• Linkage analysis and chromosomal rearrangement revealed the cause of SCS to be mutations in the TWIST gene (twist transcription factor gene) located on chromosome 7p21. (wikipedia.org)
  • The mouse TWIST gene is located on chromosome 12 in mice, which corresponds to the short arm of chromosome 7 in humans. (wikipedia.org)
  • With this information, scientists began to isolate and map the human TWIST gene on the short arm of human chromosome 7. (wikipedia.org)
  • We have isolated and analyzed the sequence of bacterial artificial chromosome clones from the syntenic mouse chromosome 5 region that contains Gtf2ird1 and Gtf2i as well as a neighboring gene, Ncf1. (elsevierpure.com)
  • We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo heterozygous deletion of the long arm of the chromosome 12 (12q14.3) encompassing the HMGA2 gene. (biomedcentral.com)
  • Single additional alterations to del(5q) by balanced chromosome rearrangements were rarely found in myelodysplasia. (biomedcentral.com)
  • Here we report on a 79-year woman with an aggressive form of myelodysplastic syndrome with del(5q), no TP53 mutation, and a novel complex rearrangement of chromosome 3 in bone marrow cells. (biomedcentral.com)
  • Our results revealed that the FOXP1 and TP63 genes were both relocated along chromosome 3. (biomedcentral.com)
  • Conversely, balanced chromosome rearrangements were rarely found as a single additional alteration to del (5q). (biomedcentral.com)
  • The complex chromosome 3 rearrangement was found in all the metaphases, strongly suggesting its role as a driver mutation. (biomedcentral.com)
  • A filamentous bacteriophage (CTXf) integrated in the Vibrio cholerae chromosome encodes the cholera toxin, and Matthew Waldor (New England Medical Center, Boston, MA) described another phage (RS1) that flanks the CTXf prophage in the bacterial chromosome and is important for the CTXf prophage propagation. (cdc.gov)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17 . (medlineplus.gov)
  • The helix-loop-helix repeats of Gtf2ird1 and Gtf2i are encoded separately on adjacent exons and were generated by independent genomic rearrangements. (elsevierpure.com)
  • Interestingly, most of their encoding genes reside in hypermethylated genomic regions: thus, their tumor suppressor function is normally disallowed in these tumors. (oncotarget.com)
  • Southern analysisdid not reveal gross DNA rearrangements within the bc10 genomic locus in theinvasive tumors, implying that the differential expression of the gene mostlikely reflects alterations in messenger expression (transcription and/or mRNAdecay). (embl-heidelberg.de)
  • Jawed vertebrates (gnathostomes) generate a diverse repertoire of B and T cell antigen receptors through the rearrangement of immunoglobulin V, D, and J gene fragments, whereas jawless fish (agnathans) assemble diverse lymphocyte antigen receptor genes through the genomic rearrangement of leucine-rich repeat (LRR) - encoding molecules. (scielo.br)
  • For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
  • Figure 1A: Genomic rearrangement involving USP16 and RUNX1 genes in a CMML. (atlasgeneticsoncology.org)
  • CF27 exhibits a large number of genomic islands (mostly containing genes of unknown function), suggesting that a large number of genes has been acquired by horizontal gene transfer over time. (frontiersin.org)
  • Mutations, overexpression, rearrangement and translocation of the gene encoding MYC have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. (omnimabs.com)
  • Genes and genomes are stable, and except for rare, random mutations, are passed on unchanged to the next generation. (i-sis.org.uk)
  • 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 last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. (biomedcentral.com)
  • By focusing on the X chromosomes of affected males, the researchers noted an additional seven genes with multiple loss-of-function mutations. (genomeweb.com)
  • A number of these novel genes were uncovered in multiple families: mutations in PHF3, which encodes a PHD finger protein that regulates transcription, were found in four families, while MED13 was mutated in three families. (genomeweb.com)
  • Multiple mutations affecting embryonic development have been induced by chemical and insertional mutagenesis resulting in the identification of genes with important roles in development in Drosophila [ 23 - 25 ]. (biomedcentral.com)
