Sequencing genes regulator. Medical search. Frequent questions

Mutations in four genes have been identified in familial hemiplegic migraine (FHM), from which CACNA1A (FHM type 1) and SCN1A (FHM type 3) code for neuronal voltage-gated calcium or sodium channels, respectively, while ATP1A2 (FHM type 2) encodes the α 2 isoform of the Na + ,K + -ATPase's catalytic subunit, thus classifying FHM primarily as an ion channel/ion transporter pathology. (frontiersin.org)
FHM type 4 is attributed to mutations in the PRRT2 gene, which encodes a proline-rich transmembrane protein of as yet unknown function. (frontiersin.org)
Rare mutations in genome sequence that result from failed DNA repair are transmitted across generations through DNA replication during each cell division. (nature.com)
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
More than 50 percent of melanomas contain mutations in the BRAF gene, making BRAF the primary target of melanoma treatment. (yaledailynews.com)
Drugs such as vemurafenib and dabrafenib act on these oncogenic BRAF gene mutations by inhibiting BRAF kinases. (yaledailynews.com)
In vitro experiments have revealed some conserved patterns: intermediate convergence, epistatic interactions between beneficial mutations and mutations in global regulators. (datadryad.org)
Consistently with in vitro observations, the identified mutations revealed a strong pattern of convergence at the mutation, gene, operon and functional levels. (datadryad.org)
Yet, the rate of molecular evolution was lower than in in vitro and no mutations in global regulators were recovered. (datadryad.org)
Background De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. (bmj.com)
The associated human phenotype of de novo heterozygous mutations in this gene is variable, but moderate to severe neurodevelopmental delay and learning disability are common to all. (bmj.com)
CFTR variants can involve frameshift (a deletion or insertion in a DNA sequence that shifts the way a sequence is read) or nonsense (stop) mutations. (msdmanuals.com)

We also examined which genes may be critical for ATAA by performing the integrative analysis of our single-cell RNA sequencing data with publicly available data from genome-wide association studies. (nih.gov)
In addition, integrative analysis of our single-cell RNA sequencing data with public genome-wide association study data and promoter capture Hi-C data suggested that the erythroblast transformation-specific related gene( ERG ) exerts an important role in maintaining normal aortic wall function. (nih.gov)
Approximately 3% of the human genome codes for miRNA sequences, which can suppress gene expression by mediating translational repression [ 5 ]. (hindawi.com)
To pursue this question, the researchers have completely sequenced the genome of the Iberian mole ( Talpa occidentalis ) for the first time. (charite.de)
Unlike such genetic changes, epigenetic changes, which do not alter genome sequence, can result in three possible outcomes: passive dilution, active repair through negative feedback, or active maintenance through positive feedback. (nature.com)
EGFRIII changes the cell's internal signaling network, its uptake and use of nutrients, key elements of its gene-reading machinery known as transcription factors and its epigenetic landscape--the distribution of chemical tags that determines which parts of its genome are available for reading. (sciencedaily.com)
Even though diverse strains of S. aureus have been extensively studied, and subjected to genome sequencing, the function of a large proportion of their genes remains unidentified. (biomedcentral.com)
An international research effort called the Human Genome Project, which worked to determine the sequence of the human genome and identify the genes that it contains, estimated that humans have between 20,000 and 25,000 genes. (medlineplus.gov)
With the help of an analytical approach called a "likelihood ratio test for quantitative traits" (LRT-q), the investigators analyzed whole-genome sequence and RNA sequence data spanning samples from 49 tissue types in nearly 700 Genotype-Tissue Expression (GTEx) project participants of European ancestry, highlighting genes with particularly pronounced expression patterns or disease associations that appeared to be regulated by rare rather than common variants. (genomeweb.com)
Experimental evolution coupled with whole genome sequencing can provide insights of the adaptive process. (datadryad.org)
Breaks and rearrangements in the genome can lead to severe diseases, even if all genes remain intact. (mpg.de)
In some cases, even sequencing the entire genome does not help. (mpg.de)

