APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients Published: January, 2018 Abstract:
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”. The subjects are compo... Read more »
Autonomous silencing of the imprinted Cdkn1c gene in stem cells Published: April, 2010 Abstract:
Parent-of-origin specific expression of imprinted genes relies on the differential DNA methylation of specific genomic regions. Differentially methylated regions (DMRs) acquire DNA methylation either during gametogenesis (primary DMR) or after fer... Read more »
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