• SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al. (wikipedia.org)
  • TWIST belongs to class B bHLH proteins which are known to form stable heterodimers with members of class A bHLH transcription factors including gene products of E12 and E47, respectively. (uni-marburg.de)
  • 1993). Previous studies have shown that neurexophilins are secreted proteins of small molecular weight with structural features that resemble those of neuropeptides, suggesting a possible signaling function mediated by alpha-neurexins (Petrenko et al. (uni-goettingen.de)
  • In order to further study the function of the VHL gene, additional studies of VHL-associated proteins have been carried out. (nih.gov)
  • Cell membrane proteins can trigger intracellular signal transduction and regulate cell proliferation, differentiation and survival. (cgu.edu.tw)
  • To study the role of these potential NES sequences in TRα1 nuclear shuttling, we performed transient transfection of mCherry-tagged fusion proteins in HeLa cells followed by scoring of the intracellular distribution by fluorescence microscopy. (wm.edu)
  • Localization studies, utilizing GFP-OsGRXS17 fusion proteins, indicated that OsGRXS17 resides in both the cytoplasm and the nuclear envelope. (mcmaster.ca)
  • EN] RNA-binding proteins play a central role in post-transcriptional mechanisms that control gene expression. (upv.es)
  • Take a look at show a novel function to the Hedgehog (Hh) transcription factor Glioma associated proteins One (GLI1) throughout regulation of crucial Fanconi anemia (FA) gene, FANCD2 within OC cells. (cd31-signal.com)
  • Characterisation of a cluster of genes encoding Theileria annulata AT hook DNA-binding proteins and evidence for localisation to the host cell nucleus. (lookformedical.com)
  • Molecular characterization of Arabidopsis PHO80-like proteins, a novel class of CDKA;1-interacting cyclins. (boku.ac.at)
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • hPSC-enriched essential genes mainly encode transcription factors and proteins related to cell-cycle and DNA-repair, revealing that a quarter of the nuclear factors are essential for normal growth. (nature.com)
  • A fuller picture of the WNT signaling pathway surfaced when T-cell aspect/lymphocyte enhancer aspect (TCF/LEF) transcription elements had been defined as WNT nuclear effectors 9, 10 and Frizzleds (FZDs) had been defined as WNT obligate receptors 11, working as well as co-receptors, such as for example low-density lipoprotein-receptor-related proteins (LRPs)/Arrow 12. (icsv20.org)
  • The initial case for the participation of WNT signaling in individual cancers was produced when the hereditary cancers symptoms termed familial adenomatous polyposis (FAP) gene item, adenomatous polyposis coli (APC) 13, 14, was discovered to connect to -catenin 15, 16, and was afterwards shown to enjoy a critical function in managing -catenin proteins stability. (icsv20.org)
  • Generally in most mammalian genomes, the WNT family members is normally made up of 19 associates that are seen as a an extremely conserved cysteine-rich secreted glycoproteins, which present the specialized challenges in effective creation, biochemical characterization and structural evaluation of WNT proteins 28, however the structure from the Xenopus WNT8 proteins as destined to Frizzled (FZD) was lately resolved 29. (icsv20.org)
  • The lipid the different parts of WNTs are necessary for effective signaling, including WNT proteins secretion 30, 31. (icsv20.org)
  • Programmable DNA binding proteins have emerged as an exciting platform for engineering synthetic transcription factors for modulating endogenous gene expression 5 - 11 . (cdc.gov)
  • Specific mutations on those points molecular evolution of specific genes of influenza viruses, may enable an avian influenza virus to become a human comprehensive comparisons among the nucleotide virus. (cdc.gov)
  • Molecular characterization and gene expression of lhcb5 gene encoding CP26 in the light-harvesting complex II of Chlamydomonas reinhardtii. (bio.net)
