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Article

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

19 Mar 2019

Abstract excerpt

Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly to cardiovascular disease via increased cytokine and chemokine expression as reported in mice. Here, we discover a germline TET2 mutation in a lymphoma family. We observe neither unusual predisposition to atherosclerosis nor abnormal pro-inflammatory cytokine or...

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PMID: 30890702
DOI: 10.1038/s41467-019-09198-7

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