Gene expression sequence deletion. Medical search. Frequent questions

BWS is a pediatric cancer predisposition disorder caused by changes in the imprinted gene loci on chromosome 11p15. (medscape.com)
Genetic changes include mutations, gene silencing through epigenetics, gene amplification or deletion and whole chromosome gains or losses. (bmj.com)
More likely, the changes on chromosome 17 affect the expression of distant genes, Zhang's team suggests. (newscientist.com)
Albers and colleagues applied high-throughput sequencing in 5 unrelated patients with TAR syndrome and the chromosome 1q21.1 deletion. (medscape.com)
Identify the causative DNA sequence variant(s) on chromosome X and define frequency and effect on CRC risk by comparing CRC cases and controls. (ukri.org)
The identification of chromosome 1 translocations and deletions is a rare and poorly investigated event in chronic lymphocytic leukemia (CLL). (cancerindex.org)
And there is mounting evidence that molecular features such as IDH1/2 mutation status and chromosome 1 and 19 co-deletions can provide clues to glioma patient outcomes. (genomeweb.com)
Among them: tumors containing IDH1/2 mutations alongside chromosome 1 and 9 co-deletions and two clusters of IDH1/2-mutated tumors without the chromosome co-deletions. (genomeweb.com)
EVC2 and another gene, EVC , are located very close together on chromosome 4. (medlineplus.gov)
The responsible gene has been localized on the long arm of chromosome 7. (msdmanuals.com)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)

BWS can also be caused by mutations in the genetic sequence, deletions, duplications in the region or chromosomal rearrangements. (medscape.com)
Large deletions/ duplications, large insertions and other complex genetic events will not be identified using sequencing methodology. (cincinnatichildrens.org)
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. (lu.se)

CDKN1C , or cyclin-dependent kinase inhibitor 1C, is a gene that encodes a protein implicated in cell cycle regulation. (medscape.com)
This chromatin remodelling activity is associated with regulation of gene expression in heterochromatin regions of plant and mammal chromosomes and with the cellular response to DNA damage. (imperial.ac.uk)
14 ). It is important to identify the transcription factors involved in regulation of these genes to reveal potential avenues for modulating transcriptional programs that could be dysfunctional in PD. (nature.com)
Alterations in gene sequence or expression can occur in the cell-signalling and regulatory pathways involved in cell-cycle control, apoptosis, proteosome regulation and angiogenesis. (bmj.com)
In the present study, a 419 bp upstream sequence of the phycocyanin b subunit ( cpcB ) gene from Arthrospira platensis FACHB341 was fused with green fluorescent protein ( gfp ) gene, and a heterologous reporting system was built up to investigate the influence of light intensity on the expression of gfp gene, and the regulation function of different region of the upstream sequence of cpcB gene. (ejbiotechnology.info)
Epigenetic changes are not of the 'classical' genetic kind, caused by mutations in genes, but arise instead from changes in regulation that switch genes on or off without changing the underlying DNA sequence. (tecan.com)
Examples of mechanisms that produce such epigenetic changes in gene regulation include DNA methylation and histone modification - histones are proteins around which DNA is wound more or less tightly to regulate gene expression. (tecan.com)
While BRCA2 expression is involved in cell cycle checkpoints and DNA repair, the mechanisms of cell cycle-dependent regulation of BRCA2 gene expression remains elusive. (biomedcentral.com)
We divide the field of genomics into genotyping (focused on the genome sequence), transcriptomics (focused on genomic expression) and epigenomics (focused on epigenetic regulation of genome expression). (bmj.com)
With the help of CNV profiles and fusions found with RNA sequence data, the researchers also verified glioma driver mutations described previously and tracked down new driver candidate genes in pathways related to chromatin regulation and Ras-Raf-MEK-ERK signaling. (genomeweb.com)
Non-coding regions are known to regulate gene expression, and the finding indicates that alterations in regulation networks play a larger role in disease risk than protein-coding variants. (jax.org)
The team used massively parallel reporter assays (MPRA) to assess the effects of variants on gene expression in cultured MIN6 mouse β cells, which have been found to accurately model the regulation networks found in human islet cells. (jax.org)

