mavii

In this study, we established a murine model to simulate clinical developmental disorders associated with the CTCF R567W mutation, revealing the indispensability of CTCF-R567 in normal development.

However, finding somatic variants in a cancer, including WT, does not necessarily mean that germline mutation in the same gene will lead to a cancer predisposition. We suggest that the connection between germline pathogenic variants in CTCF and WT warrants further study to elucidate the risks of WT or other malignancies. To date, no other ...

Introduction: CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF.The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants are being ...

CCCTC-binding factor CTCF is one of the most important chromatin organizers in vertebrates. It is crucial for orchestrating the three-dimensional chromatin structure by intra- and interchromosomal ...

This study presents, clinically and molecularly, an Emirati patient with de novo frameshift mutation in CTCF. This novel mutation was uncovered using whole exome sequencing and was confirmed by Sanger sequencing in the trio. ... Germline CTCF mutations are responsible for a specific phenotype in humans ; this phenotype is syndromic intellectual ...

Pathogenic variants in the transcription factor CCCTC-binding factor (CTCF) are associated with mental retardation, autosomal dominant 21 (MRD21, MIM#615502).Current studies supported the strong relationship between CTCF variants and growth, yet the mechanism of CTCF mutation leading to short stature is not known. Clinical information, treatment regimens, and follow-up outcomes of a patient ...

The study was approved by the ethics committee of the Medical Faculty, University of Erlangen-Nuremberg, and informed consent was obtained from parents or guardians of the affected individuals. ... To investigate whether heterozygous CTCF mutations might be associated with disorganized chromatin domains, ...

Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. ... Mutation Phenotype Grants and funding F32 ES031827/ES/NIEHS NIH HHS/United States R35 GM134744/GM/NIGMS NIH HHS/United States ...

The three-dimensional genome structure organized by CTCF is required for development. Clinically identified mutations in CTCF have been linked to adverse developmental outcomes. Nevertheless, the underlying mechanism remains elusive. In this investigation, we explored the regulatory roles of a clinically relevant R567W point mutation, located within the 11th zinc finger of CTCF, by introducing ...

CTCF plays a vital role in shaping chromatin structure and regulating gene expression. Clinical studies have associated CTCF mutations with congenital developmental abnormalities, including congenital cardiomyopathy. In this study, we investigated the impact of the homozygous CTCF-R567W (Ctcf R …

To study the impact of CTCF mutations, we established a rescue system, modifying the mESC degron cell line to express either a stable doxycycline-inducible control wild-type Ctcf or a mutant Ctcf (mCtcf) transgene in the absence of endogenous CTCF. 17 Transgenes, knocked into the Tigre locus, have a 3 x FLAG tag, which allows us to distinguish ...

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage ...

The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). ... Three additional de novo CTCF mutations in Chinese patients help to define an ...

The ZHX2-CTCF-HIF1α/HIF2α conjointly occupied peaks were primarily enriched in gene promoters (Figure S5I). Notwithstanding that 75% of HIF2α-binding sites were distant from promoters (Figure S5J), as a previous study has described, 34 only 9.2% of HIF2α promoter-distant binding sites were co-occupied by ZHX2 and CTCF (Figure S5K). These ...

Monoallelic 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 of the clinical spectrum of CRD is needed.

The missense codon mutations in CTCF zinc finger domain 3, observed in the present study may impact the CTCF binding to the promoters of genes related to cellular proliferation like MYC, PLK, PIM-1, p19ARF, and Igf2/H19 (Fig. 4) (Filippova et al., 2002).

Among 421 patients with early-stage previously untreated NSCLC who were enrolled in the TRACERx study, CHIP mutations were observed in 143 patients (34%) (Table 1 and Fig. S1), with a median VAF ...

Transposable elements (TEs) constitute over half of the human genome and have played a profound role in genome evolution. While most TEs have lost the ability to transpose, many retain functional ...

The impaired IGF1 expression due to CTCF mutation may explain the substandard effect of rhGH treatment on MRD21 patients. This study provided novel insights into the molecular basis of CTCF-associated disorder. ... Our study implicates that the CTCF variant by affecting IGF1 expression may be one of the reasons for short stature in patients ...