ProteinsGenomicTranslocateTumor developmentChromosomalMutationsSegmentsTranscriptionProteinOccurCellSequenceDevelopmentExpressionResultLossExtraTherapyPatientsDataAcute promyeloTranslocationAbnormalitiesCopiesGenetic materialSequencesMotifsMalignanciesReciprocalEpithelial cellsSegmentsRegulatoryDeletionBiologicalLeukemiasDuplicationCopyGenomeStructureCellsFusionFunctionPortionHealth
Proteins5
- Chromosome 15 likely contains 600 to 700 genes that provide instructions for making proteins. (medlineplus.gov)
- Upon cytokine activation receptor chain- bound STATs are then phosphorylated on the tyrosine residues, which results in dimerisation of STAT proteins that translocate to the nucleus and activate gene transcription. (openrheumatologyjournal.com)
- Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)
- In-frame fusions that produce chimeric proteins often drive cancer development and progression via dysregulation of signaling pathways related to the fusion genes. (biomedcentral.com)
- A substantial portion of the regulatory interactions in the higher eukaryotic cell are mediated by simple sequence motifs in the regulatory segments of genes and (pre-)mRNAs, and in the intrinsically disordered regions of proteins. (biomedcentral.com)
Genomic4
- This parent-specific gene activation results from a phenomenon called genomic imprinting. (medlineplus.gov)
- In cancer, genomic rearrangements can create fusion genes that either combine protein-coding sequences from two different partner genes or place one gene under the control of the promoter of another gene. (biomedcentral.com)
- Our pipeline uses discordant read pairs to identify supported fusion events and analyzes soft-clipped read alignments to determine genomic breakpoints. (biomedcentral.com)
- It can be used to identify high-quality gene fusions for further bioinformatic and experimental studies, including validation of genomic breakpoints and studies of the mechanisms that generate fusions. (biomedcentral.com)
Translocate1
- colorectal genes translocate about works for NAT. (evakoch.com)
Tumor development1
- These fusion genes can act as oncogenic drivers in tumor development and several fusions involving kinases have been successfully exploited as drug targets. (biomedcentral.com)
Chromosomal3
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 15. (medlineplus.gov)
- 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. (medlineplus.gov)
- Fusion genes are created when two separate genes are merged as a result of a chromosomal rearrangement. (biomedcentral.com)
Mutations1
- [ 3 ] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)
Segments1
- An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromosomes. (medlineplus.gov)
Transcription4
- This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. (cancerindex.org)
- The top 14 hub genes were subsequently confirmed by reverse transcription‑quantitative polymerase chain reaction in ACC and adrenocortical adenoma samples. (cancerindex.org)
- We observe that each gene and its products have a unique set of DNA, RNA or protein motifs that encode a regulatory program to define the logical circuitry that guides the life cycle of these biomolecules, from transcription to degradation. (biomedcentral.com)
- The life of a gene product, from transcription to degradation, is controlled by a series of regulatory decisions. (biomedcentral.com)
Protein3
- RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
- What does this gene/protein do? (cancerindex.org)
- Following this, the differentially expressed genes (DEGs) were included in Gene Ontology enrichment, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway, protein‑protein interaction network and survival analyses. (cancerindex.org)
Occur2
- Driver events in pediatric malignancies can occur through loss of function in tumor suppressor genes or gain of function in proto-oncogenes. (medscape.com)
- In cancer, gene fusions occur frequently due to the genetic instability of cancer cells. (biomedcentral.com)
Cell4
- We have tested it on matched RNA-Seq and WGS data for both tumors and cancer cell lines and show that it can be used to validate both new predicted gene fusions and experimentally validated fusion events. (biomedcentral.com)
- The identified DEGs included 20 downregulated genes and 51 upregulated genes, which were highly associated with the cell cycle, organelle fission, chromosome segregation, cell division and spindle stability. (cancerindex.org)
- 17 A crystal bond network and the identification of three PBCs Fig. The cell delineation algorithm is performed cell by cell until the encoding law has been confirmed consecutively 6 times. (dnbforexpriceaction.com)
- These human RNAs Do a removing download Ethos and see cities, overhangs, cells, ATPases operators, 7SL RNA, 7SK RNA, the RNA cell of RNase transfer RNA, the RNA number of RNase MRP, and the RNA molecule of conservation. (evakoch.com)
Sequence1
- Most people with a 15q13.3 microdeletion are missing a sequence of about 2 million DNA base pairs, also written as 2 megabases (Mb). (medlineplus.gov)