Studies of tumours at relapse have demonstrated expression of a T790M mutation in exon 20 of the EGFR TK domain in approximately 50% of cases. (bmj.com)
PCR-based sequencing of entire coding region, intron/exon boundaries, as well as known pathogenic variants (HGMD 2017.3) in the promoter and deep intronic regions of the specified gene(s). (cincinnatichildrens.org)
A 14 bp insertion/deletion polymorphism exists in exon 8 of the HLA-G gene. (ruc.dk)
Other polymorphisms, besides the 14 bp polymorphism (rs66554220), in the 3′-untranslated region (3′-UTR) (exon 8) of the HLA-G gene might be associated with severe pre-eclampsia, especially in primiparas. (ruc.dk)
In dystrophin-deficient mice we find that co-injection of an exon skipping PMO with miR-146a but not a control sequence reduces the extent of dystrophin positive fibers. (gene-tools.com)
To test the hypothesis that miR-146a is inhibitory to exon skipping dystrophin restoration, we generated a novel DMD double knockout mouse model with body-wide miR-146a deletion ( 146aX mice) and administered an exon 51 skipping PMO into the tibialis anterior (TA) muscles of mdx52 and 146aX mice. (gene-tools.com)
These data demonstrate genetic deletion of miR-146a is sufficient to increase dystrophin rescue via exon skipping. (gene-tools.com)
Single clones were isolated and analyzed by DNA sequencing of GSAP exon 16. (estme.org)
Treatment with the specific EGFR tyrosine kinase inhibitors (TKI) gefitinib or erlotinib or the EGFR inhibitory antibody cetuximab induced apoptosis of HCC827, a NSCLC cell line with EGFR gene amplification and an exon 19 deletion. (vumc.org)
Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling. (lu.se)
Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema. (lu.se)
A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema. (lu.se)

We have also identified an alternate start codon for matK in some plant species that buffers indels (insertions and deletions) in the open reading frame (ORF) that are not in multiples of three in the gene sequence. (vt.edu)
The team identified 75 significantly mutated genes based on point mutations and small insertions and deletions data - a set that included 45 genes not linked to glioma in the past. (genomeweb.com)

As we recently reported, analysis of 77 FHWT by whole genome sequencing (WGS, 58 patients) or whole exomic sequencing (WES,19 patients) identified 825 high-quality somatic, non-synonymous variants, with an average of 11 candidate mutations/case (range 2-42) (ref. 6 ). (nature.com)
Six variants (all identified by WGS) involved MLLT1 , a gene not previously reported to be involved in WT. (nature.com)
Each mutation was verified by Sanger sequencing of PCR products spanning the variants ( Fig. 1 ). (nature.com)
CPT II deficiency is caused by pathogenic variants in the CPT2 gene, and this condition is inherited in an autosomal recessive manner. (cincinnatichildrens.org)
These sequence variants, along with variants controlling dysregulated gene expression that we characterised previously, most likely include the major determinants of SHR cardiovascular and metabolic disease phenotypes. (europa.eu)
We shall determine the functional consequences of these variants by creating and phenotyping transgenic and knockout rats on the SHR and WKY genetic backgrounds, using transposon-mediated transgenesis and zinc-finger nuclease-mediated gene deletion recently shown to be highly efficient in rats. (europa.eu)
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)
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 show that although point mutations and structural variants that drive cancer are less frequent in non-coding genes and regulatory sequences than in protein-coding genes, additional examples of these drivers will be found as more cancer genomes become available. (lu.se)
UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)
shared last-authorship), Stefansson K**. "Identification of sequence variants influencing immunoglobulin levels", Nature Genetics 2017 Aug;49(8). (lu.se)

To assess the performance of this new methodology, we performed a comprehensive comparison of AmpliSeq with RNA-seq using two well-established next-generation sequencing platforms (Illumina HiSeq and Ion Torrent Proton). (biomedcentral.com)
Testing for this gene is also available as part the Metaboseq panel by next-generation sequencing and the Elevated C16 Gene Sequencing panel by Sanger sequencing, which also includes the SLC25A20 gene. (cincinnatichildrens.org)
The Department of Biotechnology (DBT), Government of India, funded this work under the DBT-NER Twinning program "Next Generation Sequencing (NGS)-based de novo assembly of expressed transcripts and genome information of Orchids in North-East India" (Grant ID BT/325/NE/TBP/2012 dated August 07, 2014). (plos.org)

Nucleotide sequence of 21·8 kbp of variola major virus strain Harvey and comparison with vaccinia virus. (microbiologyresearch.org)
[ 9 ] They discovered one low frequency single nucleotide polymorphism (SNP) in the noncoding 5' untranslated (UTR) region of the gene RBM8A in 4 of the cases and another low frequency noncoding SNP in the first intron of the same gene. (medscape.com)
The analytical sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. (cincinnatichildrens.org)
The chloroplast matK gene has been identified as a rapidly evolving gene at nucleotide and corresponding amino acid levels. (vt.edu)
A proportion of these will alter protein sequences, the most common of which is the non-synonymous single nucleotide polymorphism (nsSNP). (biomedcentral.com)
Both HEK-APP and SH-5YSY hGSAP-KO clones contain a single-nucleotide deletion, which creates early termination. (estme.org)
In all, they tested 2512 single nucleotide polymorphisms (SNPs) and insertions/deletions (indels) associated with the signals, plus 4124 other SNPs in active transcription locations, for their ability to alter transcriptional activation. (jax.org)
Information regarding gene content, polycistronic transcription units, sequence insertion or deletion, transition or transversion, and nucleotide repeats may help resolve evolutionary relationships in the kingdom Plantae (Viridiplantae) 6 , 7 , 8 . (plos.org)

