Genomic analysis of genes and proteins. Medical search. Frequent questions

On average, we identify 43 mutations per tumour, excluding four cases with a mutator phenotype that harboured inactivating mutations in mismatch repair genes. (nih.gov)
In addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases. (nih.gov)
Mutations in the VHL gene increase the risk of developing tumors of the nervous system called paragangliomas or pheochromocytomas (a type of paraganglioma). (medlineplus.gov)
VHL gene mutations associated with nonsyndromic paraganglioma or pheochromocytoma can be inherited or can occur spontaneously. (medlineplus.gov)
The VHL gene mutations found in nonsyndromic paraganglioma or pheochromocytoma change single amino acids in the VHL protein or create an abnormally short protein. (medlineplus.gov)
At least 10 inherited mutations in the VHL gene have been found to cause familial erythrocytosis, a condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots. (medlineplus.gov)
When familial erythrocytosis results from VHL gene mutations, it is often designated ECYT2. (medlineplus.gov)
The other VHL gene mutations that can cause familial erythrocytosis also change single amino acids in the VHL protein. (medlineplus.gov)
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 in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. (medlineplus.gov)
A small number of affected individuals have mutations in both copies of the RBM8A gene in each cell and do not have a deletion on chromosome 1. (medlineplus.gov)
RBM8A gene mutations that cause TAR syndrome reduce the amount of RNA-binding motif protein 8A in cells. (medlineplus.gov)
People with either an RBM8A gene mutation and a chromosome 1 deletion or with two gene mutations have a decreased amount of RNA-binding motif protein 8A. (medlineplus.gov)
The ability to accurately predict essential genes intolerant to loss-of-function (LOF) mutations can dramatically improve the identification of disease-associated genes. (biomedcentral.com)
While it is relatively straightforward to identify LOF mutations in protein-coding genes, it is challenging to infer their effects on evolutionary fitness and disease risk. (biomedcentral.com)
Introduction to loss of function (LOF) mutations, essential genes versus nonessential genes as well as LOF intolerance versus LOF tolerance. (biomedcentral.com)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
Peu de renseignements sont disponibles sur les mutations des virus saisonniers de la grippe A(H1N1)pdm09 et H3N2 en Jordanie. (who.int)
Les mutations individuelles sont décrites en détail. (who.int)
Zettner MA, Flor S, Ludewig G, Wagner J, Robertson LW, Lehmann L. Quinoid metabolites of 4-monochlorobiphenyl induce gene mutations in cultured Chinese hamster v79 cells. (who.int)
2020). Protein-altering germline mutations implicate novel genes related to lung cancer development. (who.int)

The gene encoding PvTRAMP was identified through an extensive search of the databases hosting the genome sequence of P. vivax . (biomedcentral.com)
These methods are widely used for genome analysis, global methylation, miRNAs discovery and profiling or transcription factor (TF) analysis, among many other applications. (biorxiv.org)
This gene has no protein-coding homolog in any other genome but its presence is supported by evidence from expression and hybridization data. (ubc.ca)
Estimates of SNP effects from weighted single-step GBLUP (WssGBLUP) were used to perform genome-wide association (GWA) analysis to identify quantitative trait loci (QTL) associated with the studied traits. (umd.edu)
Sequence analysis of the Daphnia pulex genome holds some surprises that could not have been anticipated from what was learned so far from other arthropod genomes. (biomedcentral.com)
Given the critical phylogenetic position of the lamprey as an outgroup to the gnathostomes," Li and colleagues explained, "comparing the lamprey genome to gnathostome genomes holds the promise of providing insights into the structure and gene content of the ancestral vertebrate genome. (genomeweb.com)
For the new study, members of the team from Washington University's Genome Institute tackled the lamprey genome with whole-genome shotgun sequencing, fosmid sequencing, and BAC library sequencing, using genomic DNA from a female sea lamprey caught wild in the Great Lakes. (genomeweb.com)
Collaborators at the MSU Genomic Core sequenced lamprey RNA, meanwhile, generated transcriptome data that helped in annotating the newly sequenced genome. (genomeweb.com)
The team's analyses of the 816 million base genome assembly uncovered 26,046 predicted protein-coding genes. (genomeweb.com)
Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
While the existing methods are highly predictive of essential genes of long length, they have limited power in pinpointing short essential genes due to the sparsity of polymorphisms in the human genome. (biomedcentral.com)
genome informatics focuses on the development and application of algorithms and software for analysis of large sets of data, e.g. sequence sets and transcriptome data. (uni-hamburg.de)
These analyses include gene prediction, automated genomic annotation and genome comparison/alignment. (uni-hamburg.de)
Genome-wide location analysis revealed that Cbx3 predominantly binds active genes in both pre-iPSCs and pluripotent cells but with a strikingly different distribution: in pre-iPSCs, but not in embryonic stem cells, Cbx3 associates with active transcriptional start sites, suggesting a developmentally regulated role for Cbx3 in transcriptional activation. (ca.gov)
Sequence analysis of the complete genome of SARS-CoV has shown an RNA molecule of about 29,750 bases in length, with a genome organization similar to that of other coronaviruses ( 9 - 11 ). (cdc.gov)
In Paper III, a series of causal-inference experiments from VHU and publicly available genome-wide association study (GWAS) summary statistics were used to triangulate evidence of the direct and mediated effects by adiposity and physical activity, of macronutrient intake (fat, carbohydrates, protein and sugar) and cardiometabolic disease. (lu.se)
2022). Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. (who.int)

