Proteins transcription gene rearrangement. Medical search. Frequent questions

Recent advances in nucleic acid sequencing now permit rapid and genome-scale analysis of genetic variation and transcription, enabling population-scale studies of human biology, disease, and diverse organisms. (biorxiv.org)
PG2 integrates genome and transcriptome sequencing to incorporate protein variants containing amino acid substitutions, insertions, and deletions, as well as non-canonical reading frames, exons, and other variants caused by genomic and transcriptomic variation. (biorxiv.org)
Non (protein)-coding RNAs are the most abundant transcriptional products of the coding genome, and comprise several different classes of molecules with unique lengths, conformations and targets. (frontiersin.org)
SIGNIFICANCE: The demonstration that a somatic point mutation tips the balance of genome-binding pattern provides a mechanistic paradigm for how missense mutations in transcription factor genes may be oncogenic in human tumors.This article is highlighted in the In This Issue feature, p. 681. (ox.ac.uk)
The genome is primarily non-protein coding DNA, which is actively transcribed in a cell and tissue-specific fashion. (pendari.com)
Noncoding RNAs can promote genome rearrangement, and also instruct DNA synthesis. (pendari.com)
Mechanistically, SHARP1 binds to transcriptionally active chromatin across the genome and activates genes critical for cell survival as well as key oncogenic targets of MLL-AF6. (ox.ac.uk)
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)
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones. (nih.gov)
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. (atlasgeneticsoncology.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)
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)
The coordinated transcription of the genome is the fundamental mechanism in molecular biology. (mdpi.com)
The genome of RVA consists of 11 double-stranded RNA segments that code for 11 or 12 viral proteins (VP1-VP4, VP6, VP7, nonstructural protein 1 [NSP1]-NSP5/6) ( 2 ). (cdc.gov)
The sequencing templates were prepared by using sequence-independent whole-genome reverse transcription PCR amplification ( 7 ) with slight modifications. (cdc.gov)

Scope includes mutations and abnormal protein expression. (cancerindex.org)
We have previously shown that disruption of the human CREB binding protein ( CREBBP or CBP ) gene, either by these gross chromosomal rearrangements or by point mutations, leads to RTS. (bmj.com)
Analyses of the entire CBP gene by the protein truncation test showed 4/37 truncating mutations. (bmj.com)
It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a variant of Saethre-Chotzen syndrome. (medlineplus.gov)
Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. (medlineplus.gov)
Mutations in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. (medlineplus.gov)
At least 85 mutations in the FUS gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement. (medlineplus.gov)
Most of these mutations change single protein building blocks in the FUS protein and often affect the region of the protein involved in DNA binding and mRNA processing. (medlineplus.gov)
People with ALS caused by mutations in the FUS gene tend to develop the disease at a younger age and have a decreased life expectancy compared with individuals who have sporadic ALS or ALS caused by mutations in other genes. (medlineplus.gov)
Rarely, people with ALS caused by FUS gene mutations also develop a condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. (medlineplus.gov)
It is unclear why some people with FUS gene mutations develop FTD and others do not. (medlineplus.gov)
Specific mutations involving the FUS gene are involved in several types of cancer. (medlineplus.gov)
Most commonly, mutations in this gene are found in tumors called soft tissue sarcomas, which develop in bones or in soft tissues such as nerves or cartilage. (medlineplus.gov)
FUS gene mutations have also been found in myxoid liposarcomas, which occur in fatty tissues of the body, and in cancer of the blood-forming cells in the bone marrow called acute myeloid leukemia (AML). (medlineplus.gov)
ALS mutations in TLS/FUS disrupt target gene expression. (medlineplus.gov)
The PU.1/SPI1 gene is inactivated by point mutations in human myeloid malignancies. (ox.ac.uk)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)
Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)
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)
Mutations, overexpression, rearrangement and translocation of this MYC gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma.The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. (omnimabs.com)
Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. (omnimabs.com)
Similar to other RNA viruses, RVAs show high genomic diversity, which is generated primarily through point mutations, reassortment, rearrangement, and recombination events. (cdc.gov)
NEMO consists of 10 exons, and most mutations cause deletions of exons 4-10, resulting in a truncated protein. (medscape.com)
Hypomorphic mutations may impair but not abolish NEMO protein function. (medscape.com)