We demonstrate that deletion of ERRγ from DAergic neurons in adult mice was sufficient to cause a levodopa-responsive PD-like phenotype with reductions in mitochondrial gene expression and number, that partial deficiency of ERRγ hastens synuclein-mediated toxicity, and that ERRγ overexpression reduces inclusion load and delays synuclein-mediated cell loss. (nature.com)
Knockdown of TP53, which is a gene encompassed by the deleted region, in wild-type cells mimicked the chr17p13.1 deletion phenotype. (nih.gov)
Generate in vivo models to describe the phenotype of Shroom2 deletion and to study the role of Shroom2 in tumour initiation and progression. (ukri.org)

The SHR genome contains over 750 genes that are completely or partly deleted, or have a frameshift in their open reading frame. (europa.eu)
U2OS.EGFP cells caused by inactivating frameshift insertion/deletion (indel) mutations introduced by error prone non-homologous end-joining (NHEJ) repair of nuclease-induced double-stranded breaks (DSBs) (Fig. 1a and Methods ). (cdc.gov)

IGF2 , or insulin-like growth factor 2, is a paternally expressed protein-coding gene. (medscape.com)
KCNQ1OT1 , or potassium voltage-gated channel subfamily Q member 1 opposite transcript 1 is the antisense transcript of the protein-coding gene KCNQ1 . (medscape.com)
Extracellular vaccinia virus formation and cell-to-cell virus transmission are prevented by deletion of the gene encoding the 37,000-Dalton outer envelope protein. (microbiologyresearch.org)
Sequence analysis, expression, and deletion of a vaccinia virus gene encoding a homolog of profilin, a eukaryotic actin-binding protein. (microbiologyresearch.org)
Antibody P2, which is directed to sequences near the amino terminus of ORF 2, recognized a 41-kDa protein in lytically infected cells, suggesting that ORF 2 encodes a protein. (unl.edu)
When the LR gene was inserted into a mammalian expression vector and subsequently transfected into COS-7 cells, a 41-kDa protein was detected by use of silver-stained sodium dodecyl sulfate-polyacrylamide gels and by the P2 antibody. (unl.edu)
Deletion of DNA sequences containing ORF 2 blocked synthesis of the 41-kDa protein in COS-7 cells. (unl.edu)
The investigators found coinheritance of the 1q21.1 deletion with either SNP, causing significant decreases in the level of Y14, a protein encoded by RBM8A . (medscape.com)
During growth, genes associated with protein ubiquitination/deubiquitination, cell cycle progression, and proteasomal degradation were affected, while genes linked to protein and carbohydrate catabolism were affected during early development. (frontiersin.org)
While studying the activity of BRCA2 gene promoter in breast cancer cells, we discovered that this promoter has bi-directional activity and the product of the reverse activity (a ZAR1-like protein, we named ZAR2) silences the forward promoter at the G0/G1 phase of the cell. (biomedcentral.com)
Standard techniques like cell synchronization by serum starvation, flow cytometry, N-terminal or C-terminal FLAG epitope-tagged protein expression, immunofluorescence confocal microscopy, dual luciferase assay for promoter evaluation, and chromatin immunoprecipitation assay were employed during this study. (biomedcentral.com)
The reverse activity transcribes the ZAR2 mRNA with 966 nt coding sequence which codes for a 321 amino acid protein. (biomedcentral.com)
This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
MTHFD1L expression is upregulated in human colon cancer and breast cancer, and high levels of this protein are correlated with growth rate of human cancer cell lines. (dcu.ie)
Very little research has been conducted concerning the expression and function of this important gene and its protein product. (vt.edu)
Our findings indicate that matK RNA and protein is expressed in a variety of plant species, and expression of MatK protein is regulated by development. (vt.edu)
It scrutinized gene expression and DNA copy number data for more than 1,000 of the tumors, while exome sequencing, DNA methylation, and protein expression data was available for 820 tumors, 932 tumors, and 473 tumors, respectively. (genomeweb.com)
For over 40% of the nsSNPs, structure-based methods predicted which of these sequence changes are likely to either disrupt the structure of the protein or interfere with the function or interactions of the protein. (biomedcentral.com)
The most identifiable category of SNP is the small proportion (less than 1%) that change protein sequence, the most common of which is the non-synonymous SNP. (biomedcentral.com)
Duchenne muscular dystrophy (DMD) is a progressive muscle disease caused by loss of function mutations in the Dystrophin gene resulting in loss of dystrophin protein. (gene-tools.com)
This commonly includes DNA, RNA, or protein sequence data. (r-bloggers.com)
The EVC2 gene provides instructions for making a protein whose function is unknown. (medlineplus.gov)
The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema. (lu.se)

