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■ Abbreviation / Long Form : ICF / instability, facial anomalies

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Total Number of Papers: 17
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Abbreviation:   ICF  (>> Co-occurring Abbreviation)
Long Form:   instability, facial anomalies
 Abbreviation Variation
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No. Year Title Co-occurring Abbreviation
2019 A functional assay to classify ZBTB24 missense variants of unknown significance. VUSs
2019 Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation. ZF
2018 Repetitive Fragile Sites: Centromere Satellite DNA As a Source of Genome Instability in Human Diseases. ---
2016 Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals. ---
2012 DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations. DNMT3B
2012 Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst. ---
2011 Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome. ---
2011 Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. DNMT3B
2011 Replication timing-related and gene body-specific methylation of active human genes. DNMT3B
10  2010 Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome. miRNAs
11  2008 DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. DNMT3B, DNMTs
12  2007 Chromosome territory reorganization in a human disease with altered DNA methylation. CT, PAR, Xa, Xi
13  2006 Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity. ATM, LCLs
14  2005 Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells. ---
15  2004 Chromatin targeting of de novo DNA methyltransferases by the PWWP domain. ---
16  2002 DNA hypomethylation, cancer, the immunodeficiency, centromeric region instability, facial anomalies syndrome and chromosomal rearrangements. ---
17  2001 The ICF syndrome: new case and update. ---