of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. (medlineplus.gov)
Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features. (medlineplus.gov)
The genetic changes associated with these cancers are rearrangements (translocations) of genetic material between chromosome 16 (where the FUS gene is located) and other chromosomes. (medlineplus.gov)
These translocations break chromosome 16 in the middle of the FUS gene and fuse it with another gene on a different chromosome, creating a fusion gene. (medlineplus.gov)
Our work focuses on the functions of Y chromosome-encoded RNA binding proteins in non-reproductive organs. (pendari.com)
And the functional differences between Y chromosome-encoded RNA binding proteins and their homologous proteins on the X chromosomes. (pendari.com)
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)
[ 2 ] The defect in the X chromosome is proximal to the gene for factor VIII at Xq28. (medscape.com)
Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)

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)
Proto-Oncogene Proteins c-rel" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
This graph shows the total number of publications written about "Proto-Oncogene Proteins c-rel" by people in this website by year, and whether "Proto-Oncogene Proteins c-rel" was a major or minor topic of these publications. (childrensmercy.org)
Below are the most recent publications written about "Proto-Oncogene Proteins c-rel" by people in Profiles. (childrensmercy.org)

When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties. (medlineplus.gov)

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)

It is therefore included in the bHLHZ family of transcription factors. (wikipedia.org)
It is able to form homodimers with other MAX proteins and heterodimers with other transcription factors, including Mad, Mxl1 and Myc. (wikipedia.org)
This protein is a member of the Dbl family of guanine nucleotide exchange factors (GEF) for the Rho family of GTP binding proteins. (avivasysbio.com)
These are frequently activated by fusion to other transcriptional proteins resulting in chimeric transcription factors. (stanford.edu)
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)
However, a growing body of evidence suggests that recruitment, stability, and function of epigenetic factors can be mediated by non-protein-coding RNAs. (frontiersin.org)
Here, it is demonstrated that TGFβ facilitates Tβ4 expression and leads to the activation of myocardin-related transcription factors (MRTF), which are coactivators of serum response factor (SRF) and regulate the expression of genes critical for the epithelial-mesenchymal transition (EMT) and tumor metastasis. (aacrjournals.org)
The ETS-domain transcription factors divide into subfamilies based on protein similarities, DNA-binding sequences, and interaction with cofactors. (ox.ac.uk)
Mutant SPI1 binding at promoters activates gene sets typically promoted by other ETS factors, resulting in enhanced proliferation and decreased terminal B-cell differentiation in model cell lines and primary samples. (ox.ac.uk)
Cooperative activity of GR with other transcription factors and a plethora of coregulators contribute to the tissue- and context-specific response toward the endogenous and pharmacological glucocorticoids (GCs). (uni-ulm.de)
These epigenetic changes can affect the activity of proteins called transcription factors and DNA sequences called enhancers, known as the gene regulatory network. (embl.org)
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)
Targets transcription factors involved in the regulation of inflammatory responses and in the immune response: suppresses NF-kappa-B activation, and activates AP-1 (By similarity). (proteopedia.org)

Mad:Max, Max:Myc) provides a system of transcriptional regulation with greater diversity of gene targets. (wikipedia.org)
Furthermore, Max required BRG1 to activate neuroendocrine transcriptional programs and to up-regulate Myc targets, such as glycolytic-related genes. (wikipedia.org)
We are studying the effects and consequences of protein fusion on the transcriptional and transforming activities of these proteins using in vitro and animal models. (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)
MKL1 and MKL2 ), or robust SRF transcriptional coactivators, have been reported to organize actin cytoskeletal rearrangement and regulate cell motility by controlling the expression of dozens of cytoskeletal/adhesion genes ( 4-6 ). (aacrjournals.org)
Most plastid genes are presumably transcribed as polycistronic mRNAs which then undergo various post-transcriptional modifications [ 3 ]. (biomedcentral.com)
Some of these rearrangements resulted in disruption of canonical operons and creation of novel co-transcriptional units. (biomedcentral.com)
In line with this, RBPJL is able to fully reconstitute transcriptional repression at Notch target genes in cells lacking RBPJ. (uni-ulm.de)
8 The MeCP2 protein, initially characterized by its ability to bind single methylated CG nucleotides, 9 plays a significant role in the transcriptional silencing of genes. (neurology.org)

