Protein gene comparative genomic hybridization. Medical search. Frequent questions

Using comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH), genotyping, cDNA microarray, and 2-dimensional gel electrophoresis, we obtained some interesting results. (bioseek.eu)
To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
Routine G-banded karyotype, array-based comparative genomic hybridization, and fluorescence in situ hybridization analyses were used to characterize the cytogenetic abnormality in the patient's bone marrow. (hindawi.com)
This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
Empire Genomics provides microarrays and fluorescence in situ hybridization probes. (biosciregister.com)
Mayr D, Hirschmann A, Marlow S, Horvath C, Diebold J. Analysis of selected oncogenes (AKT1, FOS, BCL2L2, TGFbeta) on chromosome 14 in granulosa cell tumors (GCTs): a comprehensive study on 30 GCTs combining comparative genomic hybridization (CGH) and fluorescence-in situ-hybridization (FISH). (cancercentrum.se)

Now in its second edition, Applying Genomic and Proteomic Microarray Technology in Drug Discovery highlights, describes, and evaluates current scientific research using microarray technology in genomic and proteomic applications. (routledge.com)
Here, we examined the expression of the HE4 gene and protein in a large series of normal and malignant adult tissues by oligonucleotide microarray and tissue microarray, respectively. (nature.com)
Well, microarray technology is a developing technology used to study the expression of many genes at once. (semimd.com)
A typical microarray experiment involves the hybridization of an mRNA molecule to the DNA template from which it originated. (semimd.com)
We tried several gene selection strategies, and built classifiers using the resulting cDNA microarray gene lists. (lu.se)
However, by using a prototype plasmid-based microarray that covered 10% of the genome, we found multiple genomic DNA deletions among 30 M. ulcerans clinical isolates of diverse geographic origins. (cdc.gov)
The substantial genomic diversity, along with a prototype microarray that covered a small portion of the genome, suggests that a genome-wide microarray will make available a genetic fingerprinting method with the high resolution required for microepidemiologic studies. (cdc.gov)

In a series of 175 human adult tumors, gene expression was highest in ovarian serous carcinomas. (nature.com)
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)
For a subset of 29 tumors, comparative genomic hybridization was additionally used to screen for chromosome copy number aberrations. (biomedcentral.com)
In particular, in collaboration with the National Institute of Health (NIH) in the United States, we generated a molecular signature that can classify metastatic HCC patients, identified osteopontin as a lead gene in the signature, and found that genes favoring metastasis progression were initiated in the primary tumors. (bioseek.eu)
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. (ox.ac.uk)
To investigate further the potential role of mutated protein kinases in the development of TGCT and to characterize the prevalence and patterns of point mutations in these tumors, we have sequenced the coding exons and splice junctions of the annotated protein kinase family of 518 genes in a series of seven seminomas and six nonseminomas. (ox.ac.uk)
Genomic amplification of FLT3 has been reported in solid tumors including colorectal cancer, breast cancer, and gastric cancer [ 9 ]. (hindawi.com)
The applica tion of new genetic tools also led to the discovery of an important familial neuroblastoma cancer gene, ALK , which is mutated in approximately 8% of sporadic tumors, and genome-wide association studies have unveiled loci with risk alleles for neuroblastoma development. (biomedcentral.com)
CpG methylation of the FHIT, FANCF, cyclin-D2, BRCA2 and RUNX3 genes in Granulosa cell tumors (GCTs) of ovarian origin. (cancercentrum.se)

Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)

Tripartite Motif Containing 13 (TRIM13), a member of TRIM proteins, is deleted in multiple tumor types, especially in B-cell chronic lymphocytic leukemia and multiple myeloma. (cancerindex.org)
Knowledge of the expression patterns of HE4 in our survey is useful for application in histopathologic diagnosis, and should be taken into consideration in future studies that examine the role of HE4 as a serological tumor biomarker or as a target for gene-based therapy. (nature.com)
We studied 5 consecutive cases of GCT involving the distal radius operated by en-bloc resection of tumor followed by reconstruction with ipsilateral non-vascularized fibular graft with a minimum 1 year follow-up. (jbstjournal.com)
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)
Such a segment in the tumor genome may harbor either oncogenes or tumor suppressor genes depending on whether they are present in increased or decreased copy number, respectively. (biomedcentral.com)
Several genes in the mammalian hedgehog signaling network are known oncogenes or tumor suppressor genes. (bcm.edu)
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)
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)
Somatic mutations in fibroblast growth receptor3 and tumor protein p53 in tumor cells appear to be important early molecular events in the noninvasive and invasive pathways, respectively. (healthybladderclub.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)
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)