Development1
- In all cases of dup15q syndrome, the duplicated genetic material results in extra copies of certain genes involved in development. (medlineplus.gov)
Expression4
- This can lead to the formation of a chimeric gene that combines functional domains from both fusion partner genes, or to a promoter swapping event, where the promoter of one gene is replaced with another, leading to altered gene expression. (biomedcentral.com)
- Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
- Expression profiles analysis identifies the values of carcinogenesis and the prognostic prediction of three genes in adrenocortical carcinoma. (cancerindex.org)
- The analyzed gene datasets were downloaded from the Gene Expression Omnibus and The Cancer Genome Atlas (TCGA) database. (cancerindex.org)
Result1
- Duplication of a region of the long (q) arm of chromosome 15 can result in 15q11-q13 duplication syndrome (dup15q syndrome), a condition whose features can include weak muscle tone (hypotonia), intellectual disability, recurrent seizures (epilepsy), and characteristics of autism spectrum disorder affecting communication and social interaction. (medlineplus.gov)
Loss1
- It is unclear how a loss of these genes increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders in some individuals with a 15q13.3 microdeletion. (medlineplus.gov)
Extra2
- Dup15q syndrome is caused by the presence of at least one extra copy of a region of chromosome 15 called 15q11.2-q13.1. (medlineplus.gov)
- In these cases, cells have two copies of chromosome 15, one of which has an extra copy of the segment of genetic material, for a total of three copies of the duplicated segment. (medlineplus.gov)
Therapy3
- In a clinical setting, it could help find expressed gene fusions for personalized therapy. (biomedcentral.com)
- The cancer-specific nature of gene fusions has rendered them attractive targets for cancer therapy. (biomedcentral.com)
- If gene fusions are to be exploited for therapy, methods to accurately detect true events are imperative. (biomedcentral.com)
Patients1
- Furthermore, these three genes predicted overall survival and recurrence‑free survival in patients with ACC from the TCGA cohort. (cancerindex.org)
Data2
- We have developed a fast and very sensitive pipeline for validation of gene fusions detected by RNA-Seq in matched WGS data. (biomedcentral.com)
- Gene fusions are commonly detected in RNA sequencing (RNA-Seq) data in the form of chimeric fusion transcripts. (biomedcentral.com)
Acute promyelo7
- Acute promyelocytic leukemia (APL) is characterized by a series of retinoic acid receptor (RAR) fusion genes that lead to the dysregulation of RAR signaling and onset of APL. (nih.gov)
- 1. Comparative genomic analysis of PML and RARA breakpoints in paired diagnosis/relapse samples of patients with acute promyelocytic leukemia treated with all-trans retinoic acid and chemotherapy. (nih.gov)
- 2. No prognostic significance of normalized copy number of PML-RARA transcript at diagnosis in patients with acute promyelocytic leukemia. (nih.gov)
- 5. Additional chromosome abnormalities in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and chemotherapy. (nih.gov)
- 7. Isochromosome for derivative 17q in acute promyelocytic leukemia: evidence for two copies of PML-RARA and favorable response to all-trans-retinoic acid therapy. (nih.gov)
- 11. All-trans retinoic acid and arsenic trioxide resistance of acute promyelocytic leukemia with the variant STAT5B-RARA fusion gene. (nih.gov)
- A type of blood cancer known as acute promyelocytic leukemia is caused by a rearrangement (translocation) of genetic material between chromosomes 15 and 17. (medlineplus.gov)
Translocation2
- This translocation, written as t(15;17), fuses part of the PML gene from chromosome 15 with part of the RARA gene from chromosome 17. (medlineplus.gov)
- The two major two-chromosome mutations: insertion (1) and translocation (2). (wikipedia.org)
Abnormalities4
- Studies suggest that a loss of one copy of the HNF1B gene in each cell causes the kidney and urinary tract abnormalities, as well as diabetes. (medlineplus.gov)
- [1] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. (wikipedia.org)
- Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype , or full set of chromosomes, to a typical karyotype for the species via genetic testing . (wikipedia.org)
- Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body. (wikipedia.org)
Copies3
- Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
- This chromosome segment is prone to rearrangement during cell division, which can lead to extra or missing copies of DNA at 17q12. (medlineplus.gov)
- A karyotype of an individual with trisomy 21 , showing three copies of chromosome 21. (wikipedia.org)
Genetic material2
- A portion of the chromosome has been duplicated, resulting in extra genetic material. (wikipedia.org)
- A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (wikipedia.org)
Sequences2
