• This study sought to estimate the occurrence of compound and double heterozygotes for mutations in desmosomal proteins encoding genes in a cohort of ARVC/D Italian index cases, and to assess the clinical phenotype of mutations carriers. (nih.gov)
  • Fourty-two consecutive ARVC/D index cases who fulfilled the International Task Force diagnostic criteria were screened for mutations in PKP2, DSP, DSG2, DSC2, and JUP genes by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing. (nih.gov)
  • Three probands (7.1%) showing a family history of sudden death carried multiple mutations. (nih.gov)
  • Among the 7 double heterozygotes for mutations in different genes, 2 were clinically unaffected, 2 were affected, and 3 showed some clinical signs of ARVC/D even if they did not fulfill the diagnostic criteria. (nih.gov)
  • Two compound heterozygotes for mutations in the same gene and 1 subject carrying 3 different mutations showed a severe form of the disease with heart failure onset at a young age. (nih.gov)
  • MEN-1 is due to mutations in the tumor suppressor gene MEN1, located on chromosome 11q13. (medscape.com)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Mutations in this gene are thought to cause obesity. (antikoerper-online.de)
  • Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. (antikoerper-online.de)
  • Mutations in nht, mia and sa have similar effects in primary spermatocytes on transcription of several target genes involved in spermatid differentiation, and cause the same phenotypes as mutations in can , blocking both meiotic cell cycle progression and spermatid differentiation. (sdbonline.org)
  • Mutations in this gene are associated with lactate dehydrogenase B deficiency. (thermofisher.com)
  • Mutations in either of two genes, PKD1 and PKD2 , cause most forms of ADPKD. (nih.gov)
  • Mutations appear to compromise gene function, and much data implicate a molecular recessive model as responsible for initiating cyst growth. (nih.gov)
  • In relating a list of 86 pathogenic mutations in human tRNAs encoded by mitochondrial genes to the sequences of their mammalian orthologs, we noted that 52 pathogenic mutations were present in normal tRNAs of one or several nonhuman mammals. (nature.com)
  • We found at least five mechanisms of compensation for 32 pathogenic mutations that destroyed a Watson-Crick pair in one of the four tRNA stems: restoration of the affected Watson-Crick interaction (25 cases), strengthening of another pair (4 cases), creation of a new pair (8 cases), changes of multiple interactions in the affected stem (11 cases) and changes involving the interaction between the loop and stem structures (3 cases). (nature.com)
  • Multiple mtDNA deletions and mtDNA depletion (reduced copy number of mtDNA) are secondary changes in mtDNA due to mutations in the mtDNA replication and/or maintenance genes such as POLG, PEO1, ANT1, DGUOK, TYMP [ 72 ]. (springer.com)
  • Previous work shows that in several moth species, resistance to Bt toxin Cry2Ab is associated with mutations in the gene encoding the ATP-binding cassette protein ABCA2. (usda.gov)
  • Here, an ARS scientist at Maricopa, AZ and collaborators show that mutations introduced by CRISPR/Cas9 gene editing in the H. zea gene encoding ABCA2 (HzABCA2) causes resistance to Cry2Ab. (usda.gov)
  • The results demonstrate that HzABCA2 mutations can cause high levels of resistance to Cry2Ab, and that this gene is a leading candidate for monitoring H. zea for Cry2Ab resistance in the field. (usda.gov)
  • The results here show that mutations introduced by CRISPR/Cas9 gene editing in the Helicoverpa zea (corn earworm or bollworm) gene encoding ABCA2 (HzABCA2) can cause resistance to Cry2Ab. (usda.gov)
  • Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. (nih.gov)
  • We propose to elucidate the underlying genomic architecture of EA/TEF and define new genes and conditions associated with EA/TEF by performing whole genome sequencing (WGS) on 150 additional parent child trios to complement the 140 trios awaiting WGS in a clinically well characterized cohort to identify rare de novo mutations and inherited variants. (nih.gov)
  • In aim 2, we will perform analysis of de-novo mutations in coding and non-coding mutation to detect new genes for CAKUT. (nih.gov)
  • More recently, she has studied the interaction between α-synuclein and glucocerebrosidase, the enzyme deficient in Gaucher disease, to explain why mutations in GBA, the gene encoding glucocerebrosidase, is a risk factor for Parkinsonism. (nih.gov)