For these studies, we are examining the duplications in a cohort of patients for clues as to how they were formed using a combination of strategies, including fluorescent in situ hybridization (FISH), array comparative genomic hybridization (aCGH), and junction analysis. (centerforpediatricresearch.org)
Similar to CGH is another method known as Array Comparative Genomic Hybridization, or aCGH. (psychesystems.com)

Endeavors have been made for searching human HCC metastasis-related chromosomes/proteins/genes. (bioseek.eu)
These insertions, deletions, inversions, and duplications result in changes in the physical arrangement of genes on chromosomes. (nature.com)
With the human DNA probe, signals were detected in the major sites of the ribosomal genes on chromosomes 5I (7H) and 6I (6H) only when the chromosome preparations were obtained using an optimized technique with obligatory pepsin treatment followed by hybridization. (centrocardiobogota.com)
results can serve as an important argument in favour of the proposal to develop a special program for sequencing the genome chromosomes and for, To estimate the possibility of plant genome mapping using human genome probes, the probes fluorescent in situ hybridization (FISH) of human 18S-28S rDNA (clon 22F9 from the LA-13NCO1 library) was carried out on chromosomes of the spring barleyHordeum vulgareL. (centrocardiobogota.com)
Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. (hindawi.com)
The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). (hindawi.com)
Double minute chromosomes (dmins) are cytogenetic indicators of extrachromosomal gene amplification which usually act as small spherical paired chromatin particles [ 1 ]. (hindawi.com)
Small sections of chromosomes are identified for scanning and are then immobilized without altering the proteins. (psychesystems.com)
In females (who have two X chromosomes), a mutation usually must occur in both copies of the gene to cause the disorder. (medlineplus.gov)

Fluorescent in situ hybridization (FISH) showing a duplication of PLP1 in a male patient. (centerforpediatricresearch.org)
Fluorescent in situ hybridization, or FISH, is a technique used to identify both acquired and congenital diseases. (psychesystems.com)
Spectral karyotyping analysis (also called chromosome painting) uses chromosome-specific multicolor fluorescent in situ hybridization (FISH) techniques that improve the visibility of certain defects, including translocations and inversions. (msdmanuals.com)

The NF2 gene is a tumour suppressor on chromosome 22. (bmj.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)
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)
2016). Of the, developing literature on XLID provides resulted in the identification greater than 100 genes on the X-chromosome (Lubs et al. (bioskinrevive.com)
Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)
Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
gene is mapped on the wheat chromosome 5B, but, neither obtaining a physical marker nor microdissec-, tion of this chromosomal region gave practical results, [56]. (centrocardiobogota.com)
We will use the model to analyze how tandem gene duplication can alter the myelin program in males and the X-chromosome inactivation pattern in females. (centerforpediatricresearch.org)
Researchers are investigating genes in other regions of the X chromosome that may also be associated with FG syndrome. (medlineplus.gov)
In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
Because it is unlikely that females will have two altered copies of a gene on the X chromosome, males are affected by X-linked recessive disorders much more frequently than females. (medlineplus.gov)

A novel AVPR2 single nucleotide polymorphism affecting the reporter hybridization site gave rise to an artifactually low copy number signal (i.e., less than unity) in one male African American subject. (elsevierpure.com)

The presence of the BEN domains in the BEND2 protein indicates that this protein may be involved in chromatin modification and regulation. (wikipedia.org)
BEN domains are found in a diverse array of proteins and are predicted to be important for chromatin remodeling as well as for the recruitment of chromatin-modifying factors utilized during the process of transcriptional regulation of gene expression. (wikipedia.org)
This technology can be used to come across the changes in expression levels, presence of SNPs, comparative genomic hybridization, chromatin immunoprecipitation (detection of DNA sure to protein), and different makes use of.those advancements in genomic technology are being utilized in research in addition to numerous regions, including scientific diagnostics, therapeutics, and genetic profiling. (popstaffnx.info)

High-depth whole-genome sequencing allows genome-wide sampling of genomic variants such as one nucleotide variants (SNVs), indels, structural variants, and copy amount variants. (bioskinrevive.com)
The term functional genomics can be referred to as the "development and application of global (genome-wide or system-wide) experimental approaches to assess gene function by making use of the information and reagents provided by structural genomics" (Hieter and Boguski, 1997). (centrocardiobogota.com)
Ploidy and MYCN amplification have been used as genetic markers for risk stratification and therapeutic decision making, and, more recently, gene expression profiling and genome-wide DNA copy number analysis have come into the picture as sensitive and specific tools for assessing prognosis. (biomedcentral.com)

