wide association study identifies novel loci associated with diisocyanate -induced occupational asthma. (cdc.gov)
  • Proteomic analysis identifies allele-preferred binding of Zinc finger protein 148 (ZNF148) to rs36115365- C, further supported by binding of purified recombinant ZNF148. (lu.se)
  • however, this locus has been excluded as a causative locus for Meckel-Gruber syndrome. (medscape.com)
  • Functional analyses of the shared loci implicated metabolism of alpha-linolenic acid pathway for type 2 diabetes. (plos.org)
  • TrypsNetDB: An integrated framework for the functional characterization of trypanosomatid proteins. (cdc.gov)
  • the c-terminal membrane-binding portion contributes to the Golgi disassembly and, therefore, functionally similar to the picornavirus 2B protein" /protein_id="YP_009238492.1" mat_peptide 995. (cdc.gov)
  • Six loci were polymorphic using the 0.05 criterion of polymorphism. (udg.edu)
  • The p48 and p44 isoforms also had impaired protein expression governed by the 3' end of the transcripts. (urosario.edu.co)
  • We here investigated overlap at the genome-wide level and in individual loci between depression, coronary artery disease and cardiovascular risk factors. (plos.org)
  • We used the bivariate causal mixture model (MiXeR) to quantify genome-wide polygenic overlap and the conditional/conjunctional false discovery rate (pleioFDR) method to identify shared loci, based on genome-wide association study summary statistics on depression (n = 450,619), coronary artery disease (n = 502,713) and nine cardiovascular risk factors (n = 204,402-776,078). (plos.org)
  • In this paper, we perform a genome-wide association study using a 22K SNP potato array to identify for the first time genomic regions associated with starch granule morphology and to increase number of known genome loci associated with potato starch yield. (peerj.com)
  • Fig. 2: Genomic locus proteomic analysis of MYC promoter. (nature.com)
  • NF- kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. (hmdb.ca)
  • Upon senescence, Jmjd3 is overexpressed and the MLL1 protein is recruited to the locus provoking the dissociation of Polycomb from the INK4/ARF locus, its transcriptional activation and its replication during early S-phase. (plos.org)
  • Human proteins, cDNA and human recombinants are used in human reactive ELISA kits and to produce anti-human mono and polyclonal antibodies. (gentaur.com)
  • The information contained in the nucleotide sequence of a gene is transcribed to mRNA (messenger RNA) by enzymes in the cell's nucleus and then translated to a protein in the cytoplasm. (health.am)
  • Click "Sequence Details" to view all sequence information for this locus, including that for other strains. (yeastgenome.org)
  • Click "Protein Details" for further information about the protein such as half-life, abundance, domains, domains shared with other proteins, protein sequence retrieval for various strains, physico-chemical properties, protein modification sites, and external identifiers for the protein. (yeastgenome.org)
  • Fig. 1: Genomic locus proteomics of hTERT . (nature.com)
  • In contrast to genomic-based assays, proteomics provides an attractive platform to profile this regulatory layer of protein activity and differences in the level of protein expression [ 10 ]. (biomedcentral.com)
  • Two proteins, denoted Aerococcal surface protein (Asp) 1 and 2, were through the use of mass spectrometry based proteomics found to quantitatively dominate the aerococcal surface. (lu.se)
  • VCP interacts with adaptor proteins to identify ubiquitylated substrates for degradation by the proteasome. (portlandpress.com)
  • Cell surface Notch receptor is thought to be a heterodimer consisting of the ligand binding extracellular region associated with the remaining transmembrane protein, as a result of post-translational proteolytic cleavage by a furin-like enzyme. (novusbio.com)
  • Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (medscape.com)
  • Basic sequence-derived (length, molecular weight, isoelectric point) and experimentally-determined (median abundance, median absolute deviation) protein information. (yeastgenome.org)
  • Thus, it will be of great interest to explore the function of the Asp proteins of A. urinae to establish a better understanding of the molecular mechanisms by which A. urinae cause disease. (lu.se)
  • Phytochromes play a key role in how plants perceive the day in the complex network of proteins and signalling channels that make up the molecular mechanisms behind photoperiodic responses in plants. (who.int)
  • Positive Expression of Retinol-Binding Protein 4 Is Related to the Malignant Clinical Features Leading to Poor Prognosis of Glioblastoma. (nih.gov)
  • Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation. (nih.gov)
  • This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. (origene.com)
  • GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. (genscript.com)
  • Protein expression is influenced by many factors that may vary between experiments or laboratories. (genscript.com)
  • Exposure to light in SDPs causes the expression of the CONSTANS (CO) gene, and the CO protein causes the expression of the FLOWERING LOCUS T (FT), a gene that encourages flowering. (who.int)
  • The FT gene's expression is encouraged by GI's interaction with the protein ZEITLUPE (ZTL), which also encourages flowering. (who.int)
  • Of these, rs36115365-C associated with increased pancreatic and testicular but decreased lung cancer and melanoma risk, and exhibited preferred protein-binding and enhanced regulatory activity. (lu.se)
  • Click "Regulation Details" to view all regulation annotations, shared GO enrichment among regulation Targets, and a regulator/target diagram for the locus. (yeastgenome.org)
  • Together, these results provide a unified model that integrates replication, transcription and epigenetics at the INK4/ARF locus. (plos.org)
  • Moreover, we show that the Polycomb protein BMI1 interacts with CDC6, an essential regulator of DNA replication in eukaryotic cells. (plos.org)