Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 229 publications

CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.

CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: December 10, 2025

Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.

Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.

Journal: Human molecular genetics
Published: June 25, 2025

Congenital diseases with defects in DNA methylation maintenance: focusing on ICF syndrome and multilocus imprinting disturbance.

Congenital diseases with defects in DNA methylation maintenance: focusing on ICF syndrome and multilocus imprinting disturbance.

Journal: Genes & genetic systems
Published: June 11, 2025

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country.

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country.

Journal: Oxford medical case reports
Published: January 25, 2025

Fatal CAEBV-Associated Vasculitis in ICF Syndrome Type 2.

Fatal CAEBV-Associated Vasculitis in ICF Syndrome Type 2.

Journal: Journal of investigational allergology & clinical immunology
Published: November 26, 2024

Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.

Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.

Journal: Frontiers in immunology
Published: October 26, 2024

The ZBTB24-CDCA7-HELLS axis suppresses the totipotent 2C-like reprogramming by maintaining Dux methylation and repression.

The ZBTB24-CDCA7-HELLS axis suppresses the totipotent 2C-like reprogramming by maintaining Dux methylation and repression.

Journal: Nucleic acids research
Published: October 08, 2024

In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.

In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.

Journal: Clinical and experimental immunology
Published: September 30, 2024

In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.

In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.

Journal: Clinical and experimental immunology
Published: September 30, 2024

CDCA7 is an evolutionarily conserved hemimethylated DNA sensor in eukaryotes.

CDCA7 is an evolutionarily conserved hemimethylated DNA sensor in eukaryotes.

Journal: Science advances
Published: August 23, 2024

The ICF syndrome protein CDCA7 harbors a unique DNA binding domain that recognizes a CpG dyad in the context of a non-B DNA.

The ICF syndrome protein CDCA7 harbors a unique DNA binding domain that recognizes a CpG dyad in the context of a non-B DNA.

Journal: Science advances
Published: August 23, 2024

Telomeres and immunodeficiencies.

Telomeres and immunodeficiencies.

Journal: Human immunology
Published: July 25, 2024
Showing 1-12 of 229

Last Updated: 01/07/2026