MutationsGenesKaryotypeChromosomalFluorescentCytogeneticsChromosomeMicroarrayAnalysesCharacterizationDeletionsClinicalSignaling pathwayCytogeneticBiomarkersPloidyRecurrentTumorMethodsGeneticDissociationPhosphorylationMolecularGenomesAssaysAmplificationsArrayArraysAnalysisCNVsEpigeneticDataSpeciesFISHResultsNuclearIsoformsCancersIntracellularAmino-terminalHypothesisInhibitorsApparentlyDiagnosticCytosolExpressionCellsImportantStudiesRegulationSecondaryDescribeRole
Mutations6
- Oncogenic point mutations in KIT or PDGFRA are recognized as the primary events responsible for the pathogenesis of most gastrointestinal stromal tumors (GIST), but additional genomic alterations are frequent and presumably required for tumor progression. (biomedcentral.com)
- In addition to clinico-pathological high-risk groups, patients with KIT mutations, genomic complexity, genomic gains and deletions at either 1p or 22q showed a significantly shorter disease-free survival. (biomedcentral.com)
- Scope includes mutations and abnormal protein expression. (cancerindex.org)
- Truncating RAD21 variants are shown above, and missense mutations and in-frame deletions are shown below the protein representation. (springer.com)
- While direct sequencing revealed no mutations in the target DHODH gene, comparative genomic hybridizations from four independently selected DSM1-resistant clones showed a large, single 34-95kb amplification in each clone. (omicsdi.org)
- It uses NGS to gauge mutations in the coding regions of the genes of interest and confirms the findings by Sanger sequencing. (genomeweb.com)
Genes9
- For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
- The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
- Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
- 2003). More recently, array comparative genomic hybridization (CGH) analyses indicate that genomic loss at the Ptch1 locus was the fourth most commonly detected change among the tumor suppressor genes identified in the study, occurring in 19 percent of human breast cancers and 33 percent of breast cancer cell lines (Naylor et al. (bcm.edu)
- AS is a classic example of genomic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. (medicalmarijuana.com)
- The 37-Mb genome was predicted to contain a total of 12,074 genes encoding proteins with a length greater than 100 amino acid residues (see Methods). (nature.com)
- Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
- Our findings demonstrate that four-tier assessment of WES data is efficient and can detect novel candidate genes associated with hearing loss, in addition to pathogenic variants of known deafness genes. (biomedcentral.com)
- In another research, repeated deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF in MF was noticed.4 Genomic patterns characteristic of MF differ markedly from SS.5 This may implicate discriminative molecular pathogenesis and various therapeutic requirements. (techblessing.com)
Karyotype1
- Karyotype and array comparative genomic hybridization were normal. (cdc.gov)
Chromosomal2
- This resulted in the finding of a chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma (T-LBL). (wikipedia.org)
- In addition to KIT/PDGFRA mutational status, our findings indicate that secondary chromosomal changes contribute significantly to tumor development and progression of GIST and that genomic complexity carries independent prognostic value that complements clinico-pathological and genotype information. (biomedcentral.com)
Fluorescent2
- CNVs can be detected using cytogenetic techniques such as fluorescent in situ hybridization, array-based comparative genomic hybridization, and SNP genotyping arrays. (biomedcentral.com)
- Further cytogenetic study using standard metaphase fluorescent in situ hybridization (FISH) technique was applied to cultured lymphocytes from peripheral blood, hybridized using green control probe specific to 9q21 loci, and red DMRT1 probe specific to 9p24.3 loci. (biomedcentral.com)
Cytogenetics2
- Genome-screening methodologies, such as conventional cytogenetics and comparative genomic hybridization (CGH), have been applied in order to identify these changes. (biomedcentral.com)
- Among the most consistent cytogenetics findings are fragile X and duplication of maternal 15q11-q13. (neurotransmitter.net)
Chromosome4
- Chromosome 12 Open Reading Frame 42 (C12orf42) is a protein-encoding gene in Homo sapiens. (wikipedia.org)
- For a subset of 29 tumors, comparative genomic hybridization was additionally used to screen for chromosome copy number aberrations. (biomedcentral.com)
- In 1986, the NF2 gene was mapped to chromosome 22, and in 1993, two groups independently isolated the gene and named its encoding protein merlin or schwannomin. (bmj.com)
- Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
Microarray1
- These findings should be verified using techniques that can detect smaller genetic changes, such as microarray-CGH. (bmj.com)