  • A complex interaction between the cleavage and polyadenylation molecular complex and cis -elements determine the polyadenylation site, which may result in the choice of non-canonical sites, resulting in alternative polyadenylation events, involved in the regulation of more than 80% of the genes expressed in plants. (frontiersin.org)
  • First, molecular events in T2DM pathogenesis have been examined directly by testing the role of sequence variants of specific candidate genes. (scialert.net)
  • Accordingly, the subcellular localization of NLS1 and NLS2 in TWIST protein was investigated in U2-OS cells following co-transfection with E12. (uni-marburg.de)
  • It really is plausible which the subcellular localization of CAPN3 determines its particular mobile function, which mutations make a difference some of those features straight or indirectly (1). (exposed-skin-care.net)
  • 2002): Regulated nuclear transport. (boku.ac.at)
  • explosion further, consider that a fictitious small genome with 2002) More recently and more dramatically, the potential for 260 genes would host the same number of combinations as cell state conversions is exemplified by the reprogramming of the number of atoms in the visible universe! (lu.se)
  • 2002. The accidental sinking of the nuclear submarine, the Kursk: monitoring of radioactivity and the preliminary assessment of the potential impact of radioactive releases. (cdc.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • The present study was thus undertaken to determine how TWIST1 gene mutations affect protein function. (uni-marburg.de)
  • INTRODUCTION: Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1 , BRCA2 , MLH1 , MSH2 , TP53 , and PTEN , is becoming an increasingly important part of clinical practice. (xenbase.org)
  • Interpretation of truncating mutations, gene rearrangements, and obvious splice junction mutations, is generally straightforward. (xenbase.org)
  • An improved method for determining codon variability in a gene and its application to the rate of fixation of mutations in evolution. (xenbase.org)
  • Understanding missense mutations in the BRCA1 gene: an evolutionary approach. (xenbase.org)
  • Germline mutations in the VHL gene predispose individuals to a variety of tumors, including renal carcinoma, CNS hemangioblastoma, islet cell tumors of the pancreas, and pheochromocytoma. (nih.gov)
  • We have recently developed an improved method of detecting germline mutations in the von Hippel-Lindau disease tumor suppressor gene. (nih.gov)
  • Increased curiosity about CAPN3 was highly stimulated when it had been reported that mutations in its gene bring about limb-girdle muscular dystrophy (LGMD) type 2A, seen as a the continuous atrophy of hip and make muscle tissues (LGMD2A, or calpainopathy) (21). (exposed-skin-care.net)
  • As opposed to other styles of muscles dystrophy, where mutations take place in genes encoding structural protein, calpainopathy was the initial reported kind of dystrophy predetermined by mutations within a gene encoding a proteolytic enzyme. (exposed-skin-care.net)
  • You can find over 440 noted mutations within the calpain 3 gene up to now, included in this 212 (50%) are missense mutations, a lot of which alter its catalytic activity (22). (exposed-skin-care.net)
  • Furthermore, the deleterious aftereffect of missense mutations can occur not merely from immediate disruption of CAPN3 function(s), but additionally from disruption from the protein's structural integrity, that could affect its intra or intermolecular protein lead and interactions to decreased stability or altered localization. (exposed-skin-care.net)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • In the next years, research of genetics delineating the romantic relationships among portion polarity mutations mapped out the primary from the WNT/Wg indication transduction cascade by determining Porcupine (PORC), disheveled (DVL), armadillo (-catenin), and zeste-white 3/glycogen synthase kinase 3 (GSK3) genes 5-8. (icsv20.org)
  • Mutations in some genes cause rare forms of T2DM, giving additional support for the genetic roles in the aetiology of the disease. (scialert.net)
  • [ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
  • Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)