Furthermore, annotation discrepancy can be found among different bioinformatic and genomic databases. (nature.com)
Functional annotation of the high confidence genes in QRl.hwwg-1AS and QRl.hwwg-5AL revealed 53 putative candidate genes encoding proteins for stress response and cell morphology. (usda.gov)
Then, GO and KEGG signal pathway enrichment analyses were used to conduct functional annotation and signal pathway analysis for DEGs. (hindawi.com)

We investigate the functional relevance of de novo missense variants, specifically whether they are likely to disrupt protein interactions, and nominate novel genes in risk for ASD through integrated genomic, transcriptomic, and proteomic analyses. (springer.com)
In previous studies of GCs, genomic and transcriptomic analyses have identified molecular signatures associated with phenotypes of the disease, such as patient subtypes and survival. (genomeweb.com)
IKB contains information for human immunome genes and proteins, phylogenetic trees and evolutionary information for immunome orthologs, ortholog groups for metazoan immunome, and variation data on genomic, transcriptomic and proteomic level. (lu.se)

Gene identity was determined initially based upon BLAST similarity and confirmed by phylogenetic analysis. (europa.eu)
Phylogenetic analyses group 1RT126I22 with TNFSF 13b which is also known as B-cell activating factor (BAFF) or B-lymphocyte stimulating factor (BLyS). (usda.gov)
There is little information on their evolution in Jordan so this study investigated the genetic and antigenic variability of A(H1N1)pdm09 and H3N2 viruses in Jordan by performing phylogenetic and genetic analyses of the HA and NA genes of A(H1N1)pdm09 and H3N2 viruses between 2011 and 2013. (who.int)
in Jordan, we performed a phylogenetic analyser (Applied Biosystems, Foster analysis and genetic analysis of the HA City, CA, USA). (who.int)

GeneCodis is a web-based tool for functional enrichment analysis that allows researchers to integrate different sources of annotations. (biorxiv.org)
Here we present GeneCodis 4, a new release that expands the functional analysis provided by the application, to accept regulatory elements, including lists of, transcription factors, CpG sites and miRNAs. (biorxiv.org)
Functional enrichment analysis is a widely used method to discover biological annotations that are over-represented in a list of genes with respect to a reference list. (biorxiv.org)
Therefore, there is an increasing need for dedicated methods and tools for functional analysis of these types of experiments. (biorxiv.org)
In this context, different groups are proposing dedicated tools for functional analysis of miRNAs ( Garcia-Moreno and Carmona-Saez, 2020 ) or methylation data ( Ren and Kuan, 2019 ). (biorxiv.org)
is a recent functional analysis method that uses data fusion techniques to integrate different omics data. (biorxiv.org)
This genomic resource holds the promise of providing insights into many other aspects of vertebrate biology, especially with continued refinements in the assembly and the capacity for direct functional analysis in lamprey," they wrote. (genomeweb.com)
Motivated by the premise that population and functional genomic data may provide complementary evidence for gene essentiality, here we present an evolution-based deep learning model, DeepLOF, to predict essential genes in an unsupervised manner. (biomedcentral.com)
Unlike previous population genetic methods, DeepLOF utilizes a novel deep learning framework to integrate both population and functional genomic data, allowing us to pinpoint short essential genes that can hardly be predicted from population genomic data alone. (biomedcentral.com)
Our method integrates a population genomics-based approach with a functional genomics approach, providing unparalleled ability to predict LOF intolerance, particularly in short genes. (biomedcentral.com)
BioTranslator enables functional interpretation of genomic experiments through pathways analysis with a variety of biomedical ontologies, regulatory genes prioritization and protein network visualization. (elixir-europe.org)

Finally, we integrate protein interactions and cell-type-specific co-expression networks together with published association data to implicate novel genes in ASD risk in a cell-type-specific manner. (springer.com)

Proteins/genes with a putative catabolic role and bacterium adaptation mechanisms during OPP degradation were identified via genomic and proteomic analysis. (nature.com)

The analysis of epigenetics patterns or regulatory elements have been an increasing focus of research in many contexts, such as development biology or characterization of molecular mechanisms in complex diseases ( Schübeler, 2015 ). (biorxiv.org)
Bacterial artificial chromosome clones have been isolated from a trout library to further facilitate genomic characterization. (usda.gov)
For a more comprehensive and unbiased proteomic characterization, the Clinical Proteomic Tumor Analysis Consortium performed mass spectrometry-based proteomic and/or phosphoproteomic analyses of tumor tissues from patients with colon, breast, and ovarian cancers, which demonstrated that proteomic signatures can provide information that can further stratify patients. (genomeweb.com)
Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)

They then performed an integrative clustering analysis using all four types of data and identified four subtypes. (genomeweb.com)
In addition, the integrative genomic analyses suggested a candidate causal variant localized to the established T2D gene TCF7L2. (lu.se)
2023). Design and methodological considerations for biomarker discovery and validation in the Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Program. (who.int)
2019). Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids. (who.int)

With considerable accumulation of RNA-Seq transcriptome data, we have extended our understanding about protein-coding gene transcript compositions. (nature.com)
Protein-coding transcripts or genes do occupy much higher expression fraction in transcriptome data. (nature.com)