  • The gene organization of Gtf2ird1, Gtf2i, and Ncf1 is conserved in mice and humans, although the intronic regions are more compact in the mouse genome. (elsevierpure.com)
  • 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)
  • The coordinated transcription of the genome is the fundamental mechanism in molecular biology. (mdpi.com)
  • This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones. (nih.gov)
  • in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)
  • Ploidy and MYCN amplification have been used as genetic markers for risk stratification and therapeutic decision making, and, more recently, gene expression profiling and genome-wide DNA copy number analysis have come into the picture as sensitive and specific tools for assessing prognosis. (biomedcentral.com)
  • The applica tion of new genetic tools also led to the discovery of an important familial neuroblastoma cancer gene, ALK , which is mutated in approximately 8% of sporadic tumors, and genome-wide association studies have unveiled loci with risk alleles for neuroblastoma development. (biomedcentral.com)
  • Genome-wide studies in Saccharomyces cerevisiae , for example, have revealed that promoters of most actively transcribed genes are depleted of nucleosomes and that histone density is inversely proportional to the transcription rate within coding regions, suggesting that nucleosomes are dynamically disassembled and reassembled at each passage of the polymerase ( 16 ). (asm.org)
  • A panel of genes has been identified whose cancer genome alterations may predict whether non-metastatic prostate cancer would go on to metastasize. (mdpi.com)
  • Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. (atlasgeneticsoncology.org)
  • We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
  • Rearrangement or overexpression of c-rel can cause tumorigenesis. (bvsalud.org)
  • Overexpression of ZmWUS1-B is due to multimerized binding sites for type-B RESPONSE REGULATORs (RRs), key transcription factors in cytokinin signaling. (nature.com)
  • The regulation of WUS transcription is crucial for meristem homeostasis, whereby high WUS expression leads to enlarged meristems and low expression leads to the formation of small meristems 3 , 14 . (nature.com)
  • Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)
  • Although it is clear that switching among BESs does not involve DNA rearrangements and that regulation is probably epigenetic, it remains unknown why BESs are transcribed by Pol I and what roles are played by chromatin structure and histone modifications. (asm.org)
  • Regulation of nucleosome density is therefore an important mechanism to enable the transcription machinery to access the DNA. (asm.org)
  • We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
  • Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
  • In functional analyses, they found that 80 percent of the risk genes were connected to gene networks often involved in synaptic transmission, transcriptional regulation, and RNA processing. (genomeweb.com)
  • Regulation of gene expression plays a central role in embryonic development. (biomedcentral.com)
  • On the other hand, since the eukaryotes are not separated from the transcription and transcription process in the nuclear structure, the transcriptional enzyme is not limited by the mobile factor, but by other genes pass trans. (techintroduce.com)
  • This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. (vectorbiolabs.com)
  • A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
  • These are frequently activated by fusion to other transcriptional proteins resulting in chimeric transcription factors. (stanford.edu)
  • We demonstrate here that GSK-3 maintains the MLL leukemia stem cell transcriptional program by promoting the conditional association of CREB and its coactivators TORC and CBP with homedomain protein MEIS1, a critical component of the MLL-subordinate program, which in turn facilitates HOX-mediated transcription and transformation. (stanford.edu)
  • We find that chromosomal rearrangements and related recombination defects are major but not sole causes of hybrid infertility. (elifesciences.org)
  • Based on our previous results we hypothesize that Meig1 is involved in safeguarding DNA integrity especially during meiotic recombination and lymphocytes DNA rearrangement. (biu.ac.il)
  • 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)
  • Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