It is reasonable to assume that this translocation corresponds to the consistent rearrangement of one or two genes in 12q13 and/or 16p11, and that the loci thus affected are important in the normal control of fat cell differentiation and proliferation. (lu.se)

Rearrangement or overexpression of c-rel can cause tumorigenesis. (bvsalud.org)

We find that chromosomal rearrangements and related recombination defects are major but not sole causes of hybrid infertility. (elifesciences.org)

1) Characterize novel families of oncoproteins (Pbx and Meis) that dimerize with and regulate the DNA binding properties of Hox proteins. (stanford.edu)
Rel frequently combines with other related proteins (NF-KAPPA B, I-kappa B, relA) to form heterodimers that regulate transcription. (bvsalud.org)
The enormous diversity of RBPs allows cells to regulate alternative splicing, which is crucial for making a large diversity of mRNA and protein isoforms, necessary for making diverse cell types and respond to environmental changes. (pendari.com)
The mutant proteins often retain some of their capabilities but are no longer sensitive to the controls that regulate the normal form of the protein. (cancerquest.org)
There he worked with Dr. Max D. Cooper (Howard Hughes Medical Institute, National Academy of Sciences) and his research focused on cell surface proteins expressed by preB cells that regulate B cell maturation and homing. (ubc.ca)
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)

Consequently, little is known about how gene expression changes in response to genomic rearrangements in plastids. (biomedcentral.com)
ETS genes are targeted through genomic rearrangements in oncogenesis. (ox.ac.uk)
The helix-loop-helix repeats of Gtf2ird1 and Gtf2i are encoded separately on adjacent exons and were generated by independent genomic rearrangements. (elsevierpure.com)

In summary, we describe oncogenic subversion of transcription factor function through subtle alteration of DNA binding leading to cellular proliferation and differentiation arrest. (ox.ac.uk)
The basic helix-loop-helix transcription factor SHARP1 is an oncogenic driver in MLL-AF6 acute myelogenous leukemia. (ox.ac.uk)
Here, we identify the circadian clock transcription factor SHARP1 as a novel oncogenic target in MLL-AF6 AML, which has the worst prognosis among all subtypes of MLL-rearranged AMLs. (ox.ac.uk)
Background: Approximately half of the prostate carcinomas are characterized by a chromosomal rearrangement fusing the androgen-regulated gene TMPRSS2 to the oncogenic ETS transcription factor ERG. (usuhs.edu)
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)

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)

Likewise, advances in mass spectrometry proteomics now permit highly sensitive and accurate studies of protein expression at the whole proteome-scale. (biorxiv.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.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)
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)
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)
In murine mammary gland cells (NMuMG), Tβ4 upregulation is required for full induction of a MRTF-regulated EMT gene expression program after TGFβ stimulation. (aacrjournals.org)
Tβ4-knockout B16F1 (Tβ4 KO) clones show significantly diminished expression level of tumor-associated genes, which is regulated by the TGFβ/MRTFs pathway. (aacrjournals.org)
In multiple human cancers, Tβ4 levels correlate positively with TGFβ1 and the tumor-associated gene expression levels through processes that respectively depend on TGFβ receptor 1 (TGFBR1) and MRTF expression. (aacrjournals.org)
We demonstrate that the expression of plastid coding genes is strongly functionally dependent among conifer species. (biomedcentral.com)
This finding indicates that plastomic rearrangement influences gene expression. (biomedcentral.com)
We also compared plastid gene expression levels among conifers and demonstrated a strong association between gene expression and plastomic rearrangements. (biomedcentral.com)
Research has revealed that noncoding RNAs have important biological functions, regulating gene expression at the levels of transcription, RNA processing, and translation. (pendari.com)
Acute Myeloid Leukemia (AML) with MLL gene rearrangements demonstrate unique gene expression profiles driven by MLL-fusion proteins. (ox.ac.uk)
Aim of this study was to comprehensively analyze the role and impact of the ERG rearrangement and protein expression on the progression to castration-resistant (CR) disease. (usuhs.edu)
We analyzed the ERG rearrangement status by fluorescence in situ hybridization and the expression profiles of ERG, androgen receptor (AR) and the proliferation marker Ki67 by immunohistochemistry. (usuhs.edu)
Remarkably, the study revealed a subgroup (26%) of CR PCs with ERG rearrangement but without any detectable ERG protein expression. (usuhs.edu)
Conclusions: In this study, we identified a subgroup of ERG-rearranged CR PCs without detectable ERG protein expression. (usuhs.edu)
The surprising thing was that we were expecting strong differences in the gene expression levels, but couldn't find anything. (embl.org)
It shows that there is much more information to be found in the chromatin states of a cell, rather than only looking at gene expression levels," says Judith. (embl.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)
tures and gene expression patterns. (lu.se)
immature cell is then subjected to negative selection to delete grouped based on their previously defined pheno- self-reactive cells before it leaves the BM to enter peripheral typic features, and a gene expression pattern for lymphoid organs, where it becomes a mature B cell [9]. (lu.se)
the gene expression profile during B lymphoid differentiation. (lu.se)
3. Translational research - to identify predictive biomarkers for treatment decision - by immunohistochemistry, gene expression or sequencing. (lu.se)