Analyses1
- New DNA sequencing technologies have enabled detailed comparative genomic analyses of entire genera of bacterial pathogens. (biomedcentral.com)
Characterization2
- Molecular characterization of this cell line revealed low expression levels and activity of Retinoblastoma protein and elevated basal levels of Erk1/2 activity and p70S6K expression and activity, which may be related to chemoresistance mechanisms. (biomedcentral.com)
- By characterization of the genomic, transcriptional, and DNA methylation landscape in lung cancer subgroups defined by histology and other clinicopathological factors in both own and public cohorts we search for new molecular subgroups of potential clinical relevance, additional targets for synergistic treatment, and a deepened understanding of the molecular pathogenesis. (lu.se)
Deletions4
- Using quantitative PCR assays, the test gauges large deletions and duplications with BRCA1/2 and confirms the results by array comparative genomic hybridization. (genomeweb.com)
- Here, we report our findings on 93 individuals with terminal 6q deletions and 11 individuals with interstitial 6q26q27 deletions, a cohort that includes 38 newly identified individuals. (biomedcentral.com)
- Based on our findings, we provide recommendations for clinical follow-up and surveillance of individuals with terminal 6q deletions. (biomedcentral.com)
- 3 ] described another 28 individuals with pure terminal 6q deletions diagnosed by conventional cytogenetic methods or array CGH, with all findings confirmed by FISH. (biomedcentral.com)
Clinical5
- Genotype and genomic findings were cross-tabulated and compared with available clinical and follow-up data. (biomedcentral.com)
- According to comparative genomic hybridization (CGH) data published in the literature, the simple and complex karyotypes show a correlation between the prognosis and clinical outcome. (biomedcentral.com)
- Being familiar with the clinical and cytomorphologic features of these lesions, appropriately triaging the diagnostic material for ancillary testing, and correlating with radiologic findings are important in arriving at correct diagnoses and guiding management. (allenpress.com)
- Historically, the diagnosis was based entirely on clinical findings. (e-apem.org)
- By a combined clinical and molecular approach the current project focuses on improving the molecular understanding of lung cancer and translate research findings into a clinical diagnostic setting. (lu.se)
Signaling pathway1
- The RAS-RAF-MEK-ERK signaling pathway regulates cell reactions to environmental stimuli and takes on a crucial part in many malignancies.6 Thus, RAF and MEK are attractive therapeutic focuses on.7,8 RAS is a little guanine-nucleotide binding proteins that is mounted on the inner part from the plasma membrane. (techblessing.com)
Cytogenetic1
- Cytogenetic and molecular genetic findings were integrated and correlated with clinico-pathological parameters, including imatinib/sunitinib therapy response. (biomedcentral.com)
Biomarkers1
- To identify operable lung cancer patients with risk for metastatic relapse we search for new prognostic biomarkers based on analysis of genome-wide gene expression data and conventional protein marker validation based on analysis of primary tumor tissue. (lu.se)
Ploidy1
- For this reason, we performed a fine-tuned interpretation of our DNA ploidy results and compared these to high-resolution comparative genomic hybridization (HR-CGH) outcome, by using the same samples. (biomedcentral.com)
Recurrent1
- Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
Tumor2
- The protein may be useful as a tumor marker. (cancerindex.org)
- To explore the entire anatomy of the neoplastic genome in black ESCC, we performed comparative genomic hybridization (CGH) on a panel of 17 matched pairs of tumor and control esophageal tissues [ 13 ]. (biomedcentral.com)
Methods1
- Unlike Myriad, however, Pathway and most other BRCA testing providers are contributing de-identified test data to ClinGen , an-NIH funded effort to build a public, annotated database of genomic variants using standardized classification methods. (genomeweb.com)
Genetic3
- Immunohistochemistry (IHC) staining can be used as an indirect approach to identify genetic variants by detecting protein aberrations (eg, BRAF V600E and c-KIT). (arupconsult.com)
- 1999) Molecular genetic aspects of oligodendrogliomas including analysis by comparative genomic hybridization. (forextrading-madeeasy.com)
- Taken together, these findings highlight the remarkable interplay of genetic and environmental factors in the pathogenesis of African-American ESCC. (biomedcentral.com)
Dissociation1
- Phosphorylation of tegument proteins is normally believed to are likely involved in tegument proteins dissociation (28). (thebiotechdictionary.com)
Phosphorylation4