The promoter regions of many interferon-inducible genes share a short DNA sequence motif, termed the interferon consensus sequence (ICS) to which several regulatory proteins bind. (johnshopkins.edu)
RNP-CS proteins display binding preferences for specific RNA sequences, and several have been shown to interact with pre-mRNA sequences important for pre-mRNA processing. (the-scientist.com)
Brg1 (Brahma-related gene 1) is an ATPase subunit of SWI2/SNF2-like chromatin-remodeling complexes that enable access of regulatory and effector proteins in transcription, DNA repair and DNA replication. (thermofisher.com)
The predicted structures of the Gimap proteins show common sequences and motifs, such as GTP-binding domains in the N-terminal half, but with differing C-terminal ends [ 2 , 3 ]. (hindawi.com)
The fact that the Gimap genes are located together in a tight cluster on RNO4 (and in conserved synteny with many other species), combined with their sequence similarities, suggests the possibility that the proteins carry out similar function. (hindawi.com)
More than half of all human genes are alternatively spliced, so it is expected that alternative pre- mRNA splicing will be responsible for the identification of more than 90 percent of all human proteins. (genomicglossaries.com)
Polycomb Group (PcG) of proteins compact chromatin keeping genes in a repressed state. (chicagobiomedicalconsortium.org)
8 , 9 The protein is a member of a novel family of large proteins, which show sequence homology to the catalytic domain of phosphatidylinositol 3 kinase, 3 and are implicated in cell cycle regulation, signal transduction, and the response to DNA damage. (bmj.com)
Some genes act as instructions to make molecules called proteins. (medlineplus.gov)
However, many genes do not code for proteins . (medlineplus.gov)

Cells extracted from aortic tissue were analyzed and categorized with single-cell RNA sequencing data to perform cluster identification. (nih.gov)
Most DEGs were expressed in human β-cells based on single-cell RNA-sequencing data. (lu.se)

transcriptional regulator ERG. (nih.gov)
Finally, we discovered PAX5 as a potential transcriptional regulator of many T2D-associated DEGs in human islets. (lu.se)
Probable transcriptional regulator protein that binds to DNA as dimer and tetramer, but not as a monomer. (lu.se)

This specific project aims to identify sequences within caveolin involved in regulation of raft internalisation, cell cycle progression and anchorage-dependent cell growth. (europa.eu)
Although Brg1-containing complexes are not essential for general cell survival, they participate in transcriptional regulation of several hundred genes including those involved in interferon and stress response, immune cells differentiation, neurogenesis, cell cycle etc. and is absolutely necessary for mouse embryogenesis. (thermofisher.com)
The loss of iron led to a approximately 2.5-fold decrease in DNA-binding affinity, indicating that iron was directly involved in SRE1 regulation of iron-uptake genes. (nih.gov)
The transparent testa and other Arabidopsis seed color mutants have greatly accelerated the cloning of genes in the PA biosynthetic pathway and understanding spatiotemporal regulation of flavonoid production. (usda.gov)
To better understand the regulation of PA biosynthetic genes in alfalfa, expression of genes involved in PA biosynthesis is being compared over time (2-34 days post-pollination) in developing seeds from alfalfa plants with wildtype tan-colored seed coats and dark brown-colored seed coats (UMN2163). (usda.gov)
Finally, we examine the conservation of 135 USA300 TFs amongst 11 other S. aureus strains, identifying a key group of regulators that display a high degree of conservation, including many that have previously been demonstrated to play a role in virulence gene regulation. (biomedcentral.com)
A team from the US and Korea documents rare variants with apparent ties to gene expression regulation across dozens of human tissue types for another paper in PLOS Genetics . (genomeweb.com)
In addition to classical gene regulatory networks noted above, we have recently identified a central role for additional biologic mechanisms, namely gene regulation by chromatin regulators and by noncoding RNAs. (stanford.edu)