  • In addition, these findings provide further support for models in which conflicts between different genes in genomes can drive the process of speciation. (elifesciences.org)
  • Genes and genomes cannot be changed directly in response to the environment. (i-sis.org.uk)
  • Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. (vectorbiolabs.com)
  • He performed some of the first studies to identify transcription factors that regulate the gene expression and differentiation of eosinophils, which are known to play a major role in allergic and asthmatic responses. (ubc.ca)
  • NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. (abcam.com)
  • Subsequent differentiation allows for rear- analysis of a set of mouse B lineage cell lines rep- rangements of the Ig light-chain (IgL) genes that replace the resenting defined stages of B cell development us- surrogate light-chain genes on the surface of the B cell [8]. (lu.se)
  • the gene expression profile during B lymphoid differentiation. (lu.se)
  • Specifically, this protein helps control the transcription of certain genes important in the maturation (differentiation) of white blood cells beyond the promyelocyte stage. (medlineplus.gov)
  • A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. (medlineplus.gov)
  • The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
  • Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
  • In particular, balanced alterations involving TP63 and FOXP1 genes were never reported in the literature. (biomedcentral.com)
  • Recent innovations have helped to develop prescription drugs against certain prostate cancer types, showing gene alterations that prevent the repair of damaged DNA or activate the body's anti-cancer natural immune defense. (mdpi.com)
  • It functions as a transcription factor that regulates transcription of specific target genes. (omnimabs.com)
  • The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. (abcam.com)
  • In the last decade, several studies have suggested the role of HMGA2 as candidate gene in those patients with SRS phenotype and negative result of classical genetic tests for SRS. (biomedcentral.com)
  • We report the clinical and genetic characteristics of a patient with SRS phenotype and a de novo 425 Kb microdeletion of 12q14.3 region encompassing the HMGA2 gene but not the LEMD3 gene. (biomedcentral.com)
  • Rel frequently combines with other related proteins (NF-KAPPA B, I-kappa B, relA) to form heterodimers that regulate transcription. (bvsalud.org)
  • thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. (vectorbiolabs.com)
  • These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
  • Chromatin also regulates Pol I transcription, although its mechanistic details are less understood. (asm.org)
  • To identify novel genes that may be associated with the invasive phenotype ofbladder cancer, we compared the mRNA expression profiles of fresh noninvasive(grade II, Ta) and invasive (grade III, T2-T4) human transitional cell carcinomas(TCCs) by mRNA differential display. (embl-heidelberg.de)
  • Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)
  • Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.org)
  • Reverse transcription seater auto-encoding an integrase, the integrated portion of the integrated portion has a fixed length forward repair, indicating that the integrated enzyme can distract the target sequence, and the target sequence is multiplied by replication. (techintroduce.com)
  • Unlike sequence-specific transcription factors, epigenetic regulators do not necessarily bind DNA at consensus sequences, but still achieve reproducible target binding in a manner that is cell and maturation-type specific. (frontiersin.org)
  • The sequence of this gene is defined by 16 cDNA clones and 18 elements defined by RNA-seq, some from mixed (seen 7 times), embryo (5), l2 (once). (nih.gov)
  • and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)
  • Acquired characters are not inherited, as germline genes are not influenced by the environment. (i-sis.org.uk)
  • Gene or gene domains or intense genes with advances into new regulators. (techintroduce.com)
  • Activation of CLV3 in the OC is prevented by the action of WUS in conjunction with the GRAS-transcription regulators HAIRY MERISTEMs (HAMs) 4 , 5 . (nature.com)
  • Using a network reconstruction algorithm, we predict that known chloroplast gene expression regulators are differentially involved across those developmental stages. (biomedcentral.com)