In humans, dynamin-1-like protein, which is typically referred to as dynamin-related protein 1 (Drp1), is encoded by the DNM1L gene and is part of the dynamin superfamily (DSP) family of proteins. (wikipedia.org)
Epidermal growth factor receptor kinase substrate 8-like protein 1 is an enzyme that in humans is encoded by the EPS8L1 gene. (wikipedia.org)
We present evidence for the de novo origin of the Wookiee wookiee protein-coding gene GLABR since their divergence from humans. (ubc.ca)
They also compared genes between mammalian species to identify selection on primate lineages salient to the evolution of humans and the disorder. (sciencedaily.com)
The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci. (medlineplus.gov)
Influenza viruses are considered one of and NA genes of A(H1N1)pdm09 erated with SeqMan DNA Lasergene the most common causes of respira- and H3N2 viruses in Jordan between 7 software (DNASTAR, Madison, tory infection among humans and they March 2010 and March 2013. (who.int)

It is essential to exhaustively interrogate complex mRNA isoforms of protein-coding genes with an unified data resource. (nature.com)
In order to investigate representative mRNA transcript isoforms to be utilized as transcriptome analysis references, we utilized GTEx data to establish a top-ranked transcript isoform expression data resource for human protein-coding genes. (nature.com)
Therefore, information regarding reference annotated mRNA transcripts of respective human protein-coding genes would be beneficial for biomedical researches and pathological sequence variation analyses. (nature.com)
Subsequently, we detected the expression of EZH2 on mRNA level and protein level in two different embryonic development stages (65-dpc and 90-dpc) via qRT-PCR and western blots. (hindawi.com)
We identified a large number of genes whose mRNA levels are modulated during differentiation of MPRO cells. (yale.edu)
We used an oligonucleotide chip containing 13,179 probe sets corresponding to about 7000 murine genes to analyze patterns of mRNA expression in the same RNA samples used for DD. (yale.edu)
Further, they found 11,938 genes were expressed in the tumor and adjacent normal samples, on average, in the mRNA data. (genomeweb.com)
These functions include helping to transport molecules called messenger RNA (mRNA), which serve as the genetic blueprint for making proteins. (medlineplus.gov)
RNA-binding motif protein 8A likely carries mRNA molecules from the nucleus to areas of the cell where proteins are assembled. (medlineplus.gov)
It may also be involved in controlling how the instructions in mRNA molecules are used to build proteins and in destroying mRNA that is defective or not needed. (medlineplus.gov)
mRNA lacks genomic integration and its use results in transient expression of the encoded protein. (pipelinereview.com)
This favorable safety profile makes mRNA especially attractive for vaccines and gene editing. (pipelinereview.com)
This report „ mRNA Vaccines & Therapeutics 2017: an industry analysis of technologies, pipelines, stakeholders and deals " as of June 2017 brings you up-to-date regarding key mRNA players, key mRNA technologies and applications, mRNA vaccines & therapeutics, business projects, business deals and funding opportunities. (pipelinereview.com)

Nonetheless, the association signal primarily arises from de novo protein-truncating variants, as opposed to the more common missense variants. (springer.com)
Utilizing our previous interactome perturbation predictor, we identify a set of missense variants that are likely disruptive to protein-protein interactions. (springer.com)
Extending earlier work, we show that de novo missense variants that disrupt protein interactions are enriched in individuals with ASD, often affecting hub proteins and disrupting hub interactions. (springer.com)
The evidence, however, largely comes from protein-truncating variants (PTVs) as opposed to de novo missense (dnMis) variants. (springer.com)
However, only one transcript has been validated in pigs, with several other transcript variants of EZH2 from digital computational analysis in NCBI that have not been empirically validated. (hindawi.com)
Specifically, a long gene typically has a large expected number of LOF variants under a neutral mutation model. (biomedcentral.com)
A high recall search engine to support the curation of genomic variants. (elixir-europe.org)
Multiple alternatively spliced transcript variants have been found for this protein. (cancerindex.org)

Genes adjacent to pvtramp were identified in silico to determine the degree of similarity between the protein sequences encoded by equivalent chromosomic fragments in P. falciparum and Plasmodium knowlesi . (biomedcentral.com)
Both predicted proteins are highly conserved with other known homologous sequences, with the exception of two small domains present only in the Sof-RXR. (europa.eu)
Three introns were identified in the rainbow trout, Atlantic salmon and zebrafish genomic sequences, and the intron locations correspond closely to those in the mammalian TNFSF 13b genes. (usda.gov)
The full HA and NA genes of 16 H1N1-positive samples obtained in our study and 21 published HA sequences and 20 published NA sequences from Jordanian viruses that were available on online gene databases were analysed. (who.int)
HA and NA sequences each in the analysis. (who.int)