Title : Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis Personal Author(s) : Hendrix, Miyono M.;Foster, Stephanie L.;Cordovado, Suzanne K. (cdc.gov)
Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. (msdmanuals.com)
Treatment is supportive through aggressive multidisciplinary care along with small-molecule correctors and potentiators targeting the cystic fibrosis transmembrane conductance regulator protein defect. (msdmanuals.com)
It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). (msdmanuals.com)

Molecular neuroscience has largely focused on the functions of protein-coding genes, which account for less than 2% of our DNA. (lu.se)

Presence of type coccus aureus (CA-MRSA) is responsible for severe V cassette, TSST-1, and exfoliatin toxins was assessed by infections related to carriage of exotoxins such as the Pan- using specifi c oligonucleotides (sequences are available at ton-Valentine leukocidin (PVL), toxic shock syndrome www.genomic.ch/sup6.php). (cdc.gov)
3 , 4 The ATM gene is located at 11q22-23, spans 184 kb of genomic DNA, and has 66 exons. (bmj.com)

Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. (wikipedia.org)
MedlinePlus Genetics provides consumer-friendly gene summaries that include an explanation of each gene's normal function and how variants in the gene cause particular genetic conditions. (medlineplus.gov)
These results demonstrate the functional effects of rare variants, especially on gene expression," they report, "which provides important biological insights in understanding the genetic mechanism of rare variants in complex traits and diseases. (genomeweb.com)
Identification of DNA sequence variants and genes that influence different aspects of human hematopoiesis. (lu.se)
This includes variants in sequences that regulate messenger RNA (mRNA) splicing and synonymous variants that lead to a change between two codons for the same amino acid, thereby not directly altering the protein-coding sequence. (lu.se)
Especially in familial breast cancer we believe that the chances of finding previously overlooked variants in known high-risk genes are higher than to find new, rare risk loci. (lu.se)

The derived sequence of H-ICSBP reveals restricted homology within the first 120 amino acids to three other interferon regulatory factors, IRF-1, IRF-2, and ISGF3γ. (johnshopkins.edu)
Ddit3 emerges as a regulatory node with positive linkage to erythroid regulators and negative association with myeloid determinants. (lu.se)
The current research seeks to get around the obvious problems with the fishy identity of Tiktaalik by experimenting with the regulatory genes of various animals to see if they are interchangeable. (answersingenesis.org)
Certain regulatory elements might become associated with another gene and hence activate it in other tissues. (charite.de)
In the nucleus, genes and their associated control sequences form regulatory domains - relatively isolated "neighborhoods" consisting of large regions where DNA sections interact frequently with each other. (charite.de)
Here we report that a minimal combination of cis- regulatory sequences can support permanent RNA silencing of a single-copy transgene and its derivatives in C. elegans simply upon mating. (nature.com)
Recovery is also observed in most cases when double-stranded RNA is used to silence the same coding sequence in different regulatory contexts that drive germline expression. (nature.com)
Illumina is currently appealing regulatory orders in the U.S. and EU, which are asking the gene sequencing company to divest Grail after it jumped regulators to close its acquisition of the cancer test maker. (theglobeandmail.com)
In this context, DNA-binding transcription factors (TFs) play an important regulatory role by either repressing or activating genes in response to environmental and physiological conditions. (biomedcentral.com)
We are currently pursuing studies of the dominant signaling and gene regulatory networks that control this process, including the Ras/MAPK cascade, which is required for stem cell-mediated self-renewal and the p53 transcription factor family member, p63, which is required for epidermal differentiation. (stanford.edu)
The Crop Protection Association has said that the slow rate of regulatory adaptation in gene editing, biotech and more traditional plant protection products is threatening investors' interest in UK agri-tech as a whole. (farmersguardian.com)

PCR2 targets genes that are developmentally regulated and catalyzes di- and histone tri-methylation, resulting in chromatin compaction and gene repression. (chicagobiomedicalconsortium.org)

