Associated Papers
CTCF Point Mutation at R567 Disrupts Mouse Heart Development via 3D Genome Rearrangement and Transcription Dysregulation.
Ren H et al.
Cell Proliferation, 2025
CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment.
Zhang J et al.
Nature Communications, 2024
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karimi K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H et al.
European Journal of Pediatrics, 2024
On the dependent recognition of some long zinc finger proteins.
Zuo Z et al.
Nucleic Acids Research, 2023
CTCF variant begets to short stature by down-regulation of IGF1.
Chen H et al.
Journal of Molecular Endocrinology, 2023
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
Valverde de Morales HG et al.
American Journal of Medical Genetics. Part A, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.
Price E et al.
Frontiers in Molecular Neuroscience, 2023
Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants.
Tan B et al.
Frontiers in Pediatrics, 2023
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 2022
The role of exome sequencing in childhood interstitial or diffuse lung disease.
Temple SEL et al.
Orphanet Journal of Rare Diseases, 2022
Structure-function relationships explain CTCF zinc finger mutation phenotypes in cancer.
Bailey CG et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
[Autosomal dominant intellectual disability type 21 in a neonate].
Chen L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.
Chen F et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.
Bastaki F et al.
Bmc Medical Genetics, 2017
De novo mutations in the genome organizer CTCF cause intellectual disability.
Gregor A et al.
American Journal of Human Genetics, 2013