Epigenetic alterations of a DNMT3B-mutant ICF patient at base-pair resolution

ChEBI2012-04-25 更新2026-07-21 收录

ICF综合征表观遗传学

DNMT3B突变分析

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-37578 数据链接链接失效反馈

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Epigenetic alterations of a DNMT3B-mutant ICF patient at base-pair resolution

创建时间：

2012-04-25

Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction.

ICF综合征表观遗传学

疾病建模

DNA methyltransferase 3B (DNMT3B) is the major DNMT that methylates mammalian genomes during early development. Mutations in human DNMT3B disrupt genome-wide DNA methylation patterns and result in ICF

NIAID Data Ecosystem100

Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome. Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome

ICF综合征表观遗传学

干扰素反应

This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series

NIAID Data Ecosystem30

Histone ChIP-seq from GM08714 (ENCSR000FCL)

组蛋白修饰ChIP-seq

ICF综合征表观遗传学

H3K4me3 GM08714 (ICF) ChIP-Seq For data usage terms and conditions, please refer to http://www.genome.gov/27528022 and http://www.genome.gov/Pages/Research/ENCODE/ENCODE_Data_Use_Policy_for_External_

NIAID Data Ecosystem30

Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome

ICF综合征表观遗传学

甲基化DNA生物标志物

Introduction and Results Immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) is a rare autosomal recessive disease, characterized by severe hypomethylation in pericentromeric

NIAID Data Ecosystem30

Epigenetic alterations of a DNMT3B-mutant ICF patient at base-pair resolution. Homo sapiens

ICF综合征表观遗传学

甲基化测序

The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated with mutation of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant

NIAID Data Ecosystem30

Epigenetic alterations of a DNMT3B-mutant ICF patient at base-pair resolution

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