Several studies have confirmed that miRNA can be used as an oncogene or tumor suppressor gene to regulate the occurrence and development of gastric cancer [ 6 ]. (hindawi.com)
miR-149 is a type of miRNA, which can regulate the biological functions of tumors by targeting multiple genes, such as TGF- β 2, GIT1, and HDAC4 [ 7 - 9 ]. (hindawi.com)
Biologists Neil Shubin and Igor Schneider have swapped genes which regulate limb and fin development between living fish and mice. (answersingenesis.org)
Several genes involved in different aspects of stem cell activation are being studied, including some that transduce initial signals, and others that regulate self-renewal and differentiation. (chicagobiomedicalconsortium.org)
Noncoding RNA sequences can regulate gene expression via interactions with epigenetic and other control mechanisms. (stanford.edu)

The enrichment of Gata2 target genes in Ddit3-dependent transcriptional responses suggests that Ddit3 functions in an erythroid transcriptional network nucleated by Gata2. (lu.se)

Together, this dataset provides a resource for immunologists that can be integrated with future single-cell immune repertoire and transcriptome sequencing datasets. (nature.com)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)

C chromosome mec (SCC mec ) elements, accessory gene reg- ommunity-associated methicillin-resistant Staphylo- ulator group, and the PVL gene ( 10,11 ). (cdc.gov)
Positional cloning of lymphopenia ( lyp ) in the BB rat revealed a frameshift mutation in Gimap5 , a member of at least seven related GTPase Immune Associated Protein genes located on rat chromosome 4q24. (hindawi.com)
Gimap5 is a member of at least seven related GTPase Immune Associated Protein ( Gimap ) genes located within 150 Kilobases (Kb) on rat chromosome (RNO) 4 [ 2 , 3 ]. (hindawi.com)
Gimap5 was identified as the lyp gene in the BBDP rat through a frameshift mutation and premature truncation of the Gimap5 protein [ 2 , 6 ] and can be rescued in a P1-derived artificial chromosome (PAC) transgenic rat [ 7 ]. (hindawi.com)
Each chromosome contains many genes. (medlineplus.gov)
While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (mpg.de)
Birt-Hogg-Dubé syndrome is caused by a mutation in the folliculin ( FLCN ) gene that has been mapped to the short arm of chromosome 17, specifically 17p11.2. (medscape.com)
The responsible gene has been localized on the long arm of chromosome 7. (msdmanuals.com)

In the study, a large-scale RNA screen was conducted to pinpoint epigenetic regulators - which alter gene activity and expression but are not part of the DNA sequence - involved in melanoma resistance. (yaledailynews.com)
According to Gupta, a library of 363 known epigenetic regulators served as potential candidates for melanoma resistance, and the one seen most often in melanoma resistance was BOP1. (yaledailynews.com)
The function of histone modifying epigenetic regulators and noncoding RNA as central mediators of epithelial stem cell renewal and differentiation represent major emerging areas of study in the lab. (stanford.edu)

In summary, we identify myostatin propeptide as a novel positive regulator of primitive CML cells and corresponding normal hematopoietic cells. (haematologica.org)
Therefore, ICSBP may be involved in maintaining submaximal transcriptional activity of IFN-inducible genes in hematopoietic cells. (johnshopkins.edu)

This now enables investigation of how parameters such as clonal expansion relate to gene expression phenotypes [ 28 ], thereby providing novel insights not accessible by bulk sequencing (e.g. (nature.com)

Expression of SRE1 was reduced under iron-starving conditions, underscoring its role as a negative regulator of genes involved in iron uptake. (nih.gov)

Our data substantiates the Gimap5 frameshift mutation as the primary defect with only limited contributions to lymphopenia from the remaining Gimap genes. (hindawi.com)
Positional cloning of the lyp gene revealed a frame shift mutation in Gimap5 (previously known as Ian5 or Ian4L1 ). (hindawi.com)
The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)