  • For this project, he will examine how the two proteins function together, how mutations might lead their cooperation to break down, and how this coordination can be rescued. (nih.gov)
  • By understanding the role and function of these calcium channel genes, Dr. Gomez will be able to correlate these mutations with diverse, overlapping neurological and neuropsychiatric symptoms in individuals, thereby informing novel therapies. (nih.gov)
  • This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins. (nih.gov)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (sigmaaldrich.com)
  • Alternative splicing results in multiple transcript variants encoding different isoforms. (cancerindex.org)
  • Alternate splicing results in multiple transcript variants. (thermofisher.com)
  • Multiple alternatively spliced variants, encoding the same protein, have been identified. (thermofisher.com)
  • Recent progress in elucidating the genetic architecture of schizophrenia has highlighted the association of multiple loci and rare variants that may impact susceptibility. (nih.gov)
  • Towards this goal, here we study the roles of GPCR-kinase interacting protein 1 (GIT1), a synaptic scaffolding and signaling protein with damaging coding variants found in schizophrenia patients, as well as copy number variants found in patients with neurodevelopmental disorders. (nih.gov)
  • Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. (antibodies-online.com)
  • Correlation analyses between splice variants of these genes and clinical features of patients showed an association between NOTCH2-Va splice variant and overall survival of patients. (nih.gov)
  • Thus, splice variants of these genes might provide disease markers and targets for novel therapeutics. (nih.gov)
  • Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. (nih.gov)
  • Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (genscript.com)
  • UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the B3GALNT1 gene. (wikipedia.org)
  • Expression of CoFac2 in yeast revealed that the encoded enzyme acts as a fatty acid conjugase converting 18:2(9Z, 12Z) to calendic acid 18:3(8E, 10E, 12Z). (researchgate.net)
  • This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. (antikoerper-online.de)
  • The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. (thermofisher.com)
  • Our study shows, that certain phase I genes and their enzyme activities are increased by epigenetic modification in HepG2 cells with a concomitant reduction of EMT marker gene SNAIL. (cancerindex.org)
  • This gene encodes an enzyme which catalyzes the reversible conversion of lactate and pyruvate, and NAD and NADH, in the glycolytic pathway. (thermofisher.com)
  • The differentially expressed genes (DEGs) of the poor and good prognosis groups were screened using the Linear Models for Microarray Data package, and the prognosis‑related genes were screened using univariate Cox regression analysis. (cancerindex.org)
  • Here, we used proteomic analysis of multiple silk glands and dragline silk fiber to investigate the translation of the differentially expressed genes. (nih.gov)
  • Upon further analysis of sequences within the Angrem52 cDNA downstream of the putative matrix gene, several relatively short ORFs were found to encode peptides with homology to paramyxovirus fusion (F) proteins. (cdc.gov)
  • Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes. (gentaur.com)
  • The CgPKAR gene and its corresponding cDNA have been cloned and sequenced. (scialert.net)
  • Expression of CoFad2 cDNA in yeast (Saccharomyces cerevisiae) indicated it encodes a Delta12 desaturase that introduces a double bond at the 12 position of 16:1(9Z) and 18:1(9Z). (researchgate.net)
  • In this study, a novel cDNA encoding DREB transcription factor, designated SsDREB , was isolated from succulent halophyte Suaeda salsa . (hindawi.com)
  • We now report as viral sequences nucleotide sequences that were previously described to be human genes, named Angrem52 and Angrem104. (cdc.gov)
  • However, these genes appear to encode viral proteins with striking homology to those of paramyxoviruses. (cdc.gov)
  • [5] Syncytin-1 is one of two known syncytin proteins expressed in catarrhini primates (the other being syncytin-2 ) and one of many viral genomes incorporated on multiple occasions over evolutionary time in diverse mammalian species. (wikipedia.org)
  • The primary objective of the Viral Biochemistry Section (VBCS) is to gain insights into innate host defense mechanisms and to decipher the molecular mechanisms governing the functional neutralization of innate restriction factors by HIV- or SIV-encoded proteins. (nih.gov)