They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (wikipedia.org)
The mutation rate at microsatellite loci depends on the repeat motif sequence, the number of repeated motif units and the purity of the canonical repeated sequence. (wikipedia.org)
Here, we explore whether a sporadic mutation that spontaneously arose in a hESC culture consisting of a single-copy deletion of chr17p13.1 would confer a survival advantage to the mutant cells. (nih.gov)
Dissociation of progeny vaccinia virus from the cell membrane is regulated by a viral envelope glycoprotein: effect of a point mutation in the lectin homology domain of the A34R gene. (microbiologyresearch.org)
1993). Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. (cincinnatichildrens.org)
Meanwhile, their combined copy number and mutation data uncovered cohesin complex gene glitches in around 16 percent of the gliomas. (genomeweb.com)
Patients with gemistocytic astrocytoma with oligodendroglial differentiation, IDH1 samples from a Li-Fraumeni family with and secondary glioblastoma with RRAS mutation, and 1p/19q loss, suggesting a TP53 germline mutation and multiple deletion tended to have shorter survival that FUBP1 immunohistochemistry is nervous system tumours revealed times than those without deletion. (who.int)
Therefore, the entire oligodendroglial differentiation, diffuse astrocytomas, oligoastrocytomas, coding sequence of the LATS1 gene in IDH1 Mutation, and 1P/19q loSS and oligodendrogliomas. (who.int)
A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema. (lu.se)
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. (lu.se)
This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)
Ten of 21 isolates were resistant to penicillin, ciprofloxacin and tetracycline, due mainly to the presence of the bla TEM gene, the S91F mutation in the gyrA gene and the tetM gene, respectively. (who.int)

RNA-seq offers several advantages over microarrays or RT-qPCR for detecting differentially expressed genes (DEGs). (biomedcentral.com)
In this study, we used comparative transcriptomics to identify differentially expressed genes underlying cln5 -deficiency phenotypes during growth and the early stages of multicellular development. (frontiersin.org)

The majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript. (nih.gov)
We begin with an introduction to bioinformatics and omics data analysis, and conclude with the walkthrough of a simple bioinformatics workflow for aligning transcriptomic sequences with genomic data. (r-bloggers.com)
Wells demonstrated that the breakpoints of genomic rearrangements coincide with non-B DNA conformations and that these genomic rearrangements are the basis of a number of gene mutations which cause diseases. (gf.org)
Author Manuscript genomic DNA sequence of interest that lies next to a protospacer adjacent motif (PAM) matching the sequence NGG5-12, 14 (Supplementary Fig. 1). (cdc.gov)

We report in-frame insertion/deletion MLLT1 mutations in FHWT that are absent in other TARGET paediatric tumour types. (nature.com)
In pilot studies, we now show that there is a deletion/insertion in the DNA sequence that appears to explain the effect on CRC risk. (ukri.org)
MTHFD1L polymorphisms have been studied in relation to cleft disease and Melting Curve Analysis was developed for genotyping the Deletion Insertion Polymorphism rs3832406. (dcu.ie)

This study is the first to explain how a gene-AMACR-is regulated in relation to cancer development and to identify specific genetic events (a polymorphism and somatic cell mutations) related to colon cancer. (sciencedaily.com)
We show here that somatic deletions in the tyrosine kinase domain of EGFR were associated with increased EGFR gene copy number in NSCLC. (vumc.org)

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
Exome sequencing was carried out in gemistocytic astrocytomas, and homozygous deletion of genes was identified at 19q13, i.e. (who.int)
Also, ERCC1 homozygous deletion or et al. (who.int)

Triplicate cDNA libraries of two mutant WA09 lines with a single-copy deletion of chr17p13.1, and two wild-type WA09 lines, for a total of 12 libraries were sequenced using Illumina HiSeq 2500. (nih.gov)
Using published data from two standard RNA reference samples, we observed a strong concordance of log2 fold change for all genes when comparing AmpliSeq to Illumina HiSeq (Pearson's r = 0.92) and Ion Torrent Proton (Pearson's r = 0.92). (biomedcentral.com)

The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)

We give examples of mutations in genes that are predicted to be deleterious and may have a role in disease. (biomedcentral.com)

Cas9 is a programmable endonuclease routinely used to generate sequence deletions, insertions, and even to regulate gene expression from bacteria to mammals. (imperial.ac.uk)
Each miRNA can have multiple target genes, and several miRNAs can regulate the same gene. (researchsquare.com)
MicroRNAs have been reported to regulate about one-third of human genes [ 11 ] . (researchsquare.com)
The notion could be that unique cellular mechanisms are triggered in the breast cancer cells to stimulate BRCA2 gene expression as a temporary measure to regulate the growth of the breast cancer cells. (biomedcentral.com)