Typical comparative genomic hybridization array evaluation revealed a big deletion of exons 1 to 13 within a allele from the gene. (health-ground.com)
For comparison, in the Droso-, phila genome the number of such "gaps" reaches, The Arabidopsis genes are compact, contain se, eral exons (with an average size of 250 bp) separated, by short introns. (centrocardiobogota.com)

Here, we used oligonucleotide and tissue microarrays to survey HE4 gene and protein expression in a large group of malignant and normal tissues from adults. (nature.com)
In addition, oligonucleotide probes are used to analyse gene expression. (scientistlive.com)

Using tissue microarrays and full tissue sections of normal and 448 neoplastic tissues, HE4 immunoreactivity was found in normal glandular epithelium of the female genital tract and breast, the epididymis and vas deferens, respiratory epithelium, distal renal tubules, colonic mucosa, and salivary glands, consistent with HE4 gene expression. (nature.com)
18 With the exception of the ovarian neoplasms, the same carcinomas analyzed for gene expression were also examined for HE4 by immunohistochemistry on tissue microarrays (see below). (nature.com)
DNA microarrays can be used for many purposes, including gene expression profiling, comparative genomic hybridization, SNP detection, etc. (semimd.com)
Instead of detecting and studying one gene at a time, microarrays allow thousands of specific DNA or RNA sequences to be tested within a given moment. (semimd.com)

Most yeast ribosomal protein genes are duplicated and their characterization has led to hypotheses regarding the existence of specialized ribosomes with different subunit composition or specifically-tailored functions. (prolekarniky.cz)
that is crucial for series affirmation, characterization of proteins, peptides and oligonucleotides, and additionally to verify amino acid substitutions in proteins that motive diseases.SNP are unmarried nucleotide variations in the DNA that arise within the populace. (popstaffnx.info)
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)

Arrival of next-era sequencing methods provides accelerated the discovery of brand-new genes involved with mental wellness disorders. (bioskinrevive.com)
Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. (biomedcentral.com)
Despite the rapid advancement of scientific technology, such as whole-exome sequencing and comparative genomic hybridization methods, rare disease diagnosis remains one of the greatest challenges of modern medicine. (gracescience.org)

The current data support previous findings and recapitulate transcriptional regulatory alterations in genes involved in sleep, auditory function, and pain. (frontiersin.org)
We are examining the underlying molecular genetic consequences of two kinds of mutations that cause PMD: mutations that may cause alterations in RNA splicing and gene duplications in and around the PLP1 locus that may alter PLP1 expression. (centerforpediatricresearch.org)
In particular, neoplastic growth induces important modifications, not only of the DNA, but also of the composition and distribution of the histone and non-histone nuclear proteins, thus provoking alterations of the distribution of heterochromatin in the nucleus. (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)
Truncating RAD21 variants are shown above, and missense mutations and in-frame deletions are shown below the protein representation. (springer.com)

The GTPase signalling molecules RhoA and Rac1 regulate merlin function, but to date only mutation in the NF2 gene has been identified as a causal event in schwannoma formation. (bmj.com)
5, 6 The NF2 gene is a tumour suppressor, as corroborated by studies showing complete inactivation of the gene in more than 60% of schwannomas, either by mutation in both alleles or by loss of one allele and mutation in the other. (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)
PCR evaluation of genomic DNA and gene sequencing discovered a single bottom set mutation on the contrary allele at exon 12 producing a body shift and early end codon: c.1266delC p.Y423TfsX18 based on reference series NM_00193536.1 isoform 3 (Amount 2A). (health-ground.com)
If the individual does not have a mutation for the gene, both colors of it such as the red and green samples will bind to the sequences on the chip that represent the sequence without the mutation. (semimd.com)
Our results show a remarkably low mutation frequency, with only a single somatic point mutation, a K277E mutation in the STK10 gene, being identified in a total of more than 15 megabases of sequence analyzed. (ox.ac.uk)

In order to do this, Meléndez and her team are using Qlucore Omics Explorer to perform gene expression and methylation analyses of brain tumour samples and then validating them with data from other databases. (scientistlive.com)
Then they perform supervised analyses to identify differentially methylated or expressed genes. (scientistlive.com)
Supervised analyses have allowed us to identify gene expression profiles associated with more aggressive tumours - findings that have been confirmed by analysing the methylation data with Qlucore,' she concludes. (scientistlive.com)