  • Transcriptomic analyses provide an efficient approach to explore the temporal gene expression profiles in embryos and to search for the developmental regulators. (biomedcentral.com)
  • The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. (arigobio.com)
  • The absence of some genes implies varied phenotypes, which detailed explanation is not fully elucidated yet. (bvsalud.org)
  • CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)
  • Scherer and his colleagues noted that about 60 percent of these 61 autism-risk genes were associated with syndromes or phenotypes, typically related to intellectual disability, in the Online Mendelian Inheritance in Man database. (genomeweb.com)
  • 1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
  • Acquisitions of OspC genes that are novel for the region confer to recipients unique identities to host immune systems and, presumably, selective advantage when immunity to existing types is widespread among hosts. (cdc.gov)
  • 2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)
  • This includes investigation into the expression and function of several mouse spermatogenic genes as well as a bioinformatic study aimed at obtaining a more general view of the molecular program of meiosis. (biu.ac.il)
  • Through gene knockout studies he has shown that these molecules act as a type of molecular "Teflon" to make cells more mobile and invasive and also facilitate chemotaxis. (ubc.ca)
  • However, to date the prognostic impact and molecular consequences of these rearrangements were poorly investigated. (biomedcentral.com)
  • This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)
  • Strikingly, immunohistochemistry analysis showed altered protein levels, disclosing that this rearrangement triggered the expression of FOXP1 and TP63 genes. (biomedcentral.com)
  • 3. Translational research - to identify predictive biomarkers for treatment decision - by immunohistochemistry, gene expression or sequencing. (lu.se)
  • One of the few antigens against which mammals develop protective immunity is the highly polymorphic OspC protein, encoded by the ospC gene on the cp26 plasmid. (cdc.gov)
  • In most organisms, Pol I exclusively transcribes rRNA genes, of which there are usually 100 to 1,000 copies arranged in tandem. (asm.org)
  • Please see the Entrez Gene record to access additional publications. (avivasysbio.com)
  • Aym1 was identified in a screen for mouse genes that could activate early yeast meiotic genes in ime1 mutant yeast cells. (biu.ac.il)
  • BRD4 Promotes DNA Repair and Mediates the Formation of TMPRSS2-ERG Gene Rearrangements in Prostate Cancer. (utsouthwestern.edu)
  • In cancer, rearrangements involving RARA have been observed in AML and APL. (mycancergenome.org)
  • The PML-RARα protein functions differently than the protein products of the normal PML and RARA genes. (medlineplus.gov)
  • The PML-RARA gene fusion accounts for up to 98 percent of cases of acute promyelocytic leukemia. (medlineplus.gov)
  • Translocations involving the RARA gene and other genes have been identified in a few cases of acute promyelocytic leukemia. (medlineplus.gov)
  • Among these are traits that depend on functional meristems, populations of stem cells maintained by the CLAVATA-WUSCHEL (CLV-WUS) negative feedback-loop that controls the expression of the WUS homeobox transcription factor. (nature.com)
  • A hallmark of events observed during segmentation was the induction of multiple transcription factors, including a large group of homeobox proteins in pace with decay of a large fraction of maternal transcripts. (biomedcentral.com)
  • Based on all these data, we propose that miR-29a-3p, miR-34b-3p, miR-181c-5p and miR-517a-3p are disallowed tumor suppressor genes in neuroblastoma and suggest them as new therapeutic targets in neuroblastoma. (oncotarget.com)
  • Caenorhabditis elegans gene dpy-21 , DumPY : shorter than wild-type. (nih.gov)
  • X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which encodes the pre-B-cell receptor (Pre-BCR) and BCR. (medscape.com)
  • These genes were gauged to be likely mutation-intolerant by the ExAC database. (genomeweb.com)
  • Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication.The protein encoded by this proto-oncogene is a member of the Dbl family of guanine nucleotide exchange factors (GEF) for the Rho family of GTP binding proteins. (avivasysbio.com)
