Ctcf disease
WebCTCFL (CTCF-like), the paralog of CTCF, is normally transiently expressed in pre-meiotic male germ cells together with ubiquitously expressed CTCF. It plays a unique role in … 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, …
Ctcf disease
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Webheart failure: Definition Heart failure is a condition in which the heart has lost the ability to pump enough blood to the body's tissues. With too little blood being delivered, the … Transcriptional 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
WebCTCF-related neurodevelopmental disorder Disease definition A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, … WebAug 22, 2024 · Remarkably, schizophrenia disease risk variants often overlap anchors of CTCF–CTCF loops present in induced pluripotent stem cells-derived neuronal cells …
WebMay 30, 2024 · CCCTC-binding factor (CTCF) is an architectural protein that can mediate both interchromosomal and intrachromosomal interactions. The functional outcomes of … 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 …
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 …
WebDec 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 clinical outcome remains unclear. DM1 congenital patients (CDM) inherit the largest expanded alleles, which are associated with abnormal and incr … how is fantasy score calculatedWebSep 17, 2024 · In response to extracellular and intracellular stressors, the nucleus and nuclear compartments undergo distinct molecular changes to maintain cell homeostasis. In the context of Alzheimer’s disease, misfolded proteins and various cellular stressors lead to profound structural and molecular changes at the nucleus. This review summarizes … highland grove elementaryWebApr 12, 2024 · These data collectively indicated that our catalog represents a high-quality map of STR variation for humans. In total, our analysis identified 366,013 pSTRs in the 6487 WGS samples, with 306,602 ... highland groveWebAug 23, 2024 · Although CTCF-knockout mouse embryos die at early implantation stages , CTCF haploinsufficient (Ctcf +/−) mice are markedly susceptible to cancer, and transformed foci are observed in Ctcf +/− mouse–derived MEFs . These reports strongly support our conclusion that the disturbance of CTCF function caused by pericentromeric satellite … highland grove elementary lakeland flWebMutations in CTCF binding sites at the Igf2/H19 locus have been identified in patients with Beckwith-Wiedemann syndrome, an overgrowth disorder predisposing patients to … how is farah khan related to farhan akhtarWebAug 22, 2024 · CCCTC-binding factor (CTCF) is an eleven zinc finger (ZF), multivalent transcriptional regulator, that recognizes numerous motifs thanks to the deployment of distinct combinations of its ZFs. ... We examine the literature implicating CTCF in controlling gene expression in development and disease both by acting as an insulator and a factor ... highland grove homeowners associationWebSep 9, 2024 · Mutations in CTCF-binding sites are associated with diseases [19, 66]. For instance, in frontotemporal lobar degeneration, which belongs to the group of … highland grove ontario