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)

A growing number of human diseases have been linked to mutations in genes encoding factors involved in ribosome biogenesis and protein synthesis [5] , [6] . (prolekarniky.cz)

They illustrated the activity of the Insv protein in transcriptional regulation of genes and obtained a crystal structure of two Insv BEN domains interacting with their DNA target site. (wikipedia.org)

The longest and most complete transcript of the gene, variant 1, encodes isoform 1 of the BEND2 protein (NP_699177.2). (wikipedia.org)
This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. (cancerindex.org)
The HE4 (WFDC2) gene encodes a WAP-type four disulphide core domain-containing protein with a presumptive role in natural immunity. (nature.com)
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by genetic defects of the proteolipid protein 1 gene (PLP1) that encodes the major central nervous system myelin protein. (centerforpediatricresearch.org)

sig-nificant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). (123dok.org)
Reanalysis of the original comparative genomic hybridization data revealed bona fide CNVs flanking - but not incorporating - the AVPR2 gene, consistent with our new genotyping data. (elsevierpure.com)

Laboratories are demanding ever more sensitivity and reliability from their gene expression analysis technologies. (scientistlive.com)
Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance. (cdc.gov)

Molecular profiling, the global analysis of gene and protein expression profiles, is an emerging promising tool for new biomarker identification in RCC. (biomedcentral.com)
Furthermore, genomic complexity was the best predictor of disease progression in multivariate analysis. (biomedcentral.com)
In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. (biomedcentral.com)
IHC analysis of paraffin blocks from Asian Caucasian patients demonstrated that the frequency of PAFAH1B1 protein overexpression was 68% in Asian and 70% in Caucasian. (biomedcentral.com)
Genome sequence of Cronobacter sakazakii BAA-894 and comparative genomic hybridization analysis with other Cronobacter species. (genome.jp)
Comparative genomic hybridization and LOH analysis using SNP arrays demonstrated that the 13 TGCTs mutationally screened through the 518 protein kinase genes were uniformly aneuploid with consistent chromosomal gains on 12p, 8q, 7, and X and losses on 13q, 18q, 11q, and 4q. (ox.ac.uk)
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)
We used this method for the differential genomic analysis of M. ulcerans, a human pathogen for which the fully assembled and annotated genome sequence was not available at the time of the study. (cdc.gov)
Large numbers of genomic changes have been detected using karyotyping and comparative genomic hybridization analysis in urothelial carcinoma. (healthybladderclub.com)
The company is expanding its product offerings into areas related to PCR, gene expression, sample preparation for next generation sequencing, cellular analysis, epigenetics and RNA analysis. (scientistlive.com)
Identification of an eight-gene signature for survival prediction for patients with hepatocellular carcinoma based on integrated bioinformatics analysis. (cdc.gov)
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)

Four candidate oncogenes were validated for DNA copy number and mRNA and protein expression by quantitative polymerase chain reaction (qPCR), chromogenic in situ hybridization (CISH), reverse transcriptase-qPCR (RT-qPCR), and immunohistochemistry (IHC) in more patients. (biomedcentral.com)

Unlike yeast, most mammalian ribosomal proteins are thought to be encoded by a single gene copy, raising the possibility that heterogenous populations of ribosomes are unique to yeast. (prolekarniky.cz)
Ribosome synthesis is a highly controlled process, whereby three distinct RNA polymerases are synchronously coordinated to produce equimolar amounts of four rRNAs and 79 mammalian ribosomal proteins (RPs) [1] - [4] . (prolekarniky.cz)
analyzing vertebrate and mammalian genomes can provide insightful statistics about the commonplace genes and gene law.Mass spectrophotometry is a beneficial approach for reading the chemical systems of molecules and compounds. (popstaffnx.info)

We identified 14 significantly differentially methylated regions (DMRs) within genes associated with cumulative blast exposure in participants with high relative to low cumulative blast exposure. (frontiersin.org)
Additionally, we found that differentially methylated regions associated with the genes CCDC68 and COMT track with sleep difficulties, and those within FMOD and TNXB track with pain and headache. (frontiersin.org)

In line with the X-connected inheritance design seen in these households, we determined disease-relevant Tubastatin A HCl price variants in three genes, which includes p21 (RAC1)-activated kinase 3 (or or reveal sequenced samples. (bioskinrevive.com)
The protein kinase gene family is the most frequently mutated in human cancer. (ox.ac.uk)
Our results do not provide evidence for a mutated protein kinase implicated in the development of TGCT other than KIT. (ox.ac.uk)
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)

