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Last Updated: 10/31/2025

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Found 227 publications

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

ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.

ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.

Journal: Human molecular genetics
Published: June 24, 2024

Corrigendum: Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity.

Corrigendum: Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity.

Journal: Frontiers in immunology
Published: June 08, 2024
Showing 1-12 of 227

Last Updated: 10/31/2025