Genetics and epigenetics of repeat derepression in human disease

Peter Thijssen| 01-09-2016 | Genetics and epigenetics of repeat derepression in human disease A large part of the human genome consists of repetitive DNA. In this thesis two human diseases have been studied in which deregulation of repetitive DNA is a central feature: facioscapulohumeral muscular dystrophy (FSHD) and immunodeficiency, centromere instability and facial anomalies [...]

Door |2021-07-05T12:14:55+00:00juli 5th, 2021|Papers epigenetica|0 Reacties

Persistent epigenetic differences associated with prenatal exposure to famine in humans

Proc Natl Acad Sci USA | November 2009 Abstract Extensive epidemiologic studies have suggested that adult disease risk is associated with adverse environmental conditions early in development. Although the mechanisms behind these relationships are unclear, an involvement of epigenetic dysregulation has been hypothesized. Here we show that individuals who were prenatally exposed to [...]

Door |2021-06-24T10:22:37+00:00juni 24th, 2021|Papers epigenetica|0 Reacties

Identification and systematic annotation of tissue-specific differentially methylated regions using the Illumina 450k array

Epigenetics & Chromatin | Volume 6 | article numebr 26 | 06 August 2013 Abstract DNA methylation has been recognized as a key mechanism in cell differentiation. Various studies have compared tissues to characterize epigenetically regulated genomic regions, but due to differences in study design and focus there still is no consensus as [...]

Door |2021-06-24T10:23:01+00:00juni 24th, 2021|Papers epigenetica|0 Reacties
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