- This chromosome segment is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (medlineplus.gov)
- Transcription factors, proteins that bind to the regulatory sequences of target genes, compose the largest class of oncogenes identified in pediatric tumors. (medscape.com)
Motifs2
- A substantial portion of the regulatory interactions in the higher eukaryotic cell are mediated by simple sequence motifs in the regulatory segments of genes and (pre-)mRNAs, and in the intrinsically disordered regions of proteins. (biomedcentral.com)
- We observe that each gene and its products have a unique set of DNA, RNA or protein motifs that encode a regulatory program to define the logical circuitry that guides the life cycle of these biomolecules, from transcription to degradation. (biomedcentral.com)
Malignancies2
- Driver events in pediatric malignancies can occur through loss of function in tumor suppressor genes or gain of function in proto-oncogenes. (medscape.com)
- Next, we summarize recent findings of SEs and SE-driven gene regulation in normal hematopoiesis and hematologic malignancies. (biomedcentral.com)
Reciprocal2
Epithelial cells1
Segments1
- Segments from two different chromosomes have been exchanged. (wikipedia.org)
Regulatory2
- The life of a gene product, from transcription to degradation, is controlled by a series of regulatory decisions. (biomedcentral.com)
- Enhancer is a class of regulatory DNA sequence that activates transcription of an associated gene from a distance of up to 1 Mbps (millions of base pairs) and independent of its orientation and location with respect to the transcription start sites (TSS) [ 1 ]. (biomedcentral.com)
Deletion6
- 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. (medlineplus.gov)
- Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), on the long (q) arm of the chromosome at a position designated q12. (medlineplus.gov)
- The segment that is most often deleted in people with 17q12 deletion syndrome includes 15 genes. (medlineplus.gov)
- The loss of other genes in the deleted region may also influence the signs and symptoms that can occur in 17q12 deletion syndrome. (medlineplus.gov)
- It is the same region of chromosome 17 that is deleted in people with 17q12 deletion syndrome (described above). (medlineplus.gov)
- The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). (wikipedia.org)
Biological1
- Used to support large-scale mapping and sequencing efforts related to the human genome project, FISH accuracy and versatility were subsequently capitalized on in biological and medical research, providing a wealth of diverse applications and FISH-based diagnostic assays. (biosyn.com)
Leukemias1
- In humans, it is expressed as a subset of CD34 (bright) human hematopoietic stem cells and CD34 positive leukemias. (nih.gov)
Duplication3
- It is the same region of chromosome 17 that is abnormally copied (duplicated) in people with a 17q12 duplication (described below). (medlineplus.gov)
- It is unclear which of these genes, when present in more than one copy, contribute to intellectual disability, delayed development, and other features that can be associated with a 17q12 duplication. (medlineplus.gov)
- Known human disorders include Charcot-Marie-Tooth disease type 1A , which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (wikipedia.org)
Copy2
- Most people with 17q12 duplications have an extra copy of about 1.4 Mb of DNA at position q12 on chromosome 17. (medlineplus.gov)
- Formed by the mirror image copy of a chromosome segment including the centromere. (wikipedia.org)
Genome2
- Point mutations represent the majority of known human genetic variants associated with disease but are difficult to correct cleanly and efficiently using standard genome-editing methods. (nih.gov)
- For his lecture, Dr. Liu will describe the development, application, and evolution of base editing, a novel approach to genome editing that directly converts a target base pair to another base pair in living cells without requiring DNA backbone cleavage or donor DNA templates. (nih.gov)
Structure1
- The introduction of FISH (fluorescence in situ hybridization) marked the beginning of a new era for the study of chromosome structure and function. (biosyn.com)
Cells1
- Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. (medlineplus.gov)
Fusion1
- PML-RARA is the most common fusion generated from t(15;17)(q24;q21). (nih.gov)
Function1
- 3] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)
Portion4
- A portion of the chromosome is missing or has been deleted. (wikipedia.org)
- A portion of one chromosome has been deleted from its normal place and inserted into another chromosome. (wikipedia.org)
- A portion of one chromosome has been transferred to another chromosome. (wikipedia.org)
- A portion of a chromosome has broken off and formed a circle or ring. (wikipedia.org)
Health1
- The main objective of the IPCS is to carry out and disseminate evaluations of the effects of chemicals on human health and the quality of the environment. (inchem.org)