  • Patients with truncation mutations had high frequency of bilateral Wilms tumor compared with patients with missense mutations (52% vs. 17%, respectively), with a higher percentage of bilateral tumors in patients with truncations that occurred in the 5' half of the WT1 gene. (medscape.com)
  • Such mutations result in a WT1 protein that lacks a functional nuclear localization signal. (medscape.com)
  • Although pheochromocytomas have classically been associated with 3 syndromes-von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN 2), and neurofibromatosis type 1 (NF1)-there are now 10 genes that have been identified as sites of mutations leading to these tumors. (medscape.com)
  • Glutaredoxins (GRXs) modulate redox-dependent signaling pathways and have emerged as key mediators in plant responses to environmental stimuli. (mcmaster.ca)
  • HIPKs are regulators of various signaling pathways and involved in the pathology of cancer, chronic fibrosis, diabetes, and multiple neurodegenerative diseases. (nature.com)
  • Traditionally, WNT signaling is usually classified into two large groups: the canonical WNT (or -catenin-dependent) and non-canonical WNT (or -catenin-independent) pathways. (icsv20.org)
  • First, I focused on functional characterization of the NLS1 and NLS2 domains as potential nuclear localization signals in TWIST. (uni-marburg.de)
  • In particular, TWIST NLS1 altered at amino acid position K38R was found to be retained in the cytoplasm of transiently transfected U2-OS cells, suggesting that NLS1 is functional and essential for the nuclear transport of TWIST. (uni-marburg.de)
  • Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. (xenbase.org)
  • PB2 genes (viral ribonucleoproteins [RNPs]) and are most- encoded protein sequences have not been extensively ly located in the functional domains related to RNP-RNP reported. (cdc.gov)
  • Here, we carried out the functional characterisation of the filamentous fungus-specific RNA-binding protein RBP35 required for full virulence and development in the rice blast fungus. (upv.es)
  • The results highlight the importance of mid-SUNs as functional components of the ER and outer nuclear membrane. (brookes.ac.uk)
  • Our results would lay an important foundation for functional and evolutionary analysis of Cq bZIPs , and provide promising candidate genes for further investigation in tissue specificity and their functional involvement in quinoa's resistance to salt stress. (biomedcentral.com)
  • With this we could allude to an intrinsic bias of essentiality across cellular compartments, uncover two opposing roles for tumour suppressor genes and link autosomal-recessive disorders with growth-retardation phenotypes to early embryogenesis. (nature.com)
  • Experimentally confirmed target genes were identified for the 73 diagnostic miRNAs, from which proliferation genes were selected from CRISPR-Cas9/RNA interference (RNAi) screening assays. (cdc.gov)
  • The candidate gene approach focuses on the search for an association between T2DM and sequence variants in or near biologically defined candidate genes which have been chosen based on their known physiological function. (scialert.net)
  • Specifically the effects of various NLS substitutions in TWIST on cellular localization was assayed by immunoflourescence assay. (uni-marburg.de)
  • We used the in vitro / in vivo dual expression system plasmid, pIVEX, to express Danio rerio pol β ( Danio pol β) for biochemical characterization. (biomedcentral.com)
  • The nuclear localization sequences of the BRCA1 protein interact with the importin-alpha subunit of the nuclear transport signal receptor. (xenbase.org)
  • The availability of multiple PAS in the same 3' regulatory region enables the inclusion or exclusion of 3' untranslated region (3'UTR) sequences, resulting in transcripts that may differ in particularities involving post-transcriptional processes such as stability, transport and translation ( Mayr, 2016 ), and even protein localization ( Berkovits and Mayr, 2015 ). (frontiersin.org)
  • Two distinct nuclear localization signals in mammalian MSL1 regulate its function. (nih.gov)
  • Different subcellular compartments are suggested to be linked through complex retrograde signaling networks to regulate cellular metal homeostasis. (frontiersin.org)