Molecular alterations long known to contribute to WT development include mutations and/or deletions involving WT1 , WTX , CTNNB1 and loss of imprinting or loss of heterozygosity (LOH) at 11p15 (reviewed in ref. 5 ). (nature.com)
Overall, this study reveals the impact of cln5 -deficiency on gene expression in D. discoideum , provides insight on the genes and proteins that play a role in regulating Cln5-dependent processes, and sheds light on the molecular mechanisms underlying CLN5 disease. (frontiersin.org)
Different cells in the body have different functions that are controlled by molecular switches that turn the expression of genes on or off. (tecan.com)
Elucidate the specific molecular mechanism by which SHROOM2 impacts on CRC risk and on gene expression in human large bowel epithelium and the retina. (ukri.org)
We plan to take this GWAS 'hit' from sequence interrogation, through to understanding molecular mechanism and function in relevant tissues, into in vivo human and model organisms. (ukri.org)
1996). Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. (cincinnatichildrens.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)
In this study, we examined the expression, function and evolution of MatK using a combination of molecular and genetic methods. (vt.edu)

Other microsatellites are located in regulatory flanking or intronic regions of genes, or directly in codons of genes - microsatellite mutations in such cases can lead to phenotypic changes and diseases, notably in triplet expansion diseases such as fragile X syndrome and Huntington's disease. (wikipedia.org)
Therefore, they may be two gene regulatory points for the prevention of cervical cancer. (researchsquare.com)

Expression of latency-related (LR) gene products is controlled by a 980-bp fragment (LR promoter). (unl.edu)
Reporter plasmid for analysis of enhancer sequences in vertebrate cells, using the herpes simplex virus (HSV) thymidine kinase promoter to drive expression of the cat reporter gene. (addgene.org)
Deletion analysis revealed that a light-responsive element was located in the region -276 to-218, a promoter sequence was in the region -85 to -1, and two positive cis elements were in the -419 to -276 and the -218 to -130 regions, respectively. (ejbiotechnology.info)
DEAF-1 activates the expression of Mtk and Drs promoter-luciferase fusion genes in S2 cells. (sdbonline.org)
Human BRCA2 gene promoter is active in both the forward and the reverse orientations. (biomedcentral.com)
In the G0/G1 growth phase ZAR2 is predominantly located inside the nucleus of the breast cells, binds to the BRCA2 promoter and inhibits the expression of BRCA2. (biomedcentral.com)
BRCA2 gene promoter has bi-directional activity, expressing BRCA2 and a novel C4-type zinc finger containing transcription factor ZAR2. (biomedcentral.com)
Subcellular location of ZAR2 and its expression from the reverse promoter of the BRCA2 gene are stringently regulated in a cell cycle dependent manner. (biomedcentral.com)
ZAR2 binds to BRCA2/ZAR2 bi-directional promoter in vivo and is responsible, at least in part, for the silencing of BRCA2 gene expression in the G0/G1 phase in human breast cells. (biomedcentral.com)

Our analyses confirm previously reported drivers6,7, raise doubts about others and identify novel candidates, including point mutations in the 5' region of TP53, in the 3' untranslated regions of NFKBIZ and TOB1, focal deletions in BRD4 and rearrangements in the loci of AKR1C genes. (lu.se)

Though most chloroplast genes are believed to have been transferred to the nucleus during evolution, their genomes have maintained fairly conserved structures and gene contents throughout their evolutionary lineage 1 . (plos.org)
The cp genomes of land plants usually contain approximately 110-120 genes, which mostly participate in photosynthesis or gene expression 4 , 5 . (plos.org)
We sequenced the whole genomes of 21 N. gonorrhoeae isolates collected in 2013-2014 by ARSP. (who.int)

Genetic ablation is another term for gene silencing , in which gene expression is abolished through the alteration or deletion of genetic sequence information. (wikipedia.org)

If a person carries one of the deletions, it may predispose him or her to a more aggressive type of colon cancer. (sciencedaily.com)
The mutations of BRCA2 gene predispose the cells towards neoplastic development. (biomedcentral.com)

The Ion AmpliSeq™ Transcriptome Human Gene Expression Kit (AmpliSeq) was recently introduced by Life Technologies as a whole-transcriptome, targeted gene quantification kit to overcome these limitations of RNA-seq. (biomedcentral.com)
Our study indicates that AmpliSeq excels in the limiting areas of RNA-seq for gene expression quantification analysis. (biomedcentral.com)
As one of the most widely used tools for transcriptome profiling, quantification of differential gene expression has played a pivotal role in the identification of pathway and gene-network interactions [ 1 - 3 ]. (biomedcentral.com)
Whole-transcriptome sequencing (RNA-seq) technology has emerged as a revolutionary platform for genome-wide quantification of mRNA transcripts. (biomedcentral.com)

