• Publications
  • Influence
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
TLDR
It is shown that five unrelated ICF patients have mutations in both alleles of the gene that encodes DNA methyltransferase 3B (refs 5, 6), which is the only genetic disorder known to involve constitutive abnormalities of genomic methylation patterns. Expand
LAG-3, a novel lymphocyte activation gene closely related to CD4
TLDR
The compared analysis of LAG-3 and CD4, with respect to both their peptidic sequence as well as their exon/intron organization, indicated that the two molecules are closely related. Expand
The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
TLDR
The mosaic distribution of epimutations suggests that imprinting is lost after fertilisation owing to a failure to maintain methylation marks during pre-implantation development. Expand
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
TLDR
A mutation in the nuclear–encoded flavoprotein (Fp) subunit gene of the succinate dehydrogenase (SDH) is reported in two siblings with complex II deficiency presenting as Leigh syndrome, the first report of a nuclear gene mutation causing a mitochondrial respiratory chain deficiency in humans. Expand
Delayed and incomplete reprogramming of chromosome methylation patterns in bovine cloned embryos
TLDR
It is proposed that the abnormal time-dependent methylation events spanning the preimplantation development of clones may significantly interfere with the epigenetic reprogramming, contributing to the high incidence of physiological anomalies occurring later during pregnancy or after clone birth. Expand
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.
TLDR
The methylation deficiency affects classical satellite families built from distinct unit sequences but located in the same chromosomal region, which may have important implications for the mechanism of chromosomal rearrangements. Expand
Chromosome methylation patterns during mammalian preimplantation development.
TLDR
The results indicate that chromosome demethylation is associated with each DNA replication and suggest that a passive mechanism predominates during early development. Expand
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions.
TLDR
It is shown that, in addition to several satellite and non-satellite repeats, the subtelomeric regions in lymphoblastoid and fibroblast cells of ICF patients are also hypomethylated to similar levels as in sperm. Expand
Regulation of DNA methylation activity through Dnmt3L promoter methylation by Dnmt3 enzymes in embryonic development.
TLDR
It is found here that the expression of Dnmt3L is controlled via its promoter methylation during embryonic development via an auto-regulatory mechanism for the control of DNA methylation activity whereby the activity of the DnMT3L promoter is epigenetically modulated by the methylation machinery including Dn mt3L itself. Expand
A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes.
TLDR
Results of hybridization of small cDNA probes for the human genes for motilin, thymidylate synthetase, and lymphocyte activation-3 are provided as examples of the high-resolution mapping obtainable with this technique. Expand
...
1
2
3
4
5
...