  • Although a small number of 3' regulatory regions have been identified and validated so far, many studies have shown that plant 3' regulatory regions have a higher potential to regulate gene expression in plants compared to widely used 3' regulatory regions, such as NOS and OCS from Agrobacterium tumefaciens and 35S from cauliflower mosaic virus. (frontiersin.org)
  • Splicing factor such as Serine Arginine rich splicing factor (SRSF1) [ 16 ] regulate HIV-1 transcription whereas, Small nuclear RNAs [ 17 ] inhibit HIV-1 replication through excessive RNA Splicing. (biomedcentral.com)
  • A fundamental challenge in this domain is the reconstruction of a protein-protein subnetwork that underlies a process of interest from a genome-wide screen of associated genes. (biomedcentral.com)
  • Using our recently established haploid human pluripotent stem cells (hPSCs), we generated a genome-wide loss-of-function library targeting 18,166 protein-coding genes to define the essential genes in hPSCs. (nature.com)
  • Fig. 1: Establishment and characterization of a genome-wide CRISPR-Cas9 screen in haploid hPSCs. (nature.com)
  • To overcome the shortcomings of the candidate gene studies, investigators have applied a genome-wide linkage scan strategy in which regularly spaced markers are traced in families and sibling pairs for segregation with T2DM. (scialert.net)
  • Predictive identification of exonic splicing enhancers in human genes. (xenbase.org)
  • Our screen also led to the identification of growth-restricting genes whose loss of function provides a growth advantage to hPSCs, highlighting the role of the P53-mTOR pathway in this context. (nature.com)
  • Fig. 3: Identification and characterization of the hESC essentialome. (nature.com)
  • The Emerging Field of Medicines Authentication by Nuclear Quadrupole Resonance Spectroscopy (Counterfeit Medicines Volume II: Detection, Identification and Analysis, ILM Publications, 2013). (lu.se)
  • The normal versions of genes in the first group are called proto-oncogenes. (cancerquest.org)
  • The mutated or otherwise damaged versions of these genes are called oncogenes. (cancerquest.org)
  • In normal cells, both internal and external signals control the activity of the oncogenes. (cancerquest.org)
  • We have two copies of each gene and for oncogenes, a single defective copy is enough to cause a cell to divide. (cancerquest.org)
  • Numerous genes have been identified as proto-oncogenes. (cancerquest.org)
  • As stated in the introduction to this section, the defective versions of these genes, known as oncogenes, can cause a cell to divide in an unregulated manner. (cancerquest.org)
  • Reports discussing cMYC protein expression in thyroid carcinomas are limited, and controversies exist pertaining to cMYC expression patterns (nuclear versus cytoplasmic immunoreactivity) in these tumors. (biomedcentral.com)
  • The mutant cytoplasmic WT1 protein is thought to sequester some of the wild-type WT1 protein in the cytoplasm, resulting in a reduced amount of nuclear WT1. (medscape.com)
  • At the cellular level, the actions of glucocorticoids are mediated by a 94-kd protein, the glucocorticoid receptor (GR). The human (h) GR belongs to the steroid/thyroid/retinoic acid superfamily of nuclear receptors and functions as a ligand-dependent transcription factor that regulates the expression of glucocorticoid-responsive genes positively or negatively. (medscape.com)
  • A) Schematic representation of the structure of the human glucocorticoid receptor (hGR) gene. (medscape.com)
  • Alternative splicing of the hGR gene in exon 9 generates 2 highly homologous receptor isoforms, termed α and β. (medscape.com)
  • Thyroid hormone receptor α1 (TRα1) is a nuclear receptor that is functionally dependent on its nucleocytoplasmic shuttling for gene regulation. (wm.edu)
  • Some sequence motifs responsible for import and export of the receptor have been previously identified, but its full range of nuclear export signal (NES) motifs has not been fully defined. (wm.edu)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • Remarkably, the ZIKKPE243 strain induced significantly higher levels of the anti-inflammatory nuclear receptor-PPAR-γ. (bvsalud.org)
