• In a whole-genome sequencing in 17 Esophageal Squamous Cell Carcinoma cases and whole-exome sequencing in 71 cases, Song (2014), reported ASH1L alterations. (cancerindex.org)
  • This is partially due to the ability to analyze cancer genomes on a whole genome basis. (medscape.com)
  • We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. (bvsalud.org)
  • The demonstration of human achaete-scute homologue ( HASH1 ) gene expression, although still investigational, could become the diagnostic procedure of choice. (medscape.com)
  • The vertebrate head is a complex tapestry of morphological features woven together during embryonic development from a varied array of specialized cell types. (frontiersin.org)
  • We have studied Platynereis orthologs of the most important vertebrate neural bHLH genes, i.e. achaete-scute, neurogenin, atonal, olig , and NeuroD genes, the latter two being genes absent of the Drosophila genome. (biomedcentral.com)
  • The number of transcription factors found within an organism increases with genome size, and larger genomes tend to have more transcription factors per gene. (wikipedia.org)
  • Hence, the combinatorial use of a subset of the approximately 2000 human transcription factors easily accounts for the unique regulation of each gene in the human genome during development. (wikipedia.org)
  • The preinitiation complex binds to promoter regions of DNA upstream to the gene that they regulate. (wikipedia.org)
  • Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. (nih.gov)
  • Our data suggest that in Platynereis , like in vertebrates but unlike Drosophila , (i) neurogenin is the main proneural gene for the formation of the trunk central nervous system, (ii) achaete-scute and olig genes are involved in neural subtype specification in the central nervous system, in particular in the specification of the serotonergic phenotype. (biomedcentral.com)
  • TFs work alone or with other proteins in a complex, by promoting (as an activator), or blocking (as a repressor) the recruitment of RNA polymerase (the enzyme that performs the transcription of genetic information from DNA to RNA) to specific genes. (wikipedia.org)
  • Therefore, approximately 10% of genes in the genome code for transcription factors, which makes this family the single largest family of human proteins. (wikipedia.org)
  • Transcription factors bind to either enhancer or promoter regions of DNA adjacent to the genes that they regulate. (wikipedia.org)
  • Other transcription factors differentially regulate the expression of various genes by binding to enhancer regions of DNA adjacent to regulated genes. (wikipedia.org)
  • Genetic and molecular studies mainly conducted in Drosophila and vertebrates have shown that genes encoding transcription factors of the basic Helix-Loop-Helix (bHLH) class play pivotal roles in various steps of neurogenesis, including commitment of neural precursors (proneural function), specification of particular neuronal identities, and neuronal differentiation [ 1 - 5 ]. (biomedcentral.com)
  • HIF target genes are involved in a complex regulatory network, e.g. adjusting energy metabolism to available oxygen levels, regulation of pH, inhibiting apoptosis, and activation of angiogenesis. (charite.de)
  • RESULTS: Six risk genes for SCZ (LINC01795, DDHD2, SBNO1, KCNG2, SEMA7A, and RUFY1) involved in cortical morphology were identified as having a genetic-epigenetic interaction associated with treatment response. (inra.fr)
  • To identify upstream regulators or downstream effectors of CDK8, a dominant modifier genetic screen was performed in Drosophila based on the defects in vein patterning caused by specific depletion or overexpression of CDK8 or CycC in developing wing imaginal discs. (sdbonline.org)
  • There are approximately 2800 proteins in the human genome that contain DNA-binding domains, and 1600 of these are presumed to function as transcription factors, though other studies indicate it to be a smaller number. (wikipedia.org)
  • Región reguladora que fue identificada por primera vez en el locus de la globina beta humana pero que se halló posteriormente en otros loci. (bvsalud.org)
  • A regulatory region first identified in the human beta-globin locus but subsequently found in other loci. (bvsalud.org)
  • We found that increases in sample size and genetic diversity improved locus identification and fine-mapping resolution, and that a large majority of the 3,823 associated variants (from 2,143 loci) showed consistent effect sizes across ancestry dimensions. (bvsalud.org)
  • Integrated Analysis of Genetic Abnormalities of the Histone Lysine Methyltransferases in Prostate Cancer. (cancerindex.org)
  • In addition to these basic issues concerning leukemia pathogenesis, we are devising new diagnostic procedures for detecting and monitoring leukemia patients based on molecular genetic abnormalities in the malignant cells. (stanford.edu)