  • But a similar defect did not occur when the homologous gene B18R was deleted from a replication-competent strain of VACV, suggesting the expression of compensating proteins that enable viral genome replication. (nih.gov)
  • Replacement of the polyhedrin gene, which encodes a 29-kDa occlusion protein (non-essential for viral replication), with a gene of interest leads to an occlusion negative phenotype which serves as a visual marker to select for recombinant viruses. (ias.ac.in)
  • some of these choices are tightly regulated and the encoded protein isoforms play essential roles in cell growth, development, circadian rhythms, memory etc. (le.ac.uk)
  • In collaboration with Cyril Dominguez and Glenn Burley (Strathclyde), we are interested in the mechanisms by which four-stranded internal structures in the RNA (G4s) affect splicing and, in particular, switch splicing to produce pro-apoptotic isoforms of the genes Bcl-X and Mclk-1. (le.ac.uk)
  • Most human protein-coding genes are expressed as multiple isoforms. (biorxiv.org)
  • While at least one reliable open reading frame (ORF) model has been assigned for every gene, the majority of alternative isoforms remains uncharacterized experimentally. (biorxiv.org)
  • This is primarily due to: i) vast differences of overall levels between different isoforms expressed from common genes, and ii) the difficulty of obtaining contiguous full-length ORF sequences. (biorxiv.org)
  • In short, OCS enables rapid discovery of isoforms from custom-selected genes and will allow mapping of the full set of human isoforms at reasonable cost. (biorxiv.org)
  • This gene encodes an intracellular F-actin binding protein. (cancerindex.org)
  • This protein may be important for intracellular signaling pathways. (thermofisher.com)
  • Clinically, patients exhibit a progressive decline in cognition, memory, and social functioning due to deposition of amyloid β (Aβ) protein and intracellular hyperphosphorylated tau protein. (frontiersin.org)
  • Pathologically, AD is characterized by deposition of extracellular senile plaques, which is composed of amyloid β (Aβ) and intraneuronal neurofibrillary tangles (NFTs), resulting from intracellular aggregates of hyperphosphorylated tau protein detected in the brain ( 2 ). (frontiersin.org)
  • Instead, they act as molecular adaptors to either redirect the normal function of the host factors for virus-specific purposes or to inhibit their normal physiological function by targeting proteins for degradation or by altering their intracellular localization. (nih.gov)
  • Human B3GALNT1 genome location and B3GALNT1 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • A) Gene positions of a generic paramyxovirus and predicted genome position of Angrem104 (top), the phosphoprotein (P) gene, Angrem52 (bottom), the matrix protein. (cdc.gov)
  • In the present study, two messenger ribonucleic acid sequencing datasets of patients with AML were downloaded from the Cancer Genome Atlas and Gene Expression Omnibus databases. (cancerindex.org)
  • The ENCODE project is the largest genetic breakthrough since the sequencing of the human genome. (medicaldaily.com)
  • To identify proteins that might collaborate with the dTAF5 homolog can to regulate expression of specific target genes in Drosophila spermatocytes, the expression and function of other TAF II homologs in the Drosophila genome were investigated (Hiller, 2004). (sdbonline.org)
  • The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. (springer.com)
  • To date, mitochondrial proteomics analysis reveals that in addition to the 13 proteins encoded by the mitochondrial genome, around 1500 proteins [ 50 ] are linked to various mitochondrial functions and so far more than 200 genes have been implicated in the development of human disease [ 40 ]. (springer.com)
  • The mitochondrial genome consists of multiple copies of 16,569 bp, double stranded mitochondrial DNA (mtDNA) molecules and located adjacent to the OXPHOS system in the matrix. (springer.com)
  • Funded by the National Human Genome Research Institute (NHGRI) within the National Institutes of Health (NIH), the consortium seeks to significantly increase the number of known single-gene disorders. (washington.edu)
  • Even though the human genome was mapped more than 20 years ago, there are still many genes whose function or importance are yet to be discovered. (washington.edu)