  • Non-canonical WNT signaling can be initiated by WNT conversation with Frizzled receptors, or RYK and ROR receptor tyrosine kinases, and regulates small GTPases (such as RhoA, Rac and Cdc42) in DVL-dependent manner. (icsv20.org)
  • Data show that complete removal of paternally expressed gene 3 (PEG3) resulted in up-regulation of male-specific lethal 1 (Msl1) and male-specific lethal 3 (Msl3). (nih.gov)
  • Ultimately, these multiple export signals emphasize the meticulous balance between nuclear import and export of TRα1 for its crucial role in gene regulation and metabolism. (wm.edu)
  • 1999): Being at the right place at the right time: the role of nuclear transport in dynamic transcriptional regulation in yeast. (boku.ac.at)
  • Achieving systematic, genome-scale perturbations within intact biological systems is important for elucidating gene function and epigenetic regulation. (cdc.gov)
  • Infection of bovine leukocytes by the apicomplexan parasite Theileria annulata results in alteration of host cell gene expression and stimulation of host cell proliferation. (lookformedical.com)
  • Biologically, the canonical WNT/-catenin signaling pathway usually plays crucial functions in regulating cell fate, proliferation and survival, while the non-canonical WNT signaling is usually more associated with differentiation, cell polarity and migration 25-27. (icsv20.org)
  • Immunoblots identified two RBP35 protein isoforms that show a steady-state nuclear localisation and bind RNA in vitro. (upv.es)
  • Additionally, to understand the role of the TWIST NLS2 in nuclear localization, amino acid at positions 73, 76 and 77 were substituted in this motif. (uni-marburg.de)
  • Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. (xenbase.org)
  • The UL33 gene of herpes simplex virus type 1 (HSV-1) encodes a 130 amino acid (aa) protein that is essential for the cleavage of concatemeric viral DNA into monomeric genomes and their packaging into preformed capsids. (gla.ac.uk)
  • To better understand the mechanism of NES-H3 and NES-H6-directed shuttling, we performed "RFP-trap" coimmunoprecipitation assays to determine which exportins interact specifically with these signals. (wm.edu)
  • Although all sixteen mutants appeared to interact with UL28 in co-immunoprecipitation experiments, four of the insertion mutants were defective in co-localisation with UL28 in immunofluorescence assays. (gla.ac.uk)
  • These dCas9-activator fusions targeted to the promoter region of endogenous genes can then modulate gene expression 7 - 11 . (cdc.gov)
  • The FA2 gene of Chlamydomonas encodes a NIMA family kinase with roles in cell cycle progression and microtubule severing during deflagellation. (bio.net)
  • Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)
  • There is no longer a need for signals to activate these genes. (cancerquest.org)
  • Non-canonical WNT signaling can also activate calcium flux and kinase cascades, including protein kinase C (PKC), calcium/calmodulin-dependent protein kinase II (CaMKII) and JUN N-terminal kinase (JNK), leading to the activation of AP1- and NFAT-regulated gene expression 25-27. (icsv20.org)
  • It is caused by nucleotide sequence changes within or in proximity of the TWIST1 gene. (uni-marburg.de)
  • Using the entire coding sequence of TWIST1 gene, an interesting candidate was found belonging to the class A bHLH transcription factors that includes the SEF2 gene product. (uni-marburg.de)
  • The combined H3/H6-219-254 fragment and the CRM1-dependent candidate sequence LBD-188-206 did not show significant cytosolic localization when analyzed using quantitative and semi-quantitative scoring. (wm.edu)
  • In some processes, chromatin modifications carry heritable regulatory information that is transmitted from mother to daughter cells, whereas in other cases, they are implicated in the execution of the information contained in the DNA sequence, or occur as a consequence of dynamic nuclear processes such as transcription. (plos.org)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • With roughly 30,000 genes in mammalian genomes, fection with a vector encoding MyoD (Tapscott et al. (lu.se)