  • During embryogenesis Drosophila constructs a complex pattern of larval muscles beneath the newly forming epidermis. (biologists.com)
  • Further analysis of two overlapping deficiency lines and mutant alleles led to identification of genetic interactions between the CDK8-CycC pair and the components of the Decapentaplegic (Dpp, the Drosophila homolog of TGFβ, or Transforming Growth Factor-β) signaling pathway. (sdbonline.org)
  • These results suggest that CDK8 and CycC, together with a few other subunits of the MED complex, may coordinate with other transcription cofactors in regulating Mad-dependent transcription during wing development in Drosophila. (sdbonline.org)
  • Genetic Loci" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. (childrensmercy.org)
  • Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE. (childrensmercy.org)
  • This graph shows the total number of publications written about "Genetic Loci" by people in this website by year, and whether "Genetic Loci" was a major or minor topic of these publications. (childrensmercy.org)
  • Below are the most recent publications written about "Genetic Loci" by people in Profiles. (childrensmercy.org)
  • Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. (bvsalud.org)
  • To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. (bvsalud.org)
  • The study also examined the genetic-epigenetic interactions with treatment response through differential methylation analysis, methylation quantitative trait loci, colocalization, and promoter-anchored chromatin interaction. (inra.fr)
  • The vast majority of embryonal tumors like neuroblastoma arise from aberrant genetic and epigenetic changes that control the survival, proliferation and differentiation of specific tissues. (prolekarniky.cz)
  • Previous studies have indicated the association between treatment response and genetic and epigenetic factors, but no effective biomarkers have been identified. (inra.fr)
  • Additionally, healthy controls (n = 275) from the local community were utilized as a genetic/epigenetic reference. (inra.fr)
  • The genetic and epigenetic (DNA methylation) risks of SCZ were assessed using the polygenic risk score (PRS) and polymethylation score, respectively. (inra.fr)
  • There are 1500-1600 TFs in the human genome. (wikipedia.org)
  • Dysregulation of CDK8 (Cyclin-Dependent Kinase 8) and its regulatory partner CycC (Cyclin C) , two subunits of the conserved Mediator (MED) complex, have been linked to diverse human diseases such as cancer. (sdbonline.org)
  • The region is believed to regulate GENETIC TRANSCRIPTION by opening and remodeling CHROMATIN structure. (bvsalud.org)
  • In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. (wikipedia.org)
  • Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. (childrensmercy.org)
  • A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. (nih.gov)
  • This fact, and the accessibility of Xenopus to genetic manipulation, makes this animal an excellent model system with which to study kidney development. (silverchair.com)
  • In contrast with this model, this study shows that genetic ablation of the PSC does not cause an increase in blood cell differentiation or a loss of blood cell progenitors. (sdbonline.org)
  • Later, during nephron segmentation, expression becomes restricted to the intermediate tubule region of the proximal-distal axis. (silverchair.com)
  • Next, we ran stratified genome-wide association analysis in ever smokers, never smokers, individuals with diabetes, and individuals with no history of diabetes and corresponding interaction analyses, to identify variants that modify the risk of PAD by diabetic or smoking status. (bvsalud.org)
  • These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries5. (bvsalud.org)
  • Due to the rare and complex nature of ENB, multiple opinions exist regarding the etiology, optimal staging system, and treatment modalities. (medscape.com)
  • METHODS: We identified genetic variants associated with PAD and then meta-analyzed with published summary statistics from the Million Veterans Program and UK Biobank to replicate their findings. (bvsalud.org)
  • Neurogenesis is a complex process that involves the formation of a vast array of neuronal and glial cell types that must be produced in the correct numbers and at appropriate positions. (biomedcentral.com)
  • Many of these GTFs do not actually bind DNA, but rather are part of the large transcription preinitiation complex that interacts with RNA polymerase directly. (wikipedia.org)
  • CDK8 can directly interact with Mad in vitro through the linker region between the DNA-binding MH1 (Mad homology 1) domain and the carboxy terminal MH2 (Mad homology 2) transactivation domain. (sdbonline.org)