Our aim was to clone and sequence the cDNA of the BB diabetes prone (DP) and diabetes resistant (DR) alleles of all seven Gimap genes in the congenic DR. lyp rat line with 2 Mb of BB DP DNA introgressed onto the DR genetic background. (hindawi.com)
The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. (nih.gov)
The idea would be to control this regulator in industrial cell lines using genetic engineering, paving the way for safe industrial production of heparin in well-controlled cell culture. (eurekalert.org)
The situation is more complex when it comes to patents that in some way claim genes isolated, extracted or derived from viruses and related genetic information, or that claim potentially new uses or applications of genes or genetic information. (who.int)
In some countries laws specifically provide that isolated genetic material, such as gene sequences, may be considered patentable inventions (as long as they meet the other criteria for the granting of a patent) even if corresponding genes occur in nature. (who.int)
This situation typically arises when it is considered that the isolated gene or genetic material may serve a distinct useful purpose. (who.int)
The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
More information about how genetic conditions and genes are named is also available from MedlinePlus Genetics. (medlineplus.gov)
Yet campaigners persuaded EU regulators to lump gene-editing in with a ban on the rather different concept of genetically modified organisms (GMOs) where genetic sequences are moved between species. (farmersguardian.com)
In this project we explore an innovative, population-genetic approach to find regulators of blood cell formation. (lu.se)
Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Identification of kidney mesenchymal genes by a combination of microarray analysis and Sall1-GFP knockin mice. (jax.org)
Using single-cell RNA sequencing (RNAseq), we studied the development of ProSG, their SG descendants and testicular somatic cells during the perinatal period in mice. (biologists.com)
In the mice, fish regulators were able to switch on limb development. (answersingenesis.org)
And in fish, mice regulators were able to turn on fin development. (answersingenesis.org)
In mice, the activation of the CYP17A1 gene by a regulator leads to the production of testosterone. (charite.de)
To address this and to also study the oncogenic potential of unregulated function of dominant regulators of epithelial homeostasis noted above, we developed Multi-Functional Human Tissue Genetics noted above which, when combined with skin tissue regeneration on immune deficient mice, has permitted the molecular reconstruction of events sufficient to trigger human cancer. (stanford.edu)
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)

Sre1 had sequence similarity to the fungal negative regulators of siderophore biosynthesis. (nih.gov)
Included on the macroarray are 32 cDNAs for enzymes in the flavonoid biosynthetic pathway, including enzymes involved in isoflavonoid, lignin, anthocyanin, and PA biosynthesis, 14 cDNAs with sequence similarity to myb-like and myc-like transcription regulators, and 8 cDNAs of seed storage protein genes. (usda.gov)

This stable silencing requires components of the small RNA pathway and can silence homologous sequences in trans . (nature.com)

The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. (nih.gov)
This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)

We report here that SRE1, a gene encoding a GATA-type protein, bound to promoter sequences of genes involved in siderophore biosynthesis. (nih.gov)
In particular, the researchers found a critical gene in heparin biosynthesis: ZNF263 (zinc-finger protein 263). (eurekalert.org)

They also found that the amplicons were similar in size distribution to the parent cDNA and showed sequence heterogeneity. (genomicglossaries.com)

Loss of Tada2b or Taf5l inhibited hematopoiesis in vivo and was associated with upregulation of interferon response gene expression. (biorxiv.org)

The interlinked phenomena, the team reports, are reflected in a global database of the genes expressed in GBM cells and seen in tumors expressing EGFRvIII obtained from GBM patients. (sciencedaily.com)
Additional screens for MMTV provirus entry sites in tumors revealed several other upregulated genes that are associated with other gene development pathways such as INT2, INT3, and INT4 [4,5,6]. (chemdiv.com)

We identified three undifferentiated SG subsets at postnatal day 7, each of which expresses distinct genes, including transcription factor and signaling genes. (biologists.com)
The existence of such a binding site could indicate that the respective gene is regulated by a corresponding gene regulator protein, i.e. a transcription factor. (eurekalert.org)
One DNA sequence that stood out the most is preferred by a transcription factor called ZNF263 (zinc-finger protein 263)," explains UC San Diego professor Nathan E. Lewis, who holds appointments in the UC San Diego School of Medicine's Department of Pediatrics and in the UC San Diego Jacobs School of Engineering's Department of Bioengineering. (eurekalert.org)
One protein that is shrouded in mystique is SOX17, which is a transcription factor - a protein that controls whether a gene is active and regulates activities. (iflscience.com)