- Nuclear proteins are known for having phosphorylation, acetylation, sumoylation, and O-GlcNAc as types of modifications:[citation needed] Phosphorylation affects proteins-protein interaction and the stability of the protein. (wikipedia.org)
- Both mobile and virally encoded kinases get excited about the phosphorylation of tegument protein (5, 11, 12), and serines of tegument proteins HSV-1 VP22 are phosphorylated in contaminated cells (11, 12). (thebiotechdictionary.com)
- Proof also shows that tyrosine phosphorylation is normally involved with HSV-1 replication because (we) HSV-1 penetration sets off tyrosine phosphorylation of mobile protein (1, 35), (ii) many viral protein are tyrosine phosphorylated during an infection (3, 30), and (iii) HSV-1 replication is normally inhibited in the current presence of tyrosine kinase inhibitors (13, 44C46). (thebiotechdictionary.com)
- Also, bovine herpesvirus 1 (BHV-1) glycoprotein E (gE) is normally tyrosine phosphorylated during viral replication as well as the titer of trojan is normally proportional to the amount of phosphorylation of the envelope proteins (39). (thebiotechdictionary.com)
Molecular3
- We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. (springer.com)
- These findings support the hypothesis that WDLPS and DDLPS might have a common origin, however they also suggest that additional molecular alterations/dysregulations are necessary to account for the dismal prognosis of DDLPS. (sarcomahelp.org)
- 1) Characterize the molecular landscape in TNBC on the DNA, RNA, epigenetic and protein level, through broad high-dimensional analysis techniques and advanced bioinformatics. (lu.se)
Genomes1
- Yersinia genomes had a similar global partition of protein functions, as measured by the distribution of Cluster of Orthologous Groups families. (biomedcentral.com)
Assays1
- Retinoblastoma activity was measured by luciferase assays and proteins levels and activity were analysed by Western blot or immunohistochemistry. (biomedcentral.com)
Amplifications1
- Cytogenic analysis and comparative genomic hybridization (CGH) studies have demonstrated that both WDLPS and DDLPS are characterized by supernumerary ring chromosomes or giant marker chromosomes and12q13-15 region amplifications, resulting in MDM2 and CDK4 overexpression. (sarcomahelp.org)
Array1
- We detected CNVs in rice by array-based comparative genomic hybridization. (biomedcentral.com)
Arrays1
- To detect CNVs, we used a set of NimbleGen whole-genome comparative genomic hybridization arrays containing 718,256 oligonucleotide probes with a median probe spacing of 500 bp. (biomedcentral.com)
Analysis2
- We describe a detailed analysis of protein-ligand interactions between DHODH and a triazolopyrimidine-based inhibitor series to explore the effects of fluorine on affinity and species selectivity. (omicsdi.org)
- Results: All of us initial studied about three RR82 individuals (instances 1-3) together with POR deficiency because of ingredient heterozygosity with the p.R457H mutation along with transcribing malfunction of an apparently regular allele, through oligoarray marketplace analysis genomic hybridization and also sequential immediate sequencing from the deletion fusion details. (mirna21.com)
CNVs1
- During the past several years, hundreds of new variations in repetitive regions of DNA have been identified, leading researchers to believe that copy number variations (CNVs) are as important a component of genomic diversity as single nucleotide polymorphisms (SNPs). (nature.com)
Epigenetic1
Data1
- However, there were no genomic data on the Yersinia species with more limited virulence potential, frequently found in soil and water environments. (biomedcentral.com)
Species1
- In each species DNA has been 'added' by horizontal gene transfer in the form of plasmids and genomic islands. (biomedcentral.com)
FISH1
- The characterisation of the lymphoma cell line U937, using comparative genomic hybridisation and multi-plex FISH. (wikidata.org)
Results2
- Serum insulin-like growth factor (IGF)-I and IGF-binding protein-3 concentrations and prostate cancer risk: results from the European Prospective Investigation into Cancer and Nutrition. (mdc-berlin.de)
- He thanked the regional and global specialized laboratories for their efforts to provide timely results of the genomic sequencing of wild polioviruses, and for their help in planning and monitoring polio eradication activities in the Region. (who.int)
Nuclear2
- This suggests that it is predicted to be a nuclear protein, given the nuclear localization signal (NSL) found: PRDRRPQ at 292 aa and a bipartite KRLIKVCSSAPPRPTRR at 325 aa. (wikipedia.org)
- However, these cells showed loss of heterozygosity affecting Adenomatous Polyposis Coli and nuclear staining of β-catenin protein. (biomedcentral.com)
Isoforms2
- There are three isoforms for this protein produced by alternative splicing. (wikipedia.org)