We used histologic, immunofluorescence, RNA sequencing, and metabolic assays to characterize kidneys from these mice and controls during development and up to postnatal day 21. (lww.com)

In addition to discovering the hotspots that trigger abnormal AMACR expression, they also identified specific proteins (transcription factors) that would normally bind to the deleted sequences to maintain normal gene expression. (sciencedaily.com)

These genes are regulated by specific regions near the genes called imprinting control regions (ICRs), which contain epigenetic marks (methylation) that coordinate gene expression. (medscape.com)
By combining clinical information on patient progression patterns and outcomes, information on diffuse glioma-associated genes in more than 1,000 grade II, III, or IV grade tumors, and new methylation data, the researchers identified seven glioma categories that show promise for classifying lower- and high-grade tumors, and, in some cases, predicting patient outcomes. (genomeweb.com)
Along with analyses focused on co-occurring alterations in the glioma tumors, the team clustered the tumors based on overlapping gene mutations, gene expression, copy number, and DNA methylation marks. (genomeweb.com)
Tumors with wild type IDH1/2 made up four more methylation- and gene expression-based clusters - patterns the researchers used to develop a methylation-based classifier that they tested in hundreds more IDH1/2 wild type gliomas. (genomeweb.com)

RNA sequencing analysis showed differential expression of genes in pathways related to proliferation and differentiation. (nih.gov)

The DNA isolated from 104 DMD boys was tested with the cDNA for detection of deletions and 53 patients exhibit deletion mutations. (nih.gov)
Previous analyses of dopaminergic (DAergic) neurons from patients with Lewy-body pathology revealed a deficiency in nuclear-encoded genes for mitochondrial respiration, many of which are targets for the transcription factor estrogen-related receptor gamma ( Esrrg /ERRγ). (nature.com)
Laser-captured microdissected (LCM) DAergic neurons from postmortem tissue of patients with Lewy-pathology revealed a deficiency in expression for nuclear-encoded genes involved in mitochondrial respiration and function 12 . (nature.com)
however, despite investigations of the c-mpl gene in patients with TAR, no mutations have been found in this gene. (medscape.com)
[ 8 ] All patients and 75% of unaffected parents in this cohort had the microdeletion, suggesting co-inheritance of an additional modifier gene for disease expression. (medscape.com)
A study by Manukjan et al indicated that in patients with TAR syndrome, those with the 5'UTR SNP in RBM8A have a significantly lower platelet count than do patients with the intron-1 SNP in this gene. (medscape.com)
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)
Many mutations have been postulated, although none had been identified, despite investigations of the c-mpl gene in patients with TAR. (medscape.com)
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. (lu.se)
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. (lu.se)
Venetoclax has an 80% response rate in patients with chronic lymphocytic leukemia who have a 17p deletion. (cdc.gov)

Further evidence suggests that during PD progression, transcriptional programs for the expression of genes involved in mitochondrial structure and function are disrupted 11 . (nature.com)
The University of Cincinnati (UC) team has identified "hotspots"-areas of deleted genetic data-that play a critical role in regulating gene expression and influence colon cancer progression. (sciencedaily.com)
UC researchers analyzed the AMACR gene's abnormal expression patterns using a sophisticated laser-capture microdissection technique to identify the key biological events that lead to colon cancer progression. (sciencedaily.com)
One potential mechanism of BRCA2 involvement in breast cancer progression may be through deregulation of the BRCA2 gene expression. (biomedcentral.com)

The MTHFD1L gene encodes the mitochondrial monofunctional enzyme with proven 10-formyltetrahydrofolate synthetase activity. (dcu.ie)

The multilocus sequence type, multiantigen sequence type, presence of determinants of antimicrobial resistance and relatedness among the isolates were all derived from the sequence data. (who.int)
Despite the small number of isolates studied, they were genetically diverse, as shown by the sequence types, the N. gonorrhoeae multiantigen sequence typing types and the tree. (who.int)

VHL knockout nephron progenitors also exhibit persistent Six2 and Wt1 expression, as well as decreased mitochondrial respiration and prolonged reliance on glycolysis. (lww.com)

Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists. (wikipedia.org)

Thus, AmpliSeq stands as a very sensitive and cost-effective approach for very large scale gene expression analysis and mRNA marker screening with high accuracy. (biomedcentral.com)
The number of sequencing reads that map to each transcript is used to infer the abundance of mRNA molecules. (biomedcentral.com)
AU-rich sequences seem to be involved in mRNA stability. (ruc.dk)

While most autosomal genes are expressed biallelically, imprinted genes are expressed either from the maternal or paternal allele. (medscape.com)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

While ERRγ deletion did not fully recapitulate the transcriptional alterations observed in postmortem tissue, it caused reductions in genes involved in synaptic and mitochondrial function and autophagy. (nature.com)
We therefore investigated lung cancer cell lines for alterations in EGFR gene copy number, enhanced expression of EGFR and other HER family members, and EGFR coding sequence mutations and correlated these findings with response to treatment with the EGFR inhibitors and the kinetics of ligand-induced signaling. (vumc.org)

Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.org)

Although the first microsatellite was characterised in 1984 at the University of Leicester by Weller, Jeffreys and colleagues as a polymorphic GGAT repeat in the human myoglobin gene, the term "microsatellite" was introduced later, in 1989, by Litt and Luty. (wikipedia.org)
We studied these changes in human large bowel epithelium and showed a very strong relationship between the genotype and SHROOM2 expression, indeed so strong that the DNA sequence explained most of the variation in SHROOM2 expression in the colon. (ukri.org)
Define the effect of modifying SHROOM2 expression (knockdown & over-expression) on cancer-relevant cell biological phenotypes in: cancer cell lines, human large bowel epithelium. (ukri.org)
Although effect size is modest (OR 1.07), we identified an eQTL with striking effects on expression, explaining most of the variance in SHROOM2 expression in human normal large bowel epithelium. (ukri.org)
For this study, UC researchers looked at the actions of the AMACR gene in human tissue. (sciencedaily.com)
They also compared gene sequencing data from the general population-obtained from whole blood samples-to that of the human colon cancer tissue samples. (sciencedaily.com)
Recent genetic studies have identified hundreds of susceptibility genes for common human diseases but genetic effects are small and identifying underlying mechanisms remains challenging. (europa.eu)
Genes will be prioritised for study by statistical and informatic analyses using our extensive physiological, gene expression and linkage data in these rat strains, and by comparative analysis with data from human genome-wide association studies. (europa.eu)
BRCA2 gene expression is tightly regulated during the cell cycle in human breast cells. (biomedcentral.com)
Investigation of the human folate gene MTHFD1L: polymorphisms and disease risk. (dcu.ie)
Minguzzi, Stefano (2013) Investigation of the human folate gene MTHFD1L: polymorphisms and disease risk. (dcu.ie)
Abnormal human leukocyte antigen G (HLA-G) expression may be involved in pre-eclampsia. (ruc.dk)
2 3 The HGP demonstrated that a relatively limited number of genes could be identified in the human genome, which substantiated the theory that complex biological processes were regulated on other levels than DNA sequence alone. (bmj.com)
The recent sequencing of the human genome has provided a wealth of information detailing several million genetic variations between individuals. (biomedcentral.com)
Also, attention is currently focused on repeating triplet sequences that cause human hereditary neurological diseases. (gf.org)
A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. (lu.se)

Epigenetics is revolutionizing the way we view how gene expression is controlled, and now deeply influences the research that we perform and how we tackle some key diseases. (tecan.com)
Many diseases have been found to be related to genes. (researchsquare.com)
The genetic instabilities (expansions and deletions) which cause diseases such as myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia, are due to the formation of non-orthodox DNA structures which enable slippage of the complementary strands that are accentuated by a number of genetic-biochemical factors. (gf.org)

in fact, these genes are targets of the transcriptional coactivator and master regulator of transcription of mitochondrial genes peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α) 12 . (nature.com)
Immunity genes are activated in the Drosophila fat body by Rel and GATA transcription factors. (sdbonline.org)
Deformed epidermal autoregulatory factor-1 (DEAF-1) is a transcription factor that was originally shown to bind the autoregulatory enhancer of the Deformed ( Dfd ) Hox gene, which is activated in embryonic head segments of Drosophila (Gross, 1996). (sdbonline.org)
With MPRA, the team was able to determine the transcription activity potential of thousands of sequences that represented 259 association signals from prior genome wide association studies (GWAS). (jax.org)
Altered islet cell CRE activity has been implicated in T2D genetic risk, but previous investigations have found altered gene expression levels or transcription accessibility at only about a quarter of the T2D-associated locations under steady-state conditions. (jax.org)

The relatively new field of epigenetics looks at the role genes, DNA and environment play in health and the treatment of disease. (tecan.com)
Epigenetics (from the Greek epi - over, outside of, around) is the study of heritable changes in gene expression that occur without changes in DNA sequence (such as mutations and deletions). (tecan.com)

The mutations on GBA1 include deletion and missense mutations that are pathological and lead to GCase deficiency in Gaucher disease. (bvsalud.org)

There are 15 genes in the chloroplast that would require a maturase for RNA splicing. (vt.edu)
Biswal D, Konhar R, Debnath M, Parameswaran S, Sundar D, Tandon P. Chloroplast Genome Sequence Annotation of Dendrobium nobile (Asparagales: Orchidaceae), an Endangered Medicinal Orchid from Northeast India. (plos.org)

qRT-PCR analysis was performed with designated cDNA samples using TaqMan Gene Expression Assay (Applied Rabbit polyclonal to APE1 Biosystems). (estme.org)