  • Members of both the SLC4 and SLC26 mammalian gene families encode Na + -independent Cl - -HCO3 - exchangers. (tcdb.org)
  • Gene expression studies showed that OsGRXS17 was present throughout the plant and that transcript abundance increased in response to drought stress and abscisic acid (ABA) treatment. (mcmaster.ca)
  • In this review, we discuss the role of 3' regulatory regions in gene expression, and the superior potential that plant 3' regulatory regions have compared to NOS, OCS and 35S 3' regulatory regions. (frontiersin.org)
  • Previous higher plant studies have associated them with functions at the nuclear envelope and the endoplasmic reticulum (ER). (brookes.ac.uk)
  • Despite its emerging role as a key structural and signaling platform, the plant NE remains one of the least understood membrane systems. (brookes.ac.uk)
  • Co-localisation studies of Arabidopsis SR splicing factors reveal different types of speckles in plant cell nuclei. (boku.ac.at)
  • Lysine-71 in the large delta antigen of hepatitis delta virus clade 3 modulates its localization and secretion. (cgu.edu.tw)
  • The Delta rbp35 mutant is affected in the TOR (target of rapamycin) signaling pathway showing significant changes in nitrogen metabolism and protein secretion. (upv.es)
  • Cloning and characterization of an active fragment of luciferase from a luminescent marine alga, Pyrocystis lunula. (bio.net)
  • Oelkers P, Dawson PA: Cloning and chromosomal localization of the human ileal lipid-binding protein. (hmdb.ca)
  • Nuclear localization of the C2H2 zinc finger protein Msn2p is regulated by stress and protein kinase A activity. (boku.ac.at)
  • INTRODUCTION identified as Int-1, the Wnt1 gene was uncovered over 30 years back being a gene turned on by integration of mouse mammary tumor trojan (MMTV) proviral DNA in SKF-96365 hydrochloride virally induced breasts tumors 1, 2. (icsv20.org)
  • [ 8 ] The hGR gene is one locus on the long arm of chromosome 5 (q31.3) and consists of 9 exons. (medscape.com)
  • Hepatitis B virus alters the antioxidant system in transgenic mice and sensitizes hepatocytes to Fas signaling PLoS One. (usc.edu)
  • Krüppel-like factor 15 activates hepatitis B virus gene expression and replication Hepatology. (usc.edu)
  • Through APA, a single gene containing multiple PAS can generate a considerable number of transcript isoforms, thereby producing a highly diversified transcriptome ( Tian and Manley, 2013 ). (frontiersin.org)
  • Three transcript variants encoding two different isoforms have been found for this gene. (antibodies-online.com)
  • We also synthesize a library consisting of 70,290 guides targeting all human RefSeq coding isoforms to screen for genes which, upon activation, confer resistance to a BRAF inhibitor. (cdc.gov)
  • Inhibition of RIG-I-mediated signaling by Kaposi's sarcoma-associated herpesvirus-encoded deubiquitinase ORF64 J Virol. (usc.edu)
  • Fig. 6: Characterization of the selective sensitivity of hESCs to mTOR inhibition. (nature.com)
  • Hence, this review is supposed to serve as a refresher of the existing understanding about the physiologic and pathogenic assignments of WNT/-catenin signaling pathway, also to put together potential therapeutic possibilities by concentrating on the canonical WNT pathway. (icsv20.org)
  • WNT palmitoylation is vital for WNT signaling and it is completed by PORC, an ardent ER-localized O-acyltransferase and extremely conserved element of the WNT pathway 32, 33. (icsv20.org)
  • Dysregulation of WNT signaling pathway is normally associated with several human illnesses 17-27. (icsv20.org)
  • Although K76R mutants cannot inhibit nuclear localization by itself, we demonstrate it plays a synergistic role with the NLS1 K38R mutation to further reduce nuclear localization. (uni-marburg.de)
  • This synergistic effect is consistent with the observation that combined K38R (NLS1) and K76R (NLS2) mutants dramatically reduced nuclear localization, further suggesting that both NLS1 and NLS2 work together in regulating nuclear localization of TWIST protein. (uni-marburg.de)