- Three RAS (KRAS, NRAS, and HRAS), 3 RAF (ARAF, BRAF, and CRAF), 2 MEK (MEK1 and MEK2), and 2 ERK (ERK1 TCS ERK 11e (VX-11e) and ERK2) isoforms compose the canonical mitogen-activated proteins kinase pathway. (techblessing.com)
Cancers1
- Within this research, all of us observed that quercetin decreased how much Her-2/neu health proteins within time- and also dose-dependent ways and also restricted the downstream emergency PI3K-Akt signaling path inside Her-2/ neu-overexpressing cancers of the breast SK-Br3 tissue. (mirna21.com)
Intracellular1
- C12orf42 is an intracellular protein. (wikipedia.org)
Amino-terminal2
- They are synthesised as 45 kDa precursor proteins that are auto-processed into two fragments, an amino-terminal (HhN) and a carboxyterminal (HhC) polypeptide. (biomedcentral.com)
- Merlin has high homology with the ERM proteins (ezrin, radixin, and moesin) and shares an amino-terminal domain. (bmj.com)
Hypothesis1
- This observation is normally in keeping with the hypothesis which the incorporation of tegument proteins is normally partly dependant on local proteins concentration. (thebiotechdictionary.com)
Inhibitors1
- The HGUE-C-1 cell line was sensitive to erlotinib, gefitinib, NVP-BEZ235, rapamycin and trichostatin, among other drugs, but partially resistant to heat shock protein inhibitors and highly resistant to AZD-6244 and oxaliplatin, even though the patient from which this cell line was derived had not been exposed to these drugs. (biomedcentral.com)
Apparently1
- The tegument keeps its structural integrity in the lack of the envelope and capsid, indicating solid intermolecular interactions that has to can be found between these tegument proteins to aid the apparently amorphous framework (7, 27, 40). (thebiotechdictionary.com)
Diagnostic1
- Although he did not meet diagnostic criteria for septooptic dysplasia, the findings may likely represent a congenital syndrome within the broad spectrum of septooptic dysplasia. (hindawi.com)
Cytosol1
- Proteins with this type of structure are able to freely float inside a cell, due to the liquid composition of the cytosol. (wikipedia.org)
Expression5
- Metformin Enhances the Effect of Regorafenib and Inhibits Recurrence and Metastasis of Hepatic Carcinoma After Liver Resection via Regulating Expression of Hypoxia Inducible Factors 2α (HIF-2α) and 30 kDa HIV Tat-Interacting Protein (TIP30). (cancerindex.org)
- Using microdissection, Gli1 protein and mRNA expression were positively correlated with one another. (bcm.edu)
- However, Ptch1 protein and mRNA expression were not positively correlated in these samples, as might be expected based on current models for hedgehog network function. (bcm.edu)
- Loss of expression of the NF2 protein product, merlin, is universal in both sporadic and NF2 related schwannomas. (bmj.com)
- Regardless of mutation type or allelic loss, the loss of expression of the NF2 protein, merlin, appears to be universal in schwannomas. (bmj.com)
Cells4
- [ 3 ] Taken together, these findings have led some to speculate that LCH is not a specific disease of epidermal Langerhans cells, but rather one of mononuclear phagocyte dysregulation. (medscape.com)
- Assignment of body parts begins in the early embryo, when cells look alike but are already fated to become what they will become, thanks to gradients of "morphogen" proteins that program a particular region to elaborate particular structures. (rickilewis.com)
- On the other hand, the quantity of HSV-1 tegument proteins UL37 in virions is normally strictly handled despite a 20-fold boost of UL37 in contaminated cells (25). (thebiotechdictionary.com)
- VP22 relocates to a book subcellular site with another tegument proteins, VP16, in coexpressing cells (7). (thebiotechdictionary.com)
Important1
- It is one of the most important food crops in the world, and a model plant for genomic studies of monocots. (biomedcentral.com)
Studies1
- However, the feasibility of such studies is suggested by these findings. (sarcomahelp.org)
Regulation1
- Hh proteins are secreted morphogens that play essential roles in regulation of embryogenesis, development, tissue homeostasis, regeneration and stem cell maintenance in a concentration-dependent manner [ 6 ]. (biomedcentral.com)
Secondary1
- The third isoform differs from the conical sequence in two ways: 87-107 aa is the sequence GSHHGQATQKLQGAMVLHLEE instead of VFPERTQNSMACKRLLHTCQY the entire sequence 108-360 aa doesn't exist in this isoform C12orf42 protein takes on several secondary structures, such as: alpha helices, beta sheets, and random coils. (wikipedia.org)
Describe1
- We report a case of vertical transmission of TONV from a pregnant woman to her fetus and describe ultrasonographic and fetopathological findings. (cdc.gov)
Role1
- these findings nonetheless contribute to a greater understanding of the role tissue type contributes to the dynamics of virus evolution within a human host. (cdc.gov)