WebCTCF. 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. [5] [6] CTCF is involved in many cellular processes, … WebCCCTC-binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF gene had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay and microcephaly. So far, four patients have been reported with de novo CTCF mutations.
CTCF deletion syndrome: Clinical features and epigenetic delineation
WebA growing number of subjects with CTCF‐related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation of the clinical spectrum of CRD ... WebSep 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 … north berwick news agent
Gene: CTCF - SFARI Gene
WebThis striking association is also reflected on the higher incidence level of cancer-related somatic mutations occurring at CTCF/cohesin binding sites . A lower expression of CTCF, as well as of cohesin, caused by unknown mutations, was also found in childhood acute lymphoblastic leukemia (ALL). 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 ... 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 … how to replace trailer hubs