Associated Papers
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
Givol O et al.
Human Molecular Genetics, 2026
In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.
Roark CM et al.
Clinical and Experimental Immunology, 2025
Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.
Long Y et al.
Frontiers in Immunology, 2025
39958354 (PubMed )
Supplement: DataSheet2.pdf
Chromatin remodeling in replication-uncoupled maintenance DNA methylation and chromosome stability: Insights from ICF syndrome studies.
Unoki M
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021
Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation.
Aktar S et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2019
Structural basis of specific DNA binding by the transcription factor ZBTB24.
Ren R et al.
Nucleic Acids Research, 2019
A functional assay to classify ZBTB24 missense variants of unknown significance.
Wu H et al.
Human Mutation, 2019
Clinical and Immunological Characterization of ICF Syndrome in Japan.
Kamae C et al.
Journal of Clinical Immunology, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Nitta H et al.
Journal of Human Genetics, 2013
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