However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)
Fusion genes usually have partial function of both genes involved. (medlineplus.gov)
Results: Nearly half of the PC tissue specimens (HN: 38%, CR: 46%) harbored a TMPRSS2-ERG gene fusion. (usuhs.edu)
Inversion of the 21q21.3-q22.12 region and generation of USP16-RUNX1 gene fusion. (atlasgeneticsoncology.org)
The USP16-RUNX1 gene fusion characterized by RT-PCR is explained by the inversion of the central interval [BP2-BP3]. (atlasgeneticsoncology.org)
Fusion with the host cell is most likely mediated by both E1 and E2, through conformational rearrangements of the heterodimer required for fusion rather than a classical class II fusion mechanism (PubMed:16533059, PubMed:29505618, PubMed:24698129). (proteopedia.org)

Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
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)
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)

The FUS protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. (medlineplus.gov)
Chromatin also regulates Pol I transcription, although its mechanistic details are less understood. (asm.org)
It functions as a transcription factor that regulates transcription of specific target genes. (omnimabs.com)
Regulates the activity of cellular genes, including c-myc and c-fos (By similarity). (proteopedia.org)

Please see the Entrez Gene record to access additional publications. (avivasysbio.com)

Click on any transcript to open the specific mRNA page, to see the exact cDNA clone support and eventual SNPs and to get details on tissues, sequences, mRNA and protein annotations. (nih.gov)

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)
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)

However, most proteomic studies rely on consensus databases to match spectra to peptide and proteins sequences, and thus remain limited to the analysis of canonical protein sequences. (biorxiv.org)
11 And human diseases, including cancer in particular, tend to be defined by the presence of proteins with altered and pathogenic sequences. (biorxiv.org)
These are sequences of DNA that don't carry instructions for making proteins, but are responsible for other functions such as gene regulation. (embl.org)
In 2008, the Rotavirus Classification Working Group established a system of extended classification that was based on the sequences of all 11 gene segments and used the notations Gx-P[x]-Ix-Rx-Cx-Mx-Ax-Nx-Tx-Ex-Hx for the genes VP7, VP4, VP6, VP1-VP3, NSP1-NSP5, respectively ( 3 ). (cdc.gov)
BLAST analysis of sequences deposited in GenBank indicated that the 2011729115 NSP2 gene was 100% identical to published RotaTeq NSP2 gene sequences and clustered with the 5 RotaTeq NSP2 sequences in phylogenetic analysis ( Figure ). (cdc.gov)

We have used Southern blot technique to test whether a gene of the CCAAT/enhancer binding protein (C/EBP) family, CHOP, which maps to 12q13 and is assumed to be involved in adipocyte differentiation, could be the 12q gene in question. (lu.se)
Over the past years, epigenetics has been shown to play a central role in many different key functions at the cellular level, including differentiation, replication, and gene transcription 3 . (nature.com)
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)