We also described the phylogenetic relationships among these species which were analyzed using ribosomal RNA and other gene sequences. (usda.gov)
Some gene regulators work across species lines, but that does not prove evolution happened. (answersingenesis.org)

We describe the first report of RNA sequencing of 5' capped (Pol II) RNAs isolated from acutely hepatitis C virus (HCV) infected Huh 7.5 cells that provides a general approach to identifying differentially expressed annotated and unannotated genes that participate in viral-host interactions. (mdpi.com)
MicroRNAs (miRNAs) are noncoding RNAs of approximately 22 nucleotides, which are key regulators of gene expression [ 4 ]. (hindawi.com)
Endogenous antisense RNAs function as regulators of gene expression by a variety of mechanisms. (genomicglossaries.com)
Synthetic antisense RNAs are used to effect the functioning of specific genes for investigative or therapeutic purposes. (genomicglossaries.com)

H-ICSBP shares high sequence homology with its murine cognate. (johnshopkins.edu)

Interestingly, analysis of gene expression data from human white blood cells showed suppression of ZNF263 in mast cells (which produce heparin in vivo) and basophils, which are related to mast cells. (eurekalert.org)

Alleles are forms of the same gene with small differences in their sequence of DNA bases. (medlineplus.gov)

The team concluded that a common ancestor from Tiktaalik's time evolved the needed genes for limb development and passed them down through the ages. (answersingenesis.org)

Using technology developed in Ren's laboratory, the researchers began by profiling EGFRvIII's specific epigenetic activation of DNA sequences known as "enhancers. (sciencedaily.com)
To find out if this potentially therapeutic effect might be induced by a drug, the researchers examined the genes whose expression is controlled by SOX9 and FOXG1. (sciencedaily.com)
The researchers believe this gene regulator is a key discovery on the way to industrial heparin production. (eurekalert.org)
Researchers at UC San Diego reasoned that heparin synthesis must be under the control of certain gene regulators (called transcription factors), whose tissue-specific occurrence might give mast cells the unique ability to produce heparin. (eurekalert.org)
Using the gene-editing technology, CRISPR/Cas9, the UC San Diego researchers mutated ZNF263 in a human cell line that normally does not produce heparin. (eurekalert.org)
Researchers are now trying to conduct large-scale screens that employ many genes and epigenetic factors in an unbiased fashion," she added. (yaledailynews.com)
Birmingham University researchers recently led an international wake-up call to regulators stressing that gene editing and other new technologies contribute to food security. (farmersguardian.com)

More specifically, antisense oligonucleotides that are useful as reagents for target validation , or as drugs, are engineered molecules that differ from natural RNA but that have a base sequence that is recognized as being complementary to a very specific mRNA sequence. (genomicglossaries.com)

Regulators like enhancers often act tissue-specific and activate their corresponding genes accordingly. (charite.de)
Most of the enhancers activated by EGFRvIII bore signature DNA sequences that are bound by dozens of transcription factors--regulators of gene expression--expressed at high levels in GBM. (sciencedaily.com)

The most highly conserved motif within the RBD is the ribonucleoprotein consensus sequence (RNP-CS). (the-scientist.com)

FLNC is a tumor suppressor gene, but the manifestations of Birt-Hogg-Dubé syndrome appear to have several mechanisms of activation. (medscape.com)
Pradella et al suggest that FLCN may not always follow a classic two-hit model of tumorigenesis and may alternatively be a noncanonical tumor suppressor gene. (medscape.com)

Even if all genes remain intact after a chromosomal break, serious problems may occur. (mpg.de)
The team examined clinical samples from blood, skin and amniotic fluid of nine patients with chromosomal breaks but without damage to known genes. (mpg.de)