  • This method sequences all the regions of the genome responsible for encoding proteins. (washington.edu)
  • We discovered that compensating genes were present in a ~27-kb fragment derived from the left end of the VACV genome. (nih.gov)
  • Genome-wide association study of gene-disease association. (genscript.com)
  • Under native conditions, both in resting and proliferating cells, over 95% of cellular NPM protein exists as an oligomer. (haematologica.org)
  • Fibroblast growth factors (FGFs) comprise a family of at least eighteen structurally related proteins that are involved in a multitude of physiological and pathological cellular processes, including cell growth, differentiation, angiogenesis, wound healing and tumorgenesis. (rndsystems.com)
  • Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. (novusbio.com)
  • We are pursuing several parallel lines of inquiry regarding the relationship between PKD proteins, cellular metabolism, matrix, and planar cell polarity pathways. (nih.gov)
  • This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. (genetex.com)
  • Dr. Lee is also particularly interested in the effect of metal ions and the influence of different cellular membrane compartments on protein misfolding and aggregation. (nih.gov)
  • Ultimately, Dr. Lee wants to understand the mechanisms of amyloid aggregation and function at a detailed level in the context of the multiple cellular compartments with which they interact. (nih.gov)
  • Given that the macula and fovea are morphologically and molecularly distinct tissues, this creates hurdles to pre-clinical studies for gene-directed and cellular replacement therapies. (nih.gov)
  • Modeling novel associations of ocular syndromes: novel candidate human disease genes are validated in zebrafish, mouse, and in vitro using CRISPR/Cas9 gene editing and developmental, molecular, and cellular biology investigations to elucidate disease mechanisms. (nih.gov)
  • We are currently modeling several new human disease genes in animal and cellular models. (nih.gov)
  • Molecular and cellular responses to abiotic stresses involve signal perception, transduction of the signal to the cytoplasm and nucleus, alteration of gene expression and, finally, metabolic changes that lead to stress tolerance [ 4 ]. (hindawi.com)
  • The induction of apoptosis upon infection results from a complex interaction of parasite proteins with cellular host proteins. (ias.ac.in)
  • The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. (sigmaaldrich.com)
  • NPM is over-expressed in solid tumors of diverse histological origin 6 or is involved in tumor progression 7 - 9 In several hematologic malignancies, the NPM1 locus is lost 10 or translocated leading to the formation of oncogenic fusion proteins. (haematologica.org)
  • Aberrantly spliced genes included a number of oncogenes, tumor suppressor genes, and genes involved in regulation of apoptosis, cell cycle, and cell differentiation. (nih.gov)
  • Genes encoding the regulatory subunits of PKA have been isolated and cloned from various filamentous fungi such as Ustilago maydis , Neurospora crassa and C. lagenarium (Gold et al . (scialert.net)
  • Only thirty-seven genes (22 transfer RNAs, 2 ribosomal RNAs and 13 polypeptides that form structural subunits of OXPHOS system) [ 86 ] are encoded by mtDNA. (springer.com)
  • The remaining mitochondrial proteins, including the majority of respiratory chain subunits (79 out of 92), assembly factors of the respiratory chain, those involved in maintenance and expression of mtDNA, mtDNA transcription and translation, and control the mitochondrial dynamics are nuclear encoded [ 16 ], synthesised in the cytosol and imported to the mitochondria [ 51 ]. (springer.com)
  • This gene encodes one of seven subunits of the human Arp2/3 protein complex. (genscript.com)
  • A cleavage product of Polycystin-1 is a mitochondrial matrix protein that affects mitochondria morphology and function when heterologously expressed. (nih.gov)
  • It is one of the most common groups of genetic disease and can be caused by mutation in either mitochondrial DNA or nuclear genes that directly or indirectly interfere with the mitochondrial respiratory chain function. (springer.com)
  • 3. SUMOylation of the farnesoid X receptor (FXR) regulates the expression of FXR target genes. (nih.gov)
  • 18. Direct methylation of FXR by Set7/9, a lysine methyltransferase, regulates the expression of FXR target genes. (nih.gov)
  • This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. (genetex.com)