  • Genes mainly involved in coding adhesion molecules and growth factors have also been found to be upregulated in other types of CAFs, including colon ( 12 ) and pancreatic ( 13 ). (spandidos-publications.com)
  • first focus on transcription factors and other parameters, such as cytokine receptor signaling. (scielo.br)
  • A diagram showing the major cancer genes for some cancers. (cancerquest.org)
  • The larger the gene name, the more frequently that gene is defective in that cancer type. (cancerquest.org)
  • These genes have been found to be either malfunctioning or non-functioning in many different kinds of cancer. (cancerquest.org)
  • The human protein O60629 or BC10 has been implicated in bladder cancer where the transcription of the gene coding for this protein is nearly completely abolished in highly invasive transitional cell carcinomas (TCCs) PMID:11920613. (embl-heidelberg.de)
  • The activity of these genes may help to guide treatment decision for non-metastatic cancer with the choice for non-aggressive versus debilitating aggressive options. (mdpi.com)
  • Inoculation with a high dose strains of LMP1 transgenic mice vide a powerful tool in mechanistic of EBV caused a B-cell lymphopro- were established that express LMP1 studies on the role of individual viral liferative disorder in these mice, under the control of the immunoglob- genes in cancer. (who.int)
  • The developmental gradient in monocot leaves has been exploited to uncover leaf developmental gene expression programs and chloroplast biogenesis processes. (biomedcentral.com)
  • This allows us to generate the first biologically-informed gene expression map of this leaf, with the entire developmental gradient from meristematic to fully differentiated cells captured. (biomedcentral.com)
  • Early ontogeny is associated with dramatic gene expression changes that underlie and determine the developmental processes. (biomedcentral.com)
  • Here we show that the maize dominant Barren inflorescence3 ( Bif3 ) mutant harbors a tandem duplicated copy of the ZmWUS1 gene, ZmWUS1-B , whose novel promoter enhances transcription in a ring-like pattern. (nature.com)
  • His laboratory has followed two primary interests: 1) the transcription factor networks that regulate fate determination in various cells that make blood, and 2) the cell surface proteins expressed by hematopoietic stem cells that and allow them to communicate with their microenvironment. (ubc.ca)
  • TY factor is often located in the TRNA gene, The 5SrRNA gene and the gene of the U6 are adjacent or upstream, showing the promoters or related sequences of these transposons to transcribed by RNA polymerase III. (techintroduce.com)
  • Studies of genes transcribed by RNA polymerase II (Pol II) have shown that open and closed chromatin structures are dynamically regulated through multiple mechanisms, including histone modifications, histone variant incorporation, and DNA methylation (reviewed in reference 17 ). (asm.org)
  • KAP1 Is a Chromatin Reader that Couples Steps of RNA Polymerase II Transcription to Sustain Oncogenic Programs. (utsouthwestern.edu)
  • According to the structure: a long-end repeating structure (LIT) similar to the reverse transcription virus, containing GAG and POL genes, but the film-free protein gene ENU does not have LTR but has 3'Polya, with Cardiocodecodes containing GAG and POL Similar sequences, 5 'is often truncated. (techintroduce.com)
  • In the CZ, WUS activates the CLV3 gene, encoding a short signaling peptide perceived by a series of leucine-rich repeat (LRR)-receptor-like complexes, among which are complexes containing CLV1 and CLV2. (nature.com)
  • Activates the transcription of growth-related genes. (arigobio.com)
  • Analysis of virulence related gene expression and computational simulations of pivotal proteins involved in pathogenesis demonstrate that myricetin downregulates the saeR global regulator and interacts with sortase A and α-hemolysin. (nature.com)
  • Numerous genes transcribed in oocytes are involved in multiple aspects of cell maintenance and protection, including metabolism, signal perception and transduction, RNA processing, cell cycle, defense against pathogens and DNA damage. (biomedcentral.com)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)
  • In contrast, genes transcribed by Pol II are organized in a more compact, regularly spaced, nucleosomal structure. (asm.org)
  • One basic problem is how a decrease in tRNA levels, by downregulating Pol III efficiency, influences the expression pattern of protein-coding genes. (mdpi.com)