DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

@article{Ehrlich2001DNAM3,
  title={DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.},
  author={M. Ehrlich and K. Buchanan and F. Tsien and G. Jiang and B. Sun and W. Uicker and C. Weemaes and D. Smeets and K. Sperling and B. Belohradsky and N. Tommerup and David E. Misek and J. Rouillard and R. Kuick and S. Hanash},
  journal={Human molecular genetics},
  year={2001},
  volume={10 25},
  pages={
          2917-31
        }
}
ICF (immunodeficiency, centromeric region instability and facial anomalies) is a recessive disease caused by mutations in the DNA methyltransferase 3B gene (DNMT3B). Patients have immunodeficiency, chromosome 1 (Chr1) and Chr16 pericentromeric anomalies in mitogen-stimulated lymphocytes, a small decrease in overall genomic 5-methylcytosine levels and much hypomethylation of Chr1 and Chr16 juxtacentromeric heterochromatin. Microarray expression analysis was done on B-cell lymphoblastoid cell… Expand
121 Citations
The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.
  • M. Ehrlich
  • Biology, Medicine
  • Clinical immunology
  • 2003
  • 187
ICF, An Immunodeficiency Syndrome: DNA Methyltransferase 3B Involvement, Chromosome Anomalies, and Gene Dysregulation
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DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.
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Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.
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Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology
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Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome
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References

SHOWING 1-10 OF 63 REFERENCES
Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.
  • 170
  • PDF
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
  • 1,117
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
  • 698
  • PDF
DNA hypomethylation and unusual chromosome instability in cell lines fromICF syndrome patients
  • 232
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.
  • 146
  • PDF
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.
  • 270
Genetic variation in ICF syndrome: Evidence for genetic heterogeneity
  • 82
The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed.
  • 167
  • Highly Influential
Loss of genomic methylation causes p53-dependent apoptosis and epigenetic deregulation
  • 677
  • PDF
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