The roles of b-catenin are 'classically' defined: as an adhesion protein and as a signaling protein, transducing extracellular signals to the nucleus to modify gene expression. (chemdiv.com)

Epigenetic control of gene expression lasts through multiple cell divisions without alterations in primary DNA sequence and can occur via mechanisms that include histone modification and DNA methylation. (stanford.edu)

The team used RNA-sequencing, knockdown and overexpression studies to uncover the answer. (iflscience.com)
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)

The positional cloning and subsequent identification of the Gimap5 gene on RNO4 were in part established through generation of the DR. lyp congenic rat line along with recombination events following our method of marker assisted breeding of DP with F344 rats [ 2 , 4 , 5 ]. (hindawi.com)

We performed single-cell RNA sequencing analysis of ascending aortic tissues from 11 study participants, including 8 patients with ATAA (4 women and 4 men) and 3 control subjects (2 women and 1 man). (nih.gov)
ATAA-related changes were then examined by comparing the proportions of each cell type and the gene expression profiles between ATAA and control tissues. (nih.gov)
Integrins are key regulators of gene expression, cell proliferation and migration. (europa.eu)
Recent advances in single-cell sequencing enable recovery of the complete adaptive immune receptor sequences in addition to transcriptional information. (nature.com)
Practical considerations such as the necessary cost and time required to generate and analyze each single-cell sequencing sample has been a limitation to performing large-scale experiments (i.e., with many samples). (nature.com)
At this time, there is a paucity of information as to the expression of the Gimap genes in specific cell types. (hindawi.com)
It possesses a unique forkhead domain combined with a fragment of the target gene to initiate transcription [ 10 ] and regulates various biological processes such as tumor cell differentiation, cell proliferation, and migration [ 11 ]. (hindawi.com)
We identified both gene and protein markers for three temporally distinct ProSG cell subsets, including a migratory cell population with a transcriptome distinct from the previously defined T1- and T2-ProSG stages. (biologists.com)
This process is mediated by 2 mutually exclusive programs of gene expression: 1) an undifferentiated program supporting proliferation by stem cells within the basal layer and 2) a differentiation program instructing growth arrest and differentiation-associated programmed cell death in suprabasal layers. (stanford.edu)

87(5): 1663-1667] Specifically, the investigators started by priming whole cerebellar RNA with a synthetic oligonucleotide containing a T7 RNA polymerase promoter sequence. (genomicglossaries.com)

IFN treatment would then alleviate repression allowing maximal transcriptional activity of these genes. (johnshopkins.edu)

In this work, using diverse sequence analysis, we evaluated the repertoire of TFs and sigma factors in the community-associated methicillin resistant S. aureus (CA-MRSA) strain USA300-FPR3757. (biomedcentral.com)
A comparison of the TF repertoire of S. aureus against 1209 sequenced bacterial genomes was carried out allowing us to identify a core set of orthologous TFs for the Staphylococacceae , and also allowing us to assign potential functions to previously uncharacterized TFs. (biomedcentral.com)
We have evaluated the orthologous distribution of these elements in other sequenced bacterial genomes using the repertoire of TFs identified in USA300, and identified a core set of regulators for both the Firmicutes phylum, and the Staphylococacceae group. (biomedcentral.com)

Simultaneous work in the field of developmental biology and work with Drosophila has established the INT1 gene is a homologue of the Drosophila segment polarity gene [2]. (chemdiv.com)
Methods The Deciphering Developmental Disorders study is using whole exome sequencing in family trios to investigate children with severe, sporadic, undiagnosed developmental delay. (bmj.com)

To identify regulators of primitive chronic myeloid leukemia (CML) cells, we performed a high-content cytokine screen using primary CD34 + CD38 low chronic phase CML cells. (haematologica.org)