Epigenetic regulation refers to the multiple chemical modifications of DNA or DNA-associated proteins that alter chromatin structure and DNA accessibility in a heritable manner, without changing DNA sequence. (frontiersin.org)
To date, most of our understanding of epigenetic regulation and its participation in leukemogenesis is based on the enzymatic activities and protein-protein interactions of histone and DNA modifiers. (frontiersin.org)
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)
Researchers found a huge epigenetic rearrangement in the patients' lung cells. (embl.org)
Instead of finding a single clear cause, their results showed large epigenetic disturbances - changes that don't occur in the DNA sequence itself, but are responsible for enhancing or reducing the activity of certain genes. (embl.org)
An important class of epigenetic changes are modifications to the DNA-protein complex, known as chromatin. (embl.org)
By showing that epigenetic changes may prime endothelial cells to differentiate into smooth muscle cells, which would then obstruct arteries, it also raises the question of what exactly triggers this huge rearrangement. (embl.org)
Para -sulphonato-calix[4]arene, SC4, known for epigenetic activity by interacting specifically with the lysine groups of histone proteins, was studied for its effect on an artificial chromatin. (nature.com)

A diagram showing the major cancer genes for some cancers. (cancerquest.org)

This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)
Thefull-length bc10 cDNA contains a complete open reading frame (ORF) of 263 bp and encodes a protein composed of 87 amino acids that has no homology to any of theknown protein families. (embl-heidelberg.de)

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 protein product of MAX contains the basic helix-loop-helix and leucine zipper motifs. (wikipedia.org)

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)
This can be compared to the effects of the histone proteins, H1, H2A, H3 where no changes in the mechanical properties of DNA were observed and the complex of the H3/H4 proteins where a smaller increase in the stiffness is observed (0.2 N m −1 ). (nature.com)
At the cellular level SC4 blocks the interaction between the protein reader Plant Homodomain and the trimethylated lysine 4 of Histone H3 methylated 12 . (nature.com)

Activates the transcription of growth-related genes. (arigobio.com)

However, gene transcription pathway analysis in small intestinal biopsies, obtained by gastroduodenoscopy, demonstrated that particularly L. plantarum TIFN101 modulated cell-cell adhesion with high turnover of genes involved in tight- and adhesion junction protein synthesis and degradation (e.g. actinin alpha-4, metalloproteinase-2). (wur.nl)
The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. (omnimabs.com)

Cellular DNA-binding proteins encoded by the rel gene (GENES, REL). (bvsalud.org)
Research over decades has revealed that each RBP has a distinct RNA binding specificity, mediated by RNA binding domain, and protein-protein interaction domains that mediate assembly of a unique constellation of RBPs on every RNA, thereby sculpting the RNA for processing and function by cellular machineries. (pendari.com)
Specialized cell structures called ribosomes are the cellular organelles that actually synthesize the proteins (RNA transcription). (cdc.gov)

The protein may be useful as a tumor marker. (cancerindex.org)
This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
The genes in the second group are called tumor suppressors. (cancerquest.org)
This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)

The homodimers and heterodimers compete for a common DNA target site (the E-box) in a gene promoter zone. (wikipedia.org)

These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)

MAX (also known as myc-associated factor X) is a gene that in humans encodes the MAX transcription factor. (wikipedia.org)
This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)
A Recurrent Activating Missense Mutation in Waldenström Macroglobulinemia Affects the DNA Binding of the ETS Transcription Factor SPI1 and Enhances Proliferation. (ox.ac.uk)
The transcription factor RBPJ forms a coactivator complex in the presence of a Notch signal, whereas it represses Notch target genes in the absence of a Notch stimulus. (uni-ulm.de)
The glucocorticoid receptor (GR) is a bona fide ligand-regulated transcription factor. (uni-ulm.de)
ISRIB (integrated stress response inhibitor) as a drug, imparts resistance to the cells against the downstream effects of eukaryotic initiation factor 2 (eIF2)α phosphorylation such as activating transcription factor 4 (ATF4) and eukaryotic translation initiation factor 4E (eIF4E)-binding protein 1 (4E-BP1) induction. (sigmaaldrich.com)
HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
These studies contribute to our knowledge of transcription factor defects and their pathogenesis in haploinsufficiency conditions. (elsevierpure.com)
In 2000, the International Incontinentia Pigmenti Consortium reported that incontinentia pigmenti is caused by a genomic rearrangement of the gene for NEMO, or nuclear factor kappa B essential modulator (IKBKG-IKK gamma). (medscape.com)
Activation of the transcription factor nuclear factor KB (NF-KB) requires the NEMO protein. (medscape.com)