Human evidence of this is provided by molecular analysis of Pneumocystis isolates obtained from groups of patients involved in hospital outbreaks. (medscape.com)
The researchers analysed the molecular evolution of the 76 genes that have the strongest genetic association with the disorder. (sciencedaily.com)
In this study, we obtained the hub genes and pathways related to LUAD, revealing the molecular mechanism and pathogenesis of LUAD, which is helpful for the early detection of LUAD and provides a new idea for the treatment of LUAD. (hindawi.com)
Our comprehensive molecular profiling approach precisely analyzes DNA, RNA, and protein biomarkers, revealing the highest quality molecular blueprint for evidence-based selection of the most appropriate cancer therapy. (carislifesciences.com)
Caris molecular profiling performs thorough molecular testing on DNA, RNA and proteins to identify the biomarkers driving a patient's tumor, and to compare the biomarkers with data from clinical studies around the world. (carislifesciences.com)
In this 6-week course, students will learn thermodynamics of various biomolecular processes, including conformational changes, molecular association / dissociation, and protein-drug interactions. (utmb.edu)
The course deals with the fundamental forces that provide the bases for molecular interactions, and the translation of these forces into the structure and function of proteins and nucleic acids. (utmb.edu)
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)
Overall, the molecular and biologic characteristics of the strain HSR1 provide evidence that SARS-CoV forms a fourth genetic coronavirus group with distinct genomic and biologic features. (cdc.gov)
Molecular neuroscience has largely focused on the functions of protein-coding genes, which account for less than 2% of our DNA. (lu.se)

Since identification of EZH2 in the research of protooncogene product Vav [ 3 ], studies have shown that EZH2 is highly expressed in tumorigenesis, which regulates the expression of tumor suppressor genes, such as in breast cancer, prostate cancer, and lung cancer [ 4 - 6 ]. (hindawi.com)
This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. (wikipedia.org)
This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)

To do this, we examine the non-redundant viral diversity stored in public databases, predict proteins in genomes lacking such information, and used all annotated and predicted proteins to identify potential protein domains. (mdpi.com)
Clustering of Gene Ontology Terms in Genomes. (lu.se)

Intriguingly, some of the top-ranked transcripts are noncoding splicing isoforms, which imply diverse gene regulation mechanisms. (nature.com)
gene loci structures and their regulation. (nature.com)
Likewise, different transcriptional controllers are able to alter Drp1 activity through gene expression and regulation. (wikipedia.org)
We conclude that protein function is informative across species in predicting post-transcriptional miRNA regulation in living cells. (frontiersin.org)
The VHL protein likely plays a role in other cellular functions, including the regulation of other genes and control of cell division. (medlineplus.gov)
Defective regulation of iron homeostasis genes lead to either, iron excess and related tissue injuries due to iron-stimulated oxidative damage or iron deficiency disorders. (jnu.ac.in)
Dr. Paul Fox, Cleveland Clinic Foundation, USA- Posttranscriptional Gene Regulation. (jnu.ac.in)
Dr. Amitabha Mukhopadhyay, National Institute of Immunology, New Delhi- Regulation of Rab proteins by cytokines. (jnu.ac.in)

Subsequent genomic sequence analysis of multiple genes including elongation factor 3, a component of fungi protein synthesis not found in protozoa, further supported this notion. (medscape.com)
Gopinathan, Karumathil P. (1994) Structural proteins of mycobacteriophage I3: cloning, expression and sequence analysis of a gene encoding a 70-kDa structural protein Gene, 143 (1). (ias.ac.in)
Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.org)
Polymerase chain reaction (PCR) was conducted using groEL PCR-restriction fragment length polymorphism and sequence analysis. (who.int)

As one of the two distinct complexes, namely, Polycomb Repressive Complex 1 (PRC1) and PRC2, PRC2 mediates gene silencing by modulating chromatin structure [ 2 ]. (hindawi.com)
Distinct genomic variability exists between host-specific members of the genus. (medscape.com)
To begin, we hypothesize that distinct morphological features, in other words, hairiness are a result of Wookiee specific protein-coding gene(s). (ubc.ca)

DMRs show continuous gain or loss of methylation during differentiation, and the overall change in DNA methylation correlates inversely with gene expression at key loci. (lu.se)

The differentially expressed genes (DEGs) related to LUAD were screened by using the limma package. (hindawi.com)
The protein-protein interaction (PPI) of differentially expressed genes was drawn by the STRING website, and the results were imported into Cytoscape for visualization. (hindawi.com)
The PPI network of differentially expressed genes consists of 269 nodes and 625 interactions. (hindawi.com)
Differentially expressed genes were obtained by comparing gene expression between lung adenocarcinoma samples and normal samples. (hindawi.com)
Cell proteins were analysed with 2-dimensional electrophoresis and differentially expressed proteins were identified by matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry. (who.int)
Our preliminary study using 2D isolates were recovered from liq- new cases throughout the world cu- gel electrophoresis in drug sensitive/ uid nitrogen, and sub-cultured in taneous leishmaniasis (CL) remains resistant strains of L. tropica showed RPMI1640 medium (Gibco/BRL) a serious public health problem in that some proteins were differentially supplemented with 10% fetal bovine numerous countries [1,2]. (who.int)

The downstream transformation of BA involved a meta -cleavage pathway, although its genetic organization and function was not revealed and the overall network of genes driving the full metabolic pathway of OPP is still not known. (nature.com)
These genetic changes are thought to have similar effects on protein function to those of the Arg200Trp mutation. (medlineplus.gov)
For the first time it is possible to complement our genetic understanding of the disorder with substantial evolutionary and comparative genomic analyses," said Dr Dorus. (sciencedaily.com)
In this work we proposed to study the role of genetic polymorphism of the eNOS G894T gene in the development of diabetes on the one hand and of these degenerative complications other. (scirp.org)
Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell. (medlineplus.gov)
This resource includes tools for clinical, biochemical, genetic, structural and computational analyses as well as links to related information maintained by others. (lu.se)