  • A BLAST search restricted to mammalian protein sequences was performed through the NCBI Web page ( http://www.ncbi.nlm.nih.gov/BLAST ) by using the Nipah virus matrix protein sequence as the query. (cdc.gov)
  • This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. (nih.gov)
  • b ) Selected nonprimate mammalian gene encoding tRNA Leu (UUR) . (nature.com)
  • Signal transduction pathways are crucial in regulating fungal morphogenetic events and the cAMP-dependent protein kinase A (PKA) pathway is known as one of the major pathways mediating most of the morphological effects in pathogenic fungi (Lengeler et al . (scialert.net)
  • A total of eight main Kyoto Encyclopedia of Genes and Genomes pathways were identified, the top three of which were hematopoietic cell lineage, focal adhesion, and regulation of actin cytoskeleton. (cancerindex.org)
  • Further validation of three of the identified proteins provided new insights into specific pathways and processes related to plant immunity where AtNHR2A and AtNHR2B participate. (frontiersin.org)
  • We believe this information will improve genetic diagnostic methods and provide more accurate clinical prognostic information to guide clinic decisions and improve outcomes and identify genes and pathways causing EA/TEF and other birth defect and neurodevelopmental disorders. (nih.gov)
  • While it is now clear that cell-type-specific TAF homologs such as can and mTAF4b can play important roles in tissue-specific gene expression, the mechanisms by which they function at specific promoters are not understood. (sdbonline.org)
  • Dr. Saphire systematically analyzes the structures and functions of each protein encodes by the virus to gain fundamental insights into the biology of entry, immune evasion, and assembly, and to decipher the collaborative roles of these proteins in pathogenesis. (nih.gov)
  • We have made important contributions to identifying the roles of transcription, RNA folding and splice site sequences and the effects of regulatory proteins on the binding of core splicing components. (le.ac.uk)
  • Poxviruses generally encode multiple ankyrin-like proteins with incompletely understood roles in host interactions. (nih.gov)
  • In addition, multiple research reports indicated that the genes on the CBF/DREB family play very important roles in regulating abiotic stress via ABA-independent/dependent pathway [ 8 - 10 ]. (hindawi.com)
  • It suggested that CBF/DREB plays distinctive roles in plant response to stress [ 11 ] and that there might also be a crosstalk between drought and cold responsive genes with a DRE element [ 6 ]. (hindawi.com)
  • MEN1 encodes a transcriptional regulator protein, menin. (medscape.com)
  • The MEN1 gene encodes a protein known as Menin, which is located predominantly in the nucleus. (embl.de)
  • The NPM molecule contains distinct domains 17 that account for its multiple biochemical functions ( Figure 1A ). (haematologica.org)
  • Four distinct genes encoding closely related FGF receptors, FGF R1 - 4, are known. (rndsystems.com)
  • Most of our prior coordinating center work has been in the study of common, complex disease in population-based studies - which is very distinct from understanding the genetic causes of rare, single-gene disorders in patients and families," said Sarah Nelson, GAC research scientist and scientific contact in the DCC's project management team. (washington.edu)
  • The initiation of transcription by RNA polymerase II (PolII) remains a critical control point for regulation of differential gene expression during development and the differentiation of specialized cell types. (sdbonline.org)
  • and how the Ebola matrix protein assembles into one structure to bud new virions and into a different conformation to bind RNA and control transcription inside infected cells. (nih.gov)
  • The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. (cancerindex.org)
  • As proof-of-concept, we show that an OCS pipeline focused on genes coding for transcription factors increases isoform detection by an order of magnitude, compared to unenriched sample. (biorxiv.org)
  • The miracle of transcription regulation, as we have seen in another recent OP, is at the center of multiple levels of control involved in that achievement. (uncommondescent.com)
  • The encoded protein forms a heterodimer with the related transcription factor MAX. (genetex.com)
  • From NCBI Gene: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. (nih.gov)
