Ctcf-related disorder
WebSep 18, 2024 · CTCF is an essential epigenetic component that plays a primary role in the organization of global chromatin architecture. To determine the role of CTCF in mammalian hair cells, we specifically deleted Ctcf in developing hair cells by crossing Ctcf fl/fl mice with Gfi1 Cre/+ mice. Gfi1 Cre; Ctcf fl/fl mice did not exhibit obvious developmental ... WebMonoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial …
Ctcf-related disorder
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WebCTCF-related neurodevelopmental disorder. A rare genetic neurodevelopmental disorder characterized by global developmental delay borderline to severe intellectual disability … WebNM_006565.4(CTCF):c.979T>C (p.Cys327Arg) Gene: CTCF:CCCTC-binding factor [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 16q22.1 ...
WebFeb 28, 2024 · CTCF and cohesin act as major architectural proteins, working in concert to generate thousands of high-intensity chromatin loops. ... Additional anomalies in diverse body systems are also recognized in these disorders, hinting at the role of CTCF looping in development more broadly. ... Related to this discrepancy, it is important to note the ... WebCTCF is a nuclear protein initially discovered for its role in enhancer-promoter insulation. It has been shown to play a role in genome architecture and in fact, its DNA binding sites are enriched at the borders of chromatin domains. Recently, we showed that depletion of CTCF impairs the DNA damage response to ionizing radiation. To investigate the relationship …
WebFeb 28, 2024 · Some families report cardiac defects, cleft palate or hearing loss, but these are not universal features of CTCF-related disorder. The group has developed a list of … WebJun 15, 2024 · The global regulatory role of CTCF in organizing chromatin structure explains the increasing number of studies that uncover its involvement in a wide range of human …
WebAbout one-half of those who have CTCF-related syndrome have a small head. Otherwise, people who have CTCF-related syndrome do not look very different. ... Geisinger Developmental Brain Disorder Gene Database – CTCF + GeneReviews. GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary …
WebFeb 22, 2024 · Gregor et al. (2013) reported 3 patients with an intellectual developmental disorder and mutation in the CTCF gene. Patient 1 was a 9.5-year-old boy with mild intellectual disability, short stature, microcephaly, cleft palate, and congenital heart defects. Patient 2 was a 9-year-old boy with borderline intelligence but developmental delay ... church\\u0027s lumberWebPurpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through … dfa reviewsWebIntroduction. Mutations in CTCF (CCCTC-binding factor; MIM 604167) were first reported by Gregor et al 1 in individuals with intellectual disability of varying severity, microcephaly … dfa revenue officeWebIn 3 boys with intellectual disability of varying severity, head circumference and/or body height either in the low normal range or below -2 standard deviations, and feeding difficulties (MRD21; 615502 ), Gregor et al. (2013) identified de novo mutations in the CTCF gene ( 604167.0001 - 604167.0003 ). df army\u0027sWebSep 9, 2024 · Patients with CTCF-related Disorder carrying mutations in ZF9, ZF10, or CF11 present with various neurodevelopmental and craniofacial phenotypes, suggesting an effect of these mutations in cell differentiation processes during development (Konrad et al., 2024). iPSCs from these patients, or hESCs carrying the same mutations, could be used … dfar firm fixed priceWebMutations in CTCF binding sites at the Igf2/H19 locus have been identified in patients with Beckwith-Wiedemann syndrome, an overgrowth disorder predisposing patients to … dfa richmond indianaWebMonoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A growing number of subjects with CTCF-related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation … d farinae high