However, alternatively compounded patterns of human protein-coding gene transcripts would complicate gene expression data processing and interpretation. (nature.com)
For genes encoding the disrupted interactions, we evaluate their expression patterns across developing brains and within specific cell types, using both bulk and inferred cell-type-specific brain transcriptomes. (springer.com)
Using the newly released and larger ASC dataset, we confirm these observations and take them in several new directions: (1) By defining a set of genes encoding these disrupted protein interactors in ASD subjects and another for their siblings, we evaluate their expression patterns in developing brain from fetal to early postnatal development and within general cell types of brain tissue. (springer.com)
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. (nih.gov)
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. (nih.gov)
This risk assessment was not dependent on the type of adju- decoding patterns of immunoregulatory serum proteins could re- vant therapy received by the patients. (lu.se)
Relative levels of gene expression throughout development were determined by quantitative polymerase chain reaction (PCR) analysis and in cases where sufficient specific gene sequence was acquired, ribonucleic acid (RNA) probes were generated to evaluate the spatial expression patterns during the period of organogenesis. (europa.eu)
The deduced amino-acid sequence of the 70-kDa protein and the codon usage patterns indicated the preponderance of codons, as predicted from the high G + C content of the genomic DNA of phage 13. (ias.ac.in)
protein patterns of subjects with leish- Cell culture maniasis [17]. (who.int)

The genes on chromosome arm 1AS and chromosome arm 5AL were stable across all field experiments and together explained up to 60% of the variation in leaf rolling. (usda.gov)
The RBM8A gene is found on chromosome 1 . (medlineplus.gov)

Distinctive tissue specific expression profiles and modulations could be observed for individual top-ranked transcripts of protein-coding genes. (nature.com)
These studies provided us more information on the spliced transcript isoforms of protein-coding genes as well as more understanding on their expression profiles and translated protein products in human tissues and diseases. (nature.com)
For example, PPARGC1A and [HIF1A] regulated Drp1 activity through gene expression. (wikipedia.org)
Their gene expression during brain development and within cell types highlights how they relate to ASD. (springer.com)
Here, we identified the coding sequence of the EZH2 gene and characterized its expression pattern in fetal tissues of Duroc pigs at 65- and 90-day postcoitus (dpc). (hindawi.com)
Polycomb Group (PcG) proteins are a family of protein complex that regulate gene expression, especially repressing gene transcription [ 1 ]. (hindawi.com)
Furthermore, the decreased expression of the EZH2 gene is crucial for stem cell differentiation into specific cell lineages involved in myogenesis, adipogenesis, osteogenesis, neurogenesis, and haematopoiesis [ 9 ]. (hindawi.com)
Thus, the appropriate expression level of the EZH2 gene is important for embryonic development. (hindawi.com)
However, the transcript and expression status of the EZH2 gene during porcine embryonic development remains unknown. (hindawi.com)
A flavin-dependent monoxygenase (OppA1), one of the most up-regulated proteins in the OPP-growing cells, was isolated via heterologous expression and its catabolic activity was verified in vitro . (nature.com)
We have prepared an extensive catalog of the gene expression changes that occur during morphologic maturation. (yale.edu)
Three gene expression datasets including GSE116959, GSE74706, and GSE85841 downloaded from the Gene Expression Omnibus (GEO) database were used in this study. (hindawi.com)
In recent years, gene expression profiling chips have been widely used in the research fields of various diseases to reveal the association between diseases and genes and provide valuable clues for the pathogenesis of diseases to determine the diagnosis and prognosis of cancer [ 5 ]. (hindawi.com)
Nuclear Receptors (NRs), that include steroid hormone receptors, are intra-cellular transcription factors that regulate gene expression in response to their cognate ligands. (jnu.ac.in)
Spatial expression analysis of both genes revealed that Sof-RXR is expressed ubiquitously in all cells of the embryo, including the chondrocytes, whereas Sof-ALDH was expressed only in a sub-set of epithelial cells and no expression at the level of chondrocytes was observed. (europa.eu)
CONCLUSIONS: To our knowledge, this is the first identification and expression analysis of fish TNFSF 13b. (usda.gov)
Successful cloning and expression of the 70-kDa protein-encoding gene of phage I3 in Escherichia coli and its complete nucleotide sequence determination have been accomplished. (ias.ac.in)
Moreover, C. albicans Hom6p affects expression of the cell wall protein Xog1p which is a major exoglucanase and is found to be involved in cell adhesion. (ncl.edu.tw)
We speculated that the defect of protein synthesis attenuated expression of other exoglucanases or glucan synthesis-related proteins, and then induced release of Xog1p to the cell wall. (ncl.edu.tw)
However, the gene expression and activity of antioxidative enzymes had no differences between wild type and the zcf29zcf29 mutant. (ncl.edu.tw)
In addition, the expression of ERG2, ERG24 and ERG11 genes and the ergosterol content had no differences between wild type and the mutant. (ncl.edu.tw)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)