  • Yeast one-hybrid assays showed that SsDREB protein specifically binds to the DRE sequence and could activate the expression of reporter genes in yeast, suggesting that the SsDREB protein was a CBF/DREB transcription factor. (hindawi.com)
  • These data suggest that the SsDREB transcription factor is involved in the regulation of salt stress tolerance in tobacco by the activation of different downstream gene expression. (hindawi.com)
  • Numerous abiotic stress-related genes and transcription factors (TFs) have been isolated from different plant species and overexpressed in homologous and heterologous systems to engineer stress tolerance [ 5 ]. (hindawi.com)
  • The Dehydration-responsive element-binding proteins (DREBs) are members of the APETALA2/ethylene-responsive element-binding factor (AP2/ERF) family of transcription factors in the promoters of stress-inducible genes [ 6 ]. (hindawi.com)
  • The baculovirus expression system employing Autagrapha californica nuclear polyhidrosis virus and Spodoptera frugiperda insect cells in culture has proved very popular for high level expression of heterologous genes: In this system, transcription of the foreign gene is usually driven by the hyperactive and temporally regulated polyhedrin gene promoter. (ias.ac.in)
  • Adding a carrier protein enhances protein stability, increases shelf-life, and allows the recombinant protein to be stored at a more dilute concentration. (rndsystems.com)
  • In general, we advise purchasing the recombinant protein with BSA for use in cell or tissue culture, or as an ELISA standard. (rndsystems.com)
  • Quality control test: Antibody Reactive Against Recombinant Protein. (novusbio.com)
  • ANXA2 (AAH66955, 19 a.a. ~ 357 a.a) full-length recombinant protein with GST tag. (novusbio.com)
  • Antibody reactivity against cell lysate and recombinant protein for WB. (novusbio.com)
  • Human recombinant protein fragment corresponding to amino acids 323-547 of human DDX56 (NP_061955) produced in E.coli. (origene.com)
  • All four genes for FGF Rs encode proteins with an N-terminal signal peptide, three immunoglobulin (Ig)-like domains, an acid-box region containing a run of acidic residues between the IgI and IgII domains, a transmembrane domain and the split tyrosine-kinase domain. (rndsystems.com)
  • Extracellular glucose level regulates dependence on GRP78 for cell surface localization of multipass transmembrane proteins in HeLa cells. (researchmap.jp)
  • The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. (prosci-inc.com)
  • This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). (gentaur.com)
  • More sophisticated methods to determine protein activity or combinations of different proteins could be helpful in molecular diagnosis and, ultimately, oncoproteomic profiling. (medscape.com)
  • The availability of specific antibodies and molecular techniques for the detection of NPM1 gene alterations has an enormous impact in the biological study diagnosis, prognostic stratification, and monitoring of minimal residual disease of various lymphomas and leukemias. (haematologica.org)
  • The discovery of NPM1 gene alterations also represents the rationale basis for development of molecular targeted drugs. (haematologica.org)
  • After postdoctoral research in Germany on foot-and-mouth disease protein processing and maturation, he joined the Laboratory of Molecular Microbiology (LMM) in 1986 as a postdoctoral fellow to work on molecular mechanisms of HIV-1 replication. (nih.gov)
  • The molecular sequence of this clone aligns with the gene accession number as a point of reference only. (origene.com)
  • To explore further the molecular mechanisms of transplacental arsenic hepatocarcinogenesis, we conducted a second arsenic transplacental carcinogenesis study and used a genomewide microarray to profile arsenic-induced aberrant gene expression more extensively. (nih.gov)
  • Though gene therapy and other precision medicine therapeutics are very promising, they require a thorough understanding of the molecular cause and mechanism of disease. (washington.edu)
  • The Laboratory of Protein Conformation and Dynamics integrates complementary biophysical and biochemical techniques to understand the molecular mechanisms of amyloid formation. (nih.gov)
  • The combination of both these dimensions enables separation and characterization of large numbers of proteins. (medscape.com)
  • Data suggest that the gene for MEN-1, called MENIN, is also involved in the pathogenesis of at least one third of sporadic neuroendocrine tumors (NETs), including gastrinomas. (medscape.com)