  • This thesis describes the creation and characterisation of a number of UL33 insertion mutants in an effort to examine structure-function relationships within this protein and gain further insights into its function. (gla.ac.uk)
  • Both NES-H3 and NES-H6 motifs show significant individual export function of localizing the mCherry-MBP-Hinge nuclear protein to the cytosol. (wm.edu)
  • Recently, we described the characterisation of a parasite gene (TashAT2), whose polypeptide product bears AT hook DNA-binding motifs and may be transported from the parasite to the host nucleus. (lookformedical.com)
  • No prior knowledge of gene or gene effects is necessary, but the genetic locus must have sufficient impact on the disease susceptibility to be detectable. (scialert.net)
  • However, until very recently, the genes involved have been poorly understood. (scialert.net)
  • These results demonstrated that substitution at NLS2 position 76 does not play an essential role in the nuclear localization of TWIST, in contrast to the K73R and K77R that inhibit nuclear accumulation. (uni-marburg.de)
  • Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders. (rochester.edu)
  • Polyadenylation is essential for the stability of the transcript, preventing the mRNA from being the target of posttranscriptional gene silencing (PTGS) via RNA-dependent RNA polymerase 6 (RDR6) in plants ( Luo and Chen, 2007 ). (frontiersin.org)
  • Pol β is the smallest polymerase in family X. Other members of the family have a nuclear localization signal (NLS), a BRCA1 C-terminal (BRCT) domain, and a proline rich region. (biomedcentral.com)
  • A human BRCA1 gene knockout. (xenbase.org)
  • Hs-CUL-2 may be required for VHL function and, therefore, may be a candidate human tumor suppressor gene. (nih.gov)
  • In human beings, calpains are encoded by 15 genes with examined associates from the grouped family members getting the ubiquitously portrayed associates, calpains 1 and 2, referred to as - and m-calpain also, respectively. (exposed-skin-care.net)
  • cMYC regulates approximately 15% of human genes and is involved in up to 20% of all human cancers. (biomedcentral.com)
  • Overall, we have constructed an atlas of essential and growth-restricting genes in hPSCs, revealing key aspects of cellular essentiality and providing a reference for future studies on human pluripotency. (nature.com)
  • The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)
  • The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)
  • Significant downregulation of beta-defensin1 gene (DEFB1) expression was observed when human bronchial epithelial cells (HBEpCs) were exposed to IAV. (cdc.gov)
  • An early on identified take a flight Wingless (Wg) gene, which regulates portion polarity during larval advancement 3, was discovered to be always a WNT1 homolog 4. (icsv20.org)
  • More than 96% of individuals with a clinical diagnosis of Denys-Drash syndrome have been found to carry a mutation in the WT1 gene. (medscape.com)
  • Mutation in a single allele of the WT1 gene is sufficient to produce nephropathy and intersex disorder. (medscape.com)
  • Among the selected CqbZIPs , 3 of 4 duplicated gene pairs shared similar expression patterns, suggesting that these duplicated genes might retain some essential functions during subsequent evolution. (biomedcentral.com)
  • states'' or gene expression patterns. (lu.se)
  • Characterization of common BRCA1 and BRCA2 variants. (xenbase.org)
  • The larger the gene name, the more frequently that gene is defective in that cancer type. (cancerquest.org)
  • Eukaryotes have a mechanism termed alternative polyadenylation (APA), which allows the selective use of PAS in genes containing multiple PAS. (frontiersin.org)
  • This gene encodes for a bHLH transcription factor, which inhibits osteogenic differentiation by transc. (uni-marburg.de)
  • It encodes a nuclear phosphoprotein that acts as a growth promoter and a transcription factor. (biomedcentral.com)
  • Nuclear localization destabilizes the stress-regulated transcription factor Msn2. (boku.ac.at)
  • 3) Ronald, J., Wilkinson, A. J., and Davis, S. J. (2021) EARLY FLOWERING3 sub-nuclear localization responds to changes in ambient temperature. (findaphd.com)