The purpose of this study is to identify the hub genes associated with LUAD by bioinformatics methods. (hindawi.com)
The bioinformatics methods are widely used to study lung adenocarcinoma, and MCODE [ 6 ] is used to build clustering in the vast network of gene function modules. (hindawi.com)
In order to further find key genes of a complex network, this study proposed the research methods combining MCODE and cytoHubba. (hindawi.com)
Methods and analysis 27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplified exons. (bmj.com)
METHODS: To identify expressed TNFSF genes, we searched a computer database of ~50,000 rainbow trout expressed sequence tags generated at the National Center for Cool and Cold Water Aquaculture. (usda.gov)
Recently, there have been numerous computational methods developed to predict human essential genes from population genomic data. (biomedcentral.com)
Compared with previous methods, DeepLOF shows unmatched performance in predicting ClinGen haploinsufficient genes, mouse essential genes, and essential genes in human cell lines. (biomedcentral.com)
Notably, at a false positive rate of 5%, DeepLOF detects 50% more ClinGen haploinsufficient genes than previous methods. (biomedcentral.com)
The rationale behind these prediction methods is that essential genes, with minimal inter-individual variation, are subject to purifying selection in order to maintain their sequence in the population, as alterations would lead to reduced fitness. (biomedcentral.com)
The limitation of current population genomics-based methods for determining LOF intolerance is they are underpowered when predicting genes that are short in length. (biomedcentral.com)
This includes the analysis and prediction of interactions between biomolecules as well as the application of algorithmic methods in the design of new, pharmaceutically relevant drugs. (uni-hamburg.de)

The first VHL gene mutation related to familial erythrocytosis was identified in the Chuvash population of Russia. (medlineplus.gov)
The mutation changes a single protein building block (amino acid) in the VHL protein, replacing the amino acid arginine with the amino acid tryptophan at position 200 (written as Arg200Trp or R200W). (medlineplus.gov)
This mutation disrupts the function of the VHL protein, particularly its ability to target HIF-2α to be broken down. (medlineplus.gov)
We found that by comparing frameshift and point mutation cases in 27 Chinese patients with TCIRG1-IMO, severity of the ocular manifestations was related to the type of gene mutation, and the frameshift mutation in TCIRG1 led to more serious phenotypes. (bmj.com)
Future studies should assess the correlation of TCIRG1 gene mutation and the mechanism of ocular sign occurrence. (bmj.com)
The researchers also compared previous genomic analyses of TCGA and Hong Kong (HK) GC cohorts - which mostly included late-onset GCs - to their own data and found that the EOGCs showed a different mutation landscape than the late-onset cancers (LOGCs). (genomeweb.com)

Alterations in genes with potential clinical utility are observed in more than three quarters of the cases and included members of the PI3-kinase and homologous DNA repair pathways. (nih.gov)

Final Activity Report Summary - MACROPHAGE GENOMICS (Genomic Screens to Identify and Characterize Mechanisms of Mycobacterial Killing by Macrophages. (europa.eu)

When applied to the field MWF samples, the developed assay was found to be comparable to the real-time PCR assay, and allowed direct speciation of MWF mycobacteria without sequencing and/ or restriction pattern analysis. (cdc.gov)

But the TCGA approach, which was performed using reverse-phase protein arrays, is limited by antibody availability. (genomeweb.com)
An antibody is used to precipitate a protein along with bound proteins. (genomicglossaries.com)

In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5' untranslated region, and a transcript encoding a 232-amino acid protein. (nih.gov)
One major difficulty confronted is complex alternatively spliced transcript isoforms in human protein-coding genes. (nature.com)

ABSTRACT In order to define the protein expressional changes related to the process of meglumine antimoniate resistance in anthroponotic cutaneous leishmaniasis (CL), we performed a comparative proteomics analysis on sensitive and resistant strains of Leishmania tropica isolated from Iranian CL patients. (who.int)

The absence of genomic resources renders the search for paralogous cuttlefish genes dependent upon the presence of highly conserved protein motifs within genes of interest, thus we used a degenerate primer strategy to isolate partial coding sequence from the conserved domains specific to these families. (europa.eu)
Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. (medlineplus.gov)

The pvtramp gene was amplified from cDNA of P. vivax schizont stages, cloned and expressed in Escherichia coli . (biomedcentral.com)

Here we perform whole-exome analyses of 22 tumours using massively parallel sequencing to determine the mutational landscape of this tumour type. (nih.gov)
Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). (springer.com)

Transcription analysis of all putative catabolic genes established their role in the metabolism of OPP. (nature.com)
Transcription analysis verified the key role of the catabolic operons located in the 92-kb scaffold, and flanked by transposases, on the transformation of OPP by S. haloaromaticamans . (nature.com)
Arrows represent predicted genes and their respective transcription strands (forward/reverse). (biomedcentral.com)
We focus our attention on three families of transcription factors that are known to have roles in vertebrate chondrogenesis: Sox and the Ant- and Prd- class families of the homeodomain proteins. (europa.eu)
The basic format of the yeast-two hybrid system involves the creation of two hybrid molecules, one in which the " bait ' protein is fused with a transcription factor, and one in which the " prey " protein is fused with a related transcription factor . (genomicglossaries.com)
These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)

We conclude that duplicated paralogous genes that often changed their function, also diverse in their tendency to be miRNA regulated. (frontiersin.org)

Much of bioinformatics is centred about the analysis, interpretation and modelling of this data. (uni-hamburg.de)
Structural bioinformatics concentrates on model building and numerical simulation in areas such as protein or RNA structure and design of new molecules. (uni-hamburg.de)

Our finding that positive evolutionary processes have impacted genes underlying the disorder is consistent with this idea. (sciencedaily.com)