  • cAMP is produced from ATP by adenylate cyclase and acts as a secondary messenger to regulate the activity of the cAMP-dependent protein kinase A (PKA) (Borges-Walmsley and Walmsley, 2000). (scialert.net)
  • The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. (cancerindex.org)
  • It is proposed that the products of the five Drosophila genes encoding testis TAF homologs collaborate in an alternative TAF-containing protein complex to regulate a testis-specific gene expression program in primary spermatocytes required for terminal differentiation of male germ cells (Hiller, 2004). (sdbonline.org)
  • One key example, given their potential etiopathogenic and therapeutic relevance, is a set of genes that encode proteins that regulate excitatory glutamatergic synapses in brain. (nih.gov)
  • CaMDR1 encodes a major facilitator superfamily (MFS) protein in Candida albicans whose expression has been linked to azole resistance and which is frequently encountered in this human pathogenic yeast. (ias.ac.in)
  • We find 48 proteins encoded by the differentially expressed transcripts in L. hesperus major ampullate, minor ampullate, and tubuliform silk glands and detect 17 SST encoded proteins in major ampullate silk fibers. (nih.gov)
  • Our results suggest that NOTCH2 and FLT3 mis-splicing is a common characteristic of AML and has the potential to generate transcripts encoding proteins with altered function. (nih.gov)
  • Gastrinomas may be sporadic or may be associated with multiple endocrine neoplasia type 1 (MEN-1). (medscape.com)
  • PKD1 and PKD2 encode components of a receptor-channel complex that likely has ciliary and non-ciliary functions. (nih.gov)
  • The isolation and characterization of a gene encoding the regulatory subunit of cAMP-dependent protein kinase ( CgPKAR ) of the fungal plant pathogen Colletotrichum gloeosporioides is described in this research. (scialert.net)
  • The gene encodes a protein comprising of 391 amino acids and showing 90% identity to Colletotrichum lagenarium protein kinase A regulatory subunit. (scialert.net)
  • This gene encodes a dual functional inositol kinase. (thermofisher.com)
  • This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylgalactosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). (wikipedia.org)
  • Moreover, the comprehensive analysis of the AtNHR2A- and AtNHR2B-interacting proteins using published empirical information revealed that the functions of AtNHR2A and AtNHR2B are not limited to plant immunity but encompass other biological processes. (frontiersin.org)
  • Because the detailed functions of AtNHR2A and AtNHR2B are still unknown, the main objective of this work is to gain insight into their function by investigating their respective protein-protein interaction network (interactome). (frontiersin.org)
  • Here, we review the structure and functions of NPM, as well as the biological, clinical and pathological features of human hematologic malignancies with NPM1 gene alterations. (haematologica.org)
  • Major and minor ampullate glands have the highest overlap of identified proteins, consistent with their shared, distinctive ampullate shape and the overlapping functions of major and minor ampullate silks. (nih.gov)
  • Each protein is critical-many are obligated to perform multiple functions and some rearrange their structures to achieve those new functions. (nih.gov)
  • This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. (novusbio.com)
  • Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. (genscript.com)
  • The A-1 subgroup, which includes the DREB1/CBF- (C-repeat binding factor-) like genes, are mainly induced by low temperature and activate the expression of many cold stress-responsive genes, whereas the A-2 subgroup, which is comprised of the DREB2 genes, mainly functions in osmotic stress [ 7 ]. (hindawi.com)
  • 20 Through its N-terminal hydrophobic domain, NPM also exerts a chaperone activity, preventing protein aggregation in the nucleolus, favoring histone and nucleosome assembly, 21 - 23 and increasing acetylation-dependent transcriptional activity. (haematologica.org)
  • Involved in positive regulation of protein localization to cell cortex. (nih.gov)
  • The C5 and M2 proteins are not homologous to each other or to the B18/186 protein, nor do they have ankyrin-like motifs. (nih.gov)
  • DREB2 homologous genes have been isolated from a variety of species [ 12 ]. (hindawi.com)