Viral mRNAs also depend on host RBPs and hijack them for essential viral functions, such as translation to produce viral proteins. (pendari.com)

For example, most human tissues in healthy individuals acquire somatic nucleotide substitutions, insertions, deletions and DNA rearrangements, leading to the production of variant protein isoforms. (biorxiv.org)
Screening the CBP gene for larger deletions, by using different cosmid probes in FISH, showed 14/171 microdeletions. (bmj.com)

The whole mitogenome of O. conispadiceus is 16,027 basepairs (bp) in length with a base composition of 41.4% A, 34.8% T, 16.1% C, 7.7% G and contains 13 protein-coding genes, 2 ribosomal RNA genes, 22 transfer RNA genes, and a major non-coding region (MNR). (tonmo.com)

The transcriptionally regulated genes have different roles under stress response. (intechopen.com)

The 3 spliced mRNAs putatively encode good proteins , altogether 3 different isoforms (1 complete, 2 partial ), some containing a coiled coil stretch [Psort2] . (nih.gov)

NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. (abcam.com)

Most commonly, this approach leverages high-resolution mass spectrometric measurements of proteolyzed proteins, combined with tandem peptide fragmentation to match observed spectra with those expected from their amino acid composition. (biorxiv.org)
At the ribosome, the processed mRNA is translated to produce proteins from amino acid units. (cdc.gov)

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)

Many enzymes responsible for regulating protein and DNA modifications are targets of current therapies. (pendari.com)

It affects the DNA-binding affinity of the protein and allows the mutant protein to more frequently bind and activate promoter regions with respect to wild-type protein. (ox.ac.uk)
Using PCR generated, site-specific probes corresponding to the non-coding exons 1 and 2 and intron 2 of CHOP, rearrangements in five of seven tumors mapped to the 2.4 and 1.6 kbp PstI fragments that contain the first two exons and introns of the gene and the upstream promoter region. (lu.se)

Binds RNA and may function as a RNA chaperone to induce the RNA structural rearrangements taking place during virus replication (PubMed:18033802). (proteopedia.org)

However, recent studies in many organisms and in humans have revealed significant protein sequence variation due to the presence of somatically acquired genetic variants, alternative transcription, and mRNA splicing, which are not necessarily annotated in reference databases. (biorxiv.org)
The FUS protein is also involved in processing molecules called messenger RNA (mRNA), which serve as the genetic blueprints for making proteins. (medlineplus.gov)
The FUS protein also helps repair errors in DNA, which prevents cells from accumulating genetic damage. (medlineplus.gov)

All the 22 typical animal tRNA genes are found in M. sexmaculata mitogenome, and most of the tRNAs could be folded into the classic cloverleaf secondary structure. (scienceopen.com)

CBP is a large nuclear protein involved in transcription regulation, chromatin remodelling, and the integration of several different signal transduction pathways. (bmj.com)

However, multiple ATG codons through exons 5 to 7 of the fused RUNX1 sequence could be used as new start codons and generate truncated RUNX1 proteins. (atlasgeneticsoncology.org)
In 2002, Bardaro et al reported a second copy of the NEMO gene, deltaNEMO , which is 31.6 kb from exon 10 and contains exons 3-10. (medscape.com)

About 2000 completely sequenced mitochondrial genomes are available from the NCBI RefSeq data base together with manually curated annotations of their protein-coding genes, rRNAs, and tRNAs. (scienceopen.com)
Despite all efforts of manual curation it is still plagued by misassignments of reading directions, erroneous gene names, and missing as well as false positive annotations in particular for the RNA genes. (scienceopen.com)

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)

Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.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)
Proteins supported by a single continuous cDNA sequence lead to underlining the name/ending of the variant. (nih.gov)
With the recent and better knowledge on how gene regulation occurs and after intense debate in the academic community 1 , epigenetics has been commonly defined as "the study of changes in gene function that are mitotically and/or meiotically heritable and that do not entail a change in DNA sequence" 2 . (nature.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. (avivasysbio.com)

Multiple alternatively spliced transcript variants have been found for this protein. (cancerindex.org)

The protein has a molecular weight of approximately 16,000, contains a single copper atom, is intensively blue, and has a fluorescence emission band centered at 308nm. (lookformedical.com)