To do this, we used 3 -end differential display, oligonucleotide chip array hybridization, and two-dimensional protein electrophoresis (2DE). (yale.edu)
The structural proteins of mycobacteriophage 13 have been analysed by sodium dodecyl sulfate-polyacrylamide-gel electrophoresis (SDS-PAGE), radioiodination and immunoblotting. (ias.ac.in)

Proteomics identified 13 up-regulated catabolic proteins when S. haloaromaticamans was growing on OPP and/or BA. (nature.com)
The study shows the usefulness of proteomics in identifying proteins that may express differences between sensitive and resistant L. tropica isolates. (who.int)

We identified zebrafish and Fugu TNFSF 13b homologues by genomic DNA database searches and determined that the predicted proteins share 68% and 76% sequence identity with trout TNFSF 13b. (usda.gov)

T-cell immune regulator 1 (TCIRG1) is one of the main genes that are responsible for the majority of infantile malignant osteopetrosis (IMO) cases, which are characterised by neonatal and infantile onset, a systemic sclerosis of bones, vulnerability to fracture, progressive anaemia, infection, hepatosplenomegaly and cranial nerve dysfunction, including poor gaze qualities, optic atrophy and optic canal stenosis. (bmj.com)

Putative large exoproteins and a putative protein with a RTX toxin-type ß-roll could be identified. (dsmz.de)
For this purpose, NLRP3 homology model was built and the putative protein binding region of a non-covalent inhibitor MCC950 (used as a probe) was investigated using a combination of in silico techniques. (mdpi.com)
The main aim was to detect putative protein hot spots involved in the stabilization of protein-ligand complex. (mdpi.com)

In the Lab of Epigenetics and Chromatin Dynamics ( https://www.stemcellcenter.lu.se/research-groups/douse ) we are interested in how this genomic dark matter is controlled by epigenetic mechanisms during human brain development. (lu.se)
We have a particular focus on how different protein complexes package repetitive DNA into chromatin, and how chromatin influences transcriptional dynamics. (lu.se)

The predictive power of DeepLOF shows that it is a compelling computational method to aid in the discovery of essential genes. (biomedcentral.com)

Our results show that the GLABR gene is responsible for robust hair growth in Wookiees, and that inactivation of this gene results in reduced androgenic hair growth or hairless phenotype. (ubc.ca)

Alternative splicing of gene can generate multiple transcripts and proteins to regulate tissue and organ development [ 17 ]. (hindawi.com)

Genes encoding disrupted complementary interactors tend to be risk genes, and an interaction network built from these proteins is enriched for ASD proteins. (springer.com)

Among these genes, the rice orthologs of TraesCS1A03G0023500 and TraesCS1A03G0027900 in the QRl.hwwg-1AS interval and TraesCS5A03G0631600, TraesCS5A03G0631700 and TraesCS5A03G0657300 in the QRl.hwwg-5AL interval have been cloned previously and demonstrated to regulate RL through modulating cell morphology in rice. (usda.gov)
Further examination of the annotated orthologs was completed to determine if these were old genes that became inactivated in wookiees. (ubc.ca)

Proteomic and genomic approaches reveal critical functions of H3K9 methylation and heterochromatin protein-1gamma in reprogramming to pluripotency. (ca.gov)
Similarly, we find that inhibition of heterochromatin protein-1gamma (Cbx3), a protein known to recognize H3K9 methylation, enhances reprogramming. (ca.gov)

Across cell types, these genes affect neuronal morphogenesis and neuronal communication, while neural progenitor cells show strong enrichment for development of the limbic system. (springer.com)
Their ability to maintain cell and tissue homeostasis is critical, with many miRNA genes implicated in human diseases such as metabolic, inflammatory, and neurodegenerative diseases ( Vishnoi and Rani, 2017 ). (frontiersin.org)
This complex targets other proteins to be broken down (degraded) by the cell when they are no longer needed. (medlineplus.gov)
HIF controls several genes involved in cell division, the formation of new blood vessels, and the production of red blood cells. (medlineplus.gov)
Sincle cell genomic analysis of the bacteria constituting different types of phototrophic consortia indicate a long-term co-evolution of the partners. (dsmz.de)
The results of GO analysis showed that the downregulated genes were significantly enriched in matrix adhesion and angiogenesis and upregulated differential genes were significantly enriched in cell adhesion and vascular development. (hindawi.com)
NEW YORK (GenomeWeb) - In a study published today in Cancer Cell , researchers from South Korea, the Netherlands, and the US National Institutes of Health reported their new proteogenomic analysis of diffuse gastric cancers (GCs) in young populations, identifying four subtypes of the disease. (genomeweb.com)
They also further defined subtype 1 as representing cell proliferation-related processes (cell cycle and DNA replication RNA processing, translation, and protein degradation). (genomeweb.com)
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)
This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (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)
Many of these genes are responsible for providing the positive signals that lead to cell division. (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)
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)
The deletion eliminates one copy of the RBM8A gene in each cell and the RNA-binding motif protein 8A that would have been produced from it. (medlineplus.gov)
However, in 2006 it was discovered that mature cells can be experimentally reset into a pluripotent state, known as induced pluripotent stem cell, by the introduction of just a few specific genes. (ca.gov)
C. albicans Hom6p thus had an effect on cell survival and cell adhesion by maintaining protein synthesis and cell wall function. (ncl.edu.tw)
The assay showed a minimum detection limit of 10 fg genomic DNA or 1 mycobacterial cell, albeit with variations depending on type and composition of the MWF matrix. (cdc.gov)
Ultrastructural analysis of infected Vero cells showed the virions within cell vesicles and around the cell membrane. (cdc.gov)

Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells. (medlineplus.gov)

Therefore, population genetics-based prediction of LOF-intolerant genes is a powerful strategy to discover haploinsufficient genes associated with human disease. (biomedcentral.com)

The VHL protein is also involved in the formation of the extracellular matrix, which is an intricate lattice that forms in the spaces between cells and provides structural support to tissues. (medlineplus.gov)
Based on their abundance the 34-and 70-kDa bands appeared to represent the major structural proteins. (ias.ac.in)
Using structural equation modelling, the mediation analyses enhanced with Mendelian randomization analysis, showed a likely causal putative association between carbohydrate intake and T2D. (lu.se)

A complete BLASTP search of all human, and Wookiee proteins from Ensembl (Hubbard et al . (ubc.ca)
Several genes with strong associations to schizophrenia have evolved rapidly due to selection during human evolution, according to new research. (sciencedaily.com)
The trout TNFSF 13b predicted protein shares 54% amino acid identity with human and chicken TNFSF 13b, and 51% identity with mouse TNFSF 13b. (usda.gov)
HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
Determining which genes are LOF intolerant can aid with discovery of human disease genes. (biomedcentral.com)

Gene Ontology (GO) and KEGG analysis of DEGs were carried out through the DAVID website. (hindawi.com)

Analysis of this HA gene shows that it is closely related to avian A(H5) viruses in HA clade 2.3.4.4b and lacked amino acid changes that improve recognition of mammalian receptors or fusion of the viral membrane with the host endosomal membranes. (cdc.gov)

Since its first release in 2007, it has been widely employed to analyze lists of genes in order to interpret the underlying biological mechanisms. (biorxiv.org)
Finally, the GEPIA database and UALCAN database were used to verify and analyze the survival of hub genes. (hindawi.com)

the creation of a large number of compounds (usually proteins or peptides) through technologies such as phage display . (genomicglossaries.com)

The Wnt genes encode secreted glycoprotein ligands that regulate a wide range of developmental processes, including axis elongation and segmentation. (biomedcentral.com)

Dynamin-1-like protein is a GTPase that regulates mitochondrial fission. (wikipedia.org)
Dysfunction in the DRP activity may result in mutated DNA or malfunctioning proteins diffusing throughout the mitochondrial system. (wikipedia.org)
In the 1980s, biochemical analysis of the nucleic acid composition of Pneumocystis rRNA and mitochondrial DNA identified the organism as a unicellular fungus rather than a protozoan. (medscape.com)

A region of 10 genes or less was deemed an acceptable gap between anchors, and thus variability in the gene order was allowed. (ubc.ca)

6 identified a gene cluster, hbpCAD , encoding the upper metabolic pathway of OPP which involves the transformation of OPP to 2-hydroxypenta-2,4-dienoateand benzoic acid (BA). (nature.com)
KEGG pathway analysis showed that the differential genes of LUAD were significantly enriched in viral carcinogenesis and adhesion spots. (hindawi.com)

Symbiosis genes" of the epibiont were identified by genomic approaches. (dsmz.de)

Researchers found a higher prevalence of the influence of so-called positive selection on genes or gene regions known to be associated with the disorder than a comparable control set of non-associated genes, functioning in similar neuronal processes. (sciencedaily.com)
and tumors with chromosomal instability showing aneuploidy and amplifications of genes encoding receptor tyrosine kinases, the researchers said. (genomeweb.com)
The researchers also performed global proteome, phosphoproteome, and N-glycoproteome profiling of paired tumor and adjacent normal tissues using liquid chromatography-tandem MS analyses. (genomeweb.com)

We identified 67 upregulated genes and 277 downregulated genes from three LUAD datasets. (hindawi.com)

Anatomy8

Organisms42

Diseases4

Chemicals and Drugs35

Analytical, Diagnostic and Therapeutic Techniques and Equipment39

Phenomena and Processes128

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science12

Health Care6

Mutations21

Genome17

Annotation3

Transcriptomic3

Phylogenetic4

Functional11

Implicate novel genes1

Proteomic analysis1

Characterization4

Integrative4

Transcriptome data2

Humans6

MRNA13

Variants8

Sequences5

Molecular10

Tumor suppr2

Encodes a protein2

Genomes2

Regulation8

Sequence analysis4

Distinct3

Loci1

Differentially6

Genetic6

Patterns9

Chromosome2

Expression22

Methods11

Mutation6

Pathways1

Genomics1

Mycobacteria1

Antibody2

Transcript2

Comparative1

Highly conserved2

CDNA1

Exome2

Transcription6

Paralogous1

Bioinformatics2

Evolutionary1

Electrophoresis2

Proteomics2

Zebrafish1

Main genes1

Putative protein3

Chromatin2

Computational1

Phenotype1

Transcripts1

Complementary1

Orthologs2

Methylation2

Cell20

Degradation1

Genetics1

Structural3

Human5

Ontology1

Mammalian1

Analyze2

Phage1

Elongation1

Mitochondrial3

Variability1

Pathway2

Approaches1

Researchers3

Datasets1