  • There is a strong correlation between apoptosis and the host protein translation machinery: the pathogen makes all possible efforts to modify this process so as to inhibit cell suicide and ensure that it can survive and, in some cases, establish latent infection. (ias.ac.in)
  • Syncytin-1 is also implicated in a number of neurological pathologies, most notably, multiple sclerosis , as an immunogen . (wikipedia.org)
  • The nht, mia, sa and rye proteins contain histone fold domain dimerization motifs. (sdbonline.org)
  • 1. Histone H3K4 trimethylation by MLL3 as part of ASCOM complex is critical for NR activation of bile acid transporter genes and is downregulated in cholestasis. (nih.gov)
  • This protein, called Angrem52 (for ang iotensin II-induced, re nal m esangial cell gene 52), displays 53% amino acid identity and 73% amino acid similarity over 337 amino acids (aa) to the Nipah virus matrix protein (data not shown). (cdc.gov)
  • 14 B23.1, the prevalent isoform in all tissues, 15 contains 294 amino acids, 16 whereas B23.2, a truncated protein, lacks the last 35 C-terminal amino acids of B23.1 and is expressed at very low levels. (haematologica.org)
  • Recombinant fusion protein containing a sequence corresponding to amino acids 1-334 of human LDHB. (thermofisher.com)
  • To determine the critical features guiding amyloid formation, Dr. Lee is characterizing how individual amino acid residues affect protein-protein interaction during the amyloid assembly process. (nih.gov)
  • Recombinant fusion protein containing a sequence corresponding to amino acids 200-450 of human FER (NP_005237.2). (prosci-inc.com)
  • Protein 4.1G binds to a unique motif within the Fc gamma RI cytoplasmic tail. (nih.gov)
  • Biotinylated Recombinant Human FGFR2 alpha (IIIb) Fc Chimera Avi-tag (Catalog # AVI663) binds Recombinant Human FGF acidic/FGF1 (aa 16-155) Protein (Catalog # 232-FA ) with an ED 50 of 0.0500-0.500 μg/mL. (rndsystems.com)
  • Suppression of adenylyl cyclase-mediated cAMP production by plasma membrane associated cytoskeletal protein 4.1G. Goto T, et al . (nih.gov)
  • The nht and rye proteins interact structurally when co-expressed in bacteria, similarly to their generally expressed homologs TAF4 and TAF12, which heterodimerize. (sdbonline.org)
  • This will involve the functional characterization of HIV-2 accessory genes isolated form primary HIV-2 isolates in primary human cells. (nih.gov)
  • For example, an alternate form of TAF4 (TAF4b -- formerly hTAF II 105) highly expressed in granulosa cells was found to associate with TBP and TAF1 in a large, TFIID-like protein complex in ovarian extracts (Freiman, 2001) and to be required for normal follicular development and for expression of a number of genes in developing ovarian follicles in mice (Hiller, 2004 and references therein). (sdbonline.org)
  • A critical next step is to delineate specifically how such genetic variation impacts synaptic plasticity and to determine if and how the encoded proteins interact biochemically with one another to control cognitive function in a convergent manner. (nih.gov)
  • Proteomics is the large-scale characterization and measurement of the entire population of proteins within a biological system. (medscape.com)
  • Using global quantitative phospho-proteomics, we revealed that GIT1 deletion in brain perturbs specific networks of GIT1-interacting synaptic proteins. (nih.gov)
  • The dramatic diversity of splicing patterns is achieved by weakening the standard signals for splicing and relying on the recognition of a very large number of short sequence motifs that are recognised by numerous activator or repressor proteins. (le.ac.uk)
  • The observed proteins include known silk-related proteins, but most are uncharacterized, with no annotation. (nih.gov)
  • Figure 1: Multiple alignments of tRNAs with secondary structure annotation. (nature.com)
  • The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. (nih.gov)
  • To overcome this, we pioneered (in collaboration with Clive Bagshaw, Dmitry Cherny and Andrew Hudson) the use of single molecule methods in crude extracts, and we have used these to look at the numbers of molecules of particular proteins bound to each molecule of RNA and establish how this affects activation or repression. (le.ac.uk)
  • We are currently developing methods for monitoring the flexibility and dynamics of these complexes at the single molecule level, since we suspect that these overall properties of the complex integrate the inputs of the many individual bound proteins. (le.ac.uk)
  • The encoded protein is involved in acrosome formation during spermatid development. (antibodies-online.com)