Hobson, G., Stabley, D., Funanage, V., and Marks, H. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease. (centerforpediatricresearch.org)

BEND2 is a protein that in humans is encoded by the BEND2 gene. (wikipedia.org)
Potential gene candidates identified by clinicians can be studied in model organisms and used to identify orthologues in humans that may play a role in the disease. (gracescience.org)
The main reason model organisms are so helpful in studying human disease is because a vast number of genes, biological processes and pathways are evolutionarily conserved between species, from the single-celled yeast to humans. (gracescience.org)
This conservation of function between genes in model organisms and humans means information gleaned from species such as yeast, worms, flies, zebrafish and mice could be directly applicable to human biology. (gracescience.org)
However, because Drosophila is an invertebrate, not all of its genes are relevant to humans (vertebrates). (gracescience.org)

12- 17 However, there is still further allelic heterogeneity within this region as there are additional XLMR families published that map to Xq28 with a significant lod score but do not have abnormalities in any of these genes. (bmj.com)

This patient therefore provides further evidence for the instability of this genomic region. (bmj.com)

HE4 is one of more than 8900 different human genes represented on U95a GeneChips (Affymetrix, Santa Clara, CA, USA), which we used previously to develop a molecular classification of 175 human carcinomas based on patterns of gene expression. (nature.com)

Several downstream targets of the NF-kB pathway were also down-regulated, and apoptosis-associated genes CASP3 and PARP were activated. (oncotarget.com)
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)
Genomic profiling in pancreatic ductal adenocarcinoma and a pathway towards therapy individualization: A scoping review. (cdc.gov)

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)
Classification of the deleted genes according to their biological functions supports the hypothesis that M. ulcerans has recently evolved from the generalist environmental M. marinum to become a niche-adapted specialist. (cdc.gov)
Cyanines are used in a wide variety of biological applications including comparative genomic hybridization and in gene chips. (aatbio.com)

A test target is what the test interrogates ( e. g. the analyte, chromosomal region/mitochondrion, gene or protein). (nih.gov)
Genomic DNA copy number variation is a hallmark of cancer and can lead to alteration in the expression and functions of genes residing within the affected chromosomal region [ 5 ]. (biomedcentral.com)

Consistent with the hypothesis that either ribosomal protein can support translation, knockdown of Rpl22l1 impairs growth of cells lacking Rpl22 . (prolekarniky.cz)

Overview of Genetics A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein) or a functional RNA molecule. (msdmanuals.com)

Our data have provided evidence for a comparable prediction of clinical outcome in CMF-treated breast cancer patients using conventional clinical variables and gene expression based markers. (lu.se)
Clinical assessment and identification of immuno-oncology markers concerning the 19-gene based risk classifier in stage IV colorectal cancer. (cdc.gov)

We determined potential causal variants in three XLID genes, which includes (V294M), (complicated structural variant), and (P354T). (bioskinrevive.com)
Exome sequencing will not reveal genomic variants that take place beyond your protein-coding regions like the gene regulatory areas. (bioskinrevive.com)
Genes with causal variants determined in each family members are proven in the pedigree chart. (bioskinrevive.com)
We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. (springer.com)
Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. (springer.com)
Variants for which protein modelling is available, are marked in bold. (springer.com)
ClinVar variants which are reported in the ClinVar database and could be investigated for pathogeneity with protein modelling (see supplementary Table S6). (springer.com)
Loss of function-variants in cohesin genes including RAD21 were found in individuals with holoprosencephaly of whom some demonstrated CdLS features as well (Kruszka et al. (springer.com)
Once such gene variants have been uncovered, the new challenge researchers face is figuring out how the gene functions in the body and how the genetic variation actually impacts this. (gracescience.org)

Comparative genomic hybridization: assess the entire genome for the presence of changes in DNA copy number. (semimd.com)
Which genes to assess in the NGS diagnostics of intellectual disability? (cdc.gov)

Comparative Genomic Hybridization, or CGH, is a useful cytogenetic diagnostic tool when a diagnosis is unknown. (psychesystems.com)

