Ctcf disease
WebApr 23, 2024 · CTCF binding sites are mutation hotspots in cancer, while mutations in CTCF itself lead to intellectual disabilities, emphasizing its importance in disease etiology. In this review we cover various aspects of CTCF function, revealing the polyvalence of this factor as a highly diversified tool for vertebrate genome organization and transcription ... WebBecause the CTCF gene is important in the development and function of brain cells, many people who have CTCF-related syndrome have: Developmental delay Intellectual …
Ctcf disease
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WebJun 26, 2024 · Previous studies have pointed to haploinsufficiency of CTCF as the main disease-causing mechanism. 7,8,10 An earlier hypothesis … WebNational Center for Biotechnology Information
WebAug 22, 2024 · Remarkably, schizophrenia disease risk variants often overlap anchors of CTCF–CTCF loops present in induced pluripotent stem cells-derived neuronal cells … WebDec 17, 2015 · Furthermore, we show that haplotype variants and allelic interactions have differential effects on chromosome configuration, influencing gene expression, and may provide mechanistic insights into functions associated with disease susceptibility. 3D genome simulation suggests a model of chromatin folding around chromosomal axes, …
WebDescription: Homo sapiens CCCTC-binding factor (CTCF), transcript variant 2, mRNA. (from RefSeq NM_001191022) RefSeq Summary (NM_001191022): This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different … WebApr 10, 2024 · How changes in spatial chromatin organization are integrated into the network of molecular mechanisms mediating CD8+ T cell effector functions and memory formation is not well understood. Quon et al. characterize genome interactions accompanying the CD8+ T cell response to infection and find that the DNA architectural …
WebApr 5, 2024 · CTCF mediates chromatin insulation and long-distance enhancer-promoter (EP) interactions; however, little is known about how these regulatory functions are partitioned among target genes in key biological processes. ... State Key Laboratory of Respiratory Disease, Guangzhou Institutes of Biomedicine and Health, Chinese …
WebJul 8, 2024 · CTCF is known as a master chromatin regulator 41,42, and we observed that the CTCF motif variability trajectory was anti-correlated with the DAA and GFAP-high signatures (end of the trajectory ... irs check federal returnWebJan 1, 2024 · Results. Liver-specific, CTCF-deficient mice developed hepatic steatosis and inflammation when fed a standard chow diet. Global analysis of the transcriptome and enhancer landscape revealed that CTCF-depleted liver showed enhanced accumulation of PPARγ in the nucleus, which leads to increased expression of its downstream target … portable sauna twin citiesWebDec 27, 2024 · Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between mutant CTG repeat expansion size and … irs check fed refundTranscriptional repressor CTCF also known as 11-zinc finger protein or CCCTC-binding factor is a transcription factor that in humans is encoded by the CTCF gene. CTCF is involved in many cellular processes, including transcriptional regulation, insulator activity, V(D)J recombination and regulation of … See more CCCTC-Binding factor or CTCF was initially discovered as a negative regulator of the chicken c-myc gene. This protein was found to be binding to three regularly spaced repeats of the core sequence CCCTC and thus … See more The primary role of CTCF is thought to be in regulating the 3D structure of chromatin. CTCF binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures like the nuclear lamina. It also defines the boundaries between active and … See more CTCF binds to itself to form homodimers. CTCF has also been shown to interact with Y box binding protein 1. CTCF also co-localizes with cohesin, which extrudes chromatin loops by … See more • CCCTC-binding+factor at the U.S. National Library of Medicine Medical Subject Headings (MeSH) • FactorBook CTCF See more The binding of CTCF has been shown to have many effects, which are enumerated below. In each case, it is unknown if CTCF directly evokes the outcome or if it does so indirectly (in … See more CTCF binds to the consensus sequence CCGCGNGGNGGCAG (in IUPAC notation). This sequence is defined by 11 zinc finger motifs in its structure. CTCF's binding is disrupted by See more • Ohlsson R, Renkawitz R, Lobanenkov V (2001). "CTCF is a uniquely versatile transcription regulator linked to epigenetics and … See more portable satellite radio boomboxWebCTCF-related neurodevelopmental disorder Disease definition A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. irs check filingWebApr 16, 2024 · With WGS becoming more commonly used in the clinic, it would be interesting to analyze disease-associated variants, in particular short indels, for their overlap with CTCF motifs and chromatin ... irs check federal refund statusWebNov 14, 2008 · CTCF is an important regulatory factor that controls the expression of genes. As binding sites for CTCF are associated with many repeat sequences, CTCF may play … irs check filing status