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DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.
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,Expand
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DNA hypomethylation in cancer cells.
  • M. Ehrlich
  • Biology, Medicine
  • Epigenomics
  • 3 December 2009
DNA hypomethylation was the initial epigenetic abnormality recognized in human tumors. However, for several decades after its independent discovery by two laboratories in 1983, it was often ignoredExpand
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DNA hypomethylation and unusual chromosome instability in cell lines fromICF syndrome patients
The ICF syndrome (i̲mmunodeficiency, c̲entromeric region instability, f̲acial anomalies) is a unique DNA methylation deficiency disease diagnosed by an extraordinary collection of chromosomalExpand
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Expression of various genes is controlled by DNA methylation during mammalian development
  • M. Ehrlich
  • Biology, Medicine
  • Journal of cellular biochemistry
  • 1 April 2003
Despite thousands of articles about 5‐methylcytosine (m5C) residues in vertebrate DNA, there is still controversy concerning the role of genomic m5C in normal vertebrate development. InverseExpand
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Satellite DNA hypomethylation vs. overall genomic hypomethylation in ovarian epithelial tumors of different malignant potential.
Rearrangements in heterochromatin in the vicinity of the centromeres of chromosomes 1 and 16 are frequent in many types of cancer, including ovarian epithelial carcinomas. Satellite 2 DNA is the mainExpand
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The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.
  • M. Ehrlich
  • Biology, Medicine
  • Clinical immunology
  • 1 October 2003
Only one human disease that involves Mendelian inheritance of immunodeficiency and aberrant DNA methylation has been identified. This is a rare chromosome breakage disease called theExpand
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Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.
The ICF (immunodeficiency, centromeric instability and facial abnormalities) syndrome is a rare recessive disease characterized by immunodeficiency, extraordinary instability of certainExpand
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DNA hypomethylation, cancer, the immunodeficiency, centromeric region instability, facial anomalies syndrome and chromosomal rearrangements.
  • M. Ehrlich
  • Biology, Medicine
  • The Journal of nutrition
  • 1 August 2002
Inadequate attention has been paid to the frequent and often extensive cancer-associated DNA hypomethylation. This hypomethylation usually includes undermethylation of certain DNA repeats inExpand
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DNA hypomethylation and hemimethylation in cancer.
In contrast to earlier views that there was much compartmentalization of the types of sequences subject to cancer-linked changes in DNA epigenetics, it is now clear that both cancer-associated DNAExpand
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Gene expression during normal and FSHD myogenesis
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35. Within each repeat unit is a gene, DUX4, thatExpand
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