After exclusion of a chromosomal abnormality by array-comparative genomic hybridization (CGH), we performed next-generation sequencing (NGS) using a customized panel that targeted 131 genes known or hypothesized to cause ciliopathies. (nih.gov)
hybridization, or array-structured comparative genomic hybridization. (bioskinrevive.com)
Array-comparative genomic hybridization (array-CGH) was analyzed for DNA copy number profile in 40 Asian and 20 Caucasian lung cancer patients. (biomedcentral.com)
The resolution of array-CGH is determined by the genomic spacing of the array elements thus is much more improved compared to previous conventional CGH [ 10 - 12 ]. (biomedcentral.com)
Array comparative genomic hybridization (CGH) was performed following the standard protocol provided by Agilent Technologies (Agilent Technologies, Santa Clara, CA, United States). (hindawi.com)
Array comparative genomic hybridization (aCHG) showing the extent of duplication in a male patient. (centerforpediatricresearch.org)

Although the mutations alter the structure of the MED12 protein, it is unclear how they lead to intellectual disability, behavioral changes, and the physical features associated with this condition. (medlineplus.gov)

The untranslated regions (UTR) flanking the coding sequence of BEND2 at the 5' and 3' end of the mature mRNA molecule contain sites for RNA-binding proteins, including RBMX, pum2, and EIF4B as well as microRNA binding sites. (wikipedia.org)

One of the hallmarks of the emergence of M. ulcerans as a more severe pathogen is the acquisition of a 174-kb plasmid that bears a cluster of genes necessary for the synthesis of the polyketide toxin mycolactone. (cdc.gov)

We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. (biomedcentral.com)

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)

Protein synthesis is a major energy consuming process involving intricate coordination of translation machinery in response to nutrient availability and stress sensing signals, as well as hormonal and growth factor cues in multi-cellular organisms. (prolekarniky.cz)
this is aimed at information and mapping the genetic code and know-how the interplay of genes, mRNA and proteins, and the surroundings in causing illnesses.a few years in advance, the technologies of genomics covered DNA cloning, protein shape evaluation, DNA sequencing, DNA synthesis, polymerase chain response to enlarge DNA and transgenic animals. (popstaffnx.info)
Protein synthesis, folding. (msdmanuals.com)

Genome-screening methodologies, such as conventional cytogenetics and comparative genomic hybridization (CGH), have been applied in order to identify these changes. (biomedcentral.com)

Genotype and genomic findings were cross-tabulated and compared with available clinical and follow-up data. (biomedcentral.com)

Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies. (cdc.gov)

The loci for these genes are spread throughout the human genome. (wikipedia.org)

The Ribosomal Protein Rpl22 Controls Ribosome. (prolekarniky.cz)
In yeast, ribosomal protein genes are generally duplicated and evidence has emerged that paralogs might have specific roles. (prolekarniky.cz)
We propose that ribosome specificity may exist in mammals, providing evidence that one ribosomal protein can influence composition of the ribosome by regulating its own paralog. (prolekarniky.cz)
In addition, interventions leading to reduced translation, such as dietary restriction and reduced 60S ribosomal protein expression, elicits lifespan extension in yeast, worms and files [10] - [13] . (prolekarniky.cz)

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels. (cdc.gov)

Although the field of OMICS is ever expanding (eg, see http://omics.org ), currently five different OMICS fields are well established: genotyping, gene expression profiling, epigenomics, proteomics, and metabolomics. (bmj.com)

Anatomy34

Organisms2

Diseases70

Chemicals and Drugs19

Analytical, Diagnostic and Therapeutic Techniques and Equipment47

Psychiatry and Psychology4

Phenomena and Processes119

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena1

Information Science9

Named Groups1

Health Care6

Fluorescence6

Microarray7

Tumors9

Copy Number Aberrations1

Tumor11

ACGH2

Chromosomes9

Fluorescent3

Chromosome13

Single Nucleotide P1

Chromatin3

Genome-wide3

Exons2

Oligonucleotide2

Microarrays4

Characterization3

Methods3

Alterations3

Deletions2

Mutation6

Analyses3

SNPs1

Mutations in genes1

Transcriptional1

Encodes4

CNVs2

Sensitivity2

Analysis12

Oncogenes1

Mammalian3

Differentially methylated2

Kinase4

Detection1

Humans5

Abnormalities1

Instability1

Human genes1

Pathway3

Biological3

Chromosomal region2

Consistent1

Genetics1

Markers2

Variants9

Assess2

Cytogenetic1

Array6

Intellectual disability1

Untranslated regions1

Plasmid1

Lung1

MRNA expression2

Synthesis3

Methodologies1

Genotype1

Immunohistochemistry1

Loci1

Ribosomal4

BRCA21

Expression Profiling1