There are over 1,000 RBP-encoding genes in human cells and hundreds of RBPs, each with many isoform, expressed in a cell at any given time. (pendari.com)
In most organisms, Pol I exclusively transcribes rRNA genes, of which there are usually 100 to 1,000 copies arranged in tandem. (asm.org)

More recently the Max gene becomes mutated and becomes inactivated in small cell lung cancer (SCLC). (wikipedia.org)
The protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. (avivasysbio.com)
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
The FUS gene provides instructions for making a protein that is found within the cell nucleus in most tissues and is involved in many of the steps of protein production. (medlineplus.gov)
Once the FUS protein processes the mRNA, it transports the mRNA out of the nucleus where it gets taken up by other cell structures to be further processed into a mature protein. (medlineplus.gov)
It is unclear if protein aggregates cause the nerve cell death that leads to ALS. (medlineplus.gov)
this gene might fuse with another gene that could allow cell growth to continue at a rapid pace. (medlineplus.gov)
To understand the role of these changes in the disease, the Zaugg group developed a computational tool to reconstruct an enhancer-based gene regulatory network in a specific cell type, which they applied to their data. (embl.org)
The genes that have been identified to date have been categorized into two broad categories, depending on their normal functions in the cell. (cancerquest.org)
Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
Many of these genes are responsible for providing the positive signals that lead to cell division. (cancerquest.org)
The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)

Participates in the viral particle production as a result of its interaction with the non-structural protein 5A (By similarity). (proteopedia.org)
Cells depend on their DNA for coding information to make various classes of proteins that include enzymes, certain hormones, transport proteins, and structural proteins that support life. (cdc.gov)

By cutting and rearranging mRNA molecules in different ways, the FUS protein controls the production of different versions of certain proteins. (medlineplus.gov)
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)
The human body does not recognize the adult worms as foreign material because, although purified schistosomal tegumental protein is potently immunogenic [ 509 ], the adult parasites can remake their surfaces constantly and cover them with native molecules taken from the human host [ 510 ]. (nanomedicine.com)

The aim of this study was to investigate the effects of three Lactobacillus plantarum strains on in-vivo small intestinal barrier function and gene transcription in human subjects. (wur.nl)
The strains were selected for their differential effects on TLR signalling and tight junction protein rearrangement, which may lead to beneficial effects in a stressed human gut mucosa. (wur.nl)
reported finding a vaccine-derived nonstructural protein 2 (NSP2) gene in 2 wild-type RVA strains with a G1P[8] genogroup 1 backbone ( 6 ). (cdc.gov)
The G2P[4] strains from the 2010-11 season shared 97.6%-100% nt identity for the NSP2 gene, except for strain 2011729115, which exhibited only 86.8%-87.3% nt identity with the other circulating G2P[4] strains. (cdc.gov)
Over time, OspC genes were transferred between strains through recombinations involving the whole or parts of the gene and one or both flanks. (cdc.gov)

Anatomy9

Diseases8

Chemicals and Drugs34

Analytical, Diagnostic and Therapeutic Techniques and Equipment13

Phenomena and Processes45

Information Science3

Genome15

Mutations28

Chromosome9

Oncogene4

Caused by a chromosomal1

Chromosomes1

Factors13

Transcriptional9

Translocation1

Overexpression1

Chromosomal rearrangements1

Regulate6

Genomic rearrangements3

Oncogenic5

Recombination2

Expression24

Fusion7

Oncogenes6

Regulates4

Entrez Gene1

MRNA and protein1

Hematopoietic2

Sequences5

Differentiation4

Epigenetic8

Cancers1

Encodes a protein2

Progression1

Basic helix1

Histone3

Activates1

Synthesis2

Cellular3

Tumor4

Heterodimers1

Certain genes1

Factor10

Viral proteins1

Deletions2

Ribosomal1

Transcriptionally1

Isoforms1

RelA1

Amino acid2

Confer2

Targets1

Promoter2

Binds1

Genetic3

TRNA1

Nuclear1

Exons2

Annotations2

Bladder Cancer1

Sequence4

Cytoskeletal1

Variants1

Molecular Weight1

1,0002

Cell12

Structural2

Molecules3

Strains5