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The aim of this project is to study human repetitive elements on human chromosome 21 in a heterologous mouse environment (Tc1 mouse). To determine the unbiased regulation of the human genome, suppressed regions of human chromosome 21 were identified in vivo in liver and testes of human and Tc1 mouse...
ORGANISM(S): Mus musculus 
Small RNA pathways play evolutionarily conserved roles in gene regulation and in defense from pathogenic and parasitic nucleic acids. The character and expression patterns of small RNAs show conservation throughout animal lineages, but specific animal clades also show variations on these recurring t...
ORGANISM(S): Tachyglossus aculeatus 

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
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