Phylogenetic analysis based on gene sequences, in particular, ribosomal sequences, has provided the major supporting evidence for the composition and taxonomic subdivision of this group of organisms with diverse habitats and ecology and has become the mainstream for the Acholeplasmataceae systematics. (usda.gov)
Philipp Spahn, a project scientist in Nathan Lewis' lab in the Departments of Pediatrics and Bioengineering at UC San Diego, described further directions the team is pursuing: "Our bioinformatic analysis revealed several additional potential gene regulators which can also contribute to heparin production and are now exciting objects of further study. (eurekalert.org)
Overall, we show that "evolve and sequence" approach coupled to an analysis of convergence, when applied to a natural isolate, can be used to study adaptation in vivo and uncover the specific selective pressures of that environment. (datadryad.org)
Now, through RNA -sequencing analysis, a research team has analyzed these clusters to reveal a bit more about SOX17's role. (iflscience.com)
One gene that stood out during RNA-sequencing analysis was Rasip1 ," explains first author Gerel Melig, from the Tokyo Medical and Dental University (TMDU), in a statement . (iflscience.com)
Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.org)

Targeting ∼7000 genes with this methodology, we discovered SAGA complex members Tada2b and Taf5l as key regulators of HSC lineage commitment. (biorxiv.org)

GXD's primary emphasis is on endogenous gene expression during development. (jax.org)

Because alternative RNA splicing allows different types of mRNA molecules to be created from a single gene, it generates the diversity of protein function and structure that is essential to complex organisms. (genomicglossaries.com)
RNA molecules which hybridize to complementary sequences in either RNA or DNA altering the function of the latter. (genomicglossaries.com)

We study this in both sporadic and familial breast cancer, where our work can lead to improvements in the interpretation of clinical sequencing data. (lu.se)

High- fidelity mRNA amplification for gene profiling. (genomicglossaries.com)
A complementary RNA sequence that binds to a naturally occurring (sense) mRNA molecule, thus blocking its translation. (genomicglossaries.com)
Highly specific and effective gene silencing of any disease can be achieved by an accurate knowledge of the target mRNA sequence and rational design of its complementary antisense agents for the downregulation of its protein message. (genomicglossaries.com)

Within topologically associating domains, genes and their regulators interact with each other (represented by triangular shapes). (charite.de)

The Centre for Genetics Education offers a fact sheet that introduces genes and chromosomes . (medlineplus.gov)
The Virtual Genetics Education Centre, created by the University of Leicester, offers additional information on DNA, genes, and chromosomes . (medlineplus.gov)

This amino acid sequence is conserved in organisms as diverse as yeast and humans. (the-scientist.com)

Our study provides a comprehensive evaluation of the cellular composition of the ascending aortic wall and reveals how the gene expression landscape is altered in human ATAA tissue. (nih.gov)

Anatomy9

Organisms14

Diseases4

Chemicals and Drugs64

Analytical, Diagnostic and Therapeutic Techniques and Equipment50

Phenomena and Processes113

Disciplines and Occupations4

Information Science9

Health Care4

Mutations13

Genome12

Proteins10

Single-cell RNA sequ2

Transcriptional regulator3

Regulation8

Cystic fibrosis4

Protein-codin1

Genomic2

Variants6

Regulatory11

Chromatin1

Regulate5

Target genes1

Datasets2

Chromosome8

Epigenetic regulators3

Hematopoietic cells2

Phenotypes1

Negative regulator1

Mutation3

Genetic11

Mice7

Similarity2

Homologous1

Encodes a protein2

Biosynthesis2

CDNA1

Interferon1

Tumors2

Transcription factor4

Species2

RNAs4

Homology1

Interestingly1

Alleles1

Limb1

Researchers7

Base Sequence1

Enhancers2

Consensus Sequence1

Tumor supp2

Chromosomal2

Nucleus1

Methylation1

Overexpression2

Identification1

Cell9

Promoter1

Repression1

Repertoire3

Developmental2

Chronic myeloid1

Analysis6

Lineage1

Endogenous1

Molecules2

Familial1

MRNA3

Interact1

Genetics2

Amino acid seq1

Human1