Sequence analysis was performed to discover and characterize MTHFD1 and MTHFD1L similar sequences. (dcu.ie)

The rationale is compelling for study of SHROOM2 as a gene responsible for susceptibility to a common cancer killer (CRC). (ukri.org)

But mice missing lacking this gene have normal hair, and a 12-year-old girl missing this gene shows no signs of CGHT. (newscientist.com)
We assessed the effect of Chop deletion in multiple mouse models of type 2 diabetes and found that Chop -/- mice had improved glycemic control and expanded β cell mass in all conditions analyzed. (jci.org)
In addition, we found that isolated islets from Chop -/- mice displayed increased expression of UPR and oxidative stress response genes and reduced levels of oxidative damage. (jci.org)
To explore VHL as a regulator defining nephron progenitor self-renewal versus differentiation, we bred Six2-TGC tg mice with VHL lox/lox mice to generate mice with a conditional deletion of VHL from Six2 + nephron progenitors. (lww.com)
Compared with vehicle, hGBA1-NPC-transplanted mice showed â ¼50% reduction of α-synuclein aggregates in the substantia nigra, significant reduction of neuroinflammation and neurodegeneration in the regions of NPC migration, and increased expression of neurotrophic factors that support neural cell function. (bvsalud.org)

The sequence reads were mapped to hg19 reference genome and hits that passed quality filters were analyzed for differential expression. (nih.gov)
All three statistical methods demonstrate AmpliSeq as a highly accurate method for differential gene expression analysis. (biomedcentral.com)
Finally, consistent with the differential expression of genes associated with proteasomal degradation in cln5 - cells, we also observed elevated amounts of a proteasome subunit and reduced proteasome 20S activity during cln5 - growth and starvation. (frontiersin.org)

When analyzing four closely related hiPSC-CM lines, we show that both AmpliSeq and RNA-seq capture similar global gene expression patterns consistent with known sources of variations. (biomedcentral.com)

Instead, the experiments suggest that Tao negatively regulates BMP signaling as reduction of Tao leads to an increase in pMad levels in motor neuron nuclei and an increase in BMP target gene expression. (sdbonline.org)

Confirmed rat disease genes will be tested for conserved functions in humans. (europa.eu)

Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

This research represents the first in-depth analysis of matK gene expression and contributes to several fields of biology including plant systematics, genetics and gene expression. (vt.edu)

Constructed from pBLCAT2 (ATCC 37527) by deletion of a 467 bp fragment immediately upstream of the 5' polylinker and replacement by two fragments, each containing the polyadenylation signal of the SV40 large T gene. (addgene.org)
Results showed that the upstream sequence of cpcB gene could drive the expression of gfp gene in Synechococcus sp. (ejbiotechnology.info)

Here, we report the complete cp genome sequence of Dendrobium nobile from Northeast India (Orchidaceae, Asparagales), bearing the GenBank accession number KX377961, which will provide valuable information for future research on orchid genomics and evolution, as well as the medicinal value of orchids. (plos.org)

DEAF-1 recognizes several TTCG motifs within the portion of the Dfd autoregulatory region termed 'module E.' In addition, DEAF-1 binds several similar motifs within a Dfd response element ( DRE ) from the 1.28 gene that enhances maxillary gene expression during embryogenesis (Pederson, 2000). (sdbonline.org)

In cyanobacteria, few details are known of the mechanisms through which the expression of the light-harvesting pigment c-phycocyanin is regulated. (ejbiotechnology.info)
While most of the CLN genes have been studied, the precise cellular mechanisms impacted by CLN gene mutations remain elusive. (frontiersin.org)

Anatomy3

Organisms3

Diseases1

Chemicals and Drugs11

Analytical, Diagnostic and Therapeutic Techniques and Equipment12

Phenomena and Processes30

Information Science3

Health Care1

Chromosome11

Duplications3

Regulation12

Exon12

Insertions and deletions2

Variants11

Next Generation Sequencing3

Nucleotide8

Phenotype3

Frameshift2

Protein25

Mutation12

Differentially expressed genes2

Genomic4

Insertion3

Somatic2

Homozygous deletion3

Illumina HiSeq2

Amplification1

Mutations in genes1

Regulate4

Molecular8

Regulatory2

Promoter9

Point mutations1

Genomes3

Genetic sequence1

Predispose2

Quantification4

Assays1

Proteins1

Methylation4

Pathways1

Patients11

Progression4

Encodes1

Isolates2

Mitochondrial respiration1

Microsatellites1

MRNA3

Allele2

Alterations2

Analysis showed1

Human16

Diseases3

Transcription5

Epigenetics2

Missense1

Chloroplast2

CDNA1

Characterize1

Susceptibility1

Mice5

Differential3

Variations1

Regulates1

Humans1

Autosomal1

Genetics1

Upstream2

Genome sequence1

Motifs1

Mechanisms2