ArticleNature communications2019
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Chromatin state origins of uterine leiomyoma.Nature communications · 2025Pooled it
- Vitamin C boosts DNA demethylation in TET2 germline mutation carriers.Clinical epigenetics · 2023Trial
- Pediatric Mediastinal Gray Zone Lymphoma With Germline TET2 Heterozygous Variant.Pediatric blood & cancer · 2026Article
- Inflammageing and clonal haematopoiesis interplay and their impact on human disease.Nature reviews. Molecular cell biology · 2026Review
- TET2 germline mutation in a patient with sequential lymphoid malignancies: a novel case report.Annals of hematology · 2026Article
- Common clonal hematopoiesis driver mutations have disparate effects on macrophage cytokines, clonal expansion, and atherogenesis.JCI insight · 2026Article
- Silent, but not innocent: the emerging role of clonal hematopoiesis in predicting therapy-related myeloid neoplasms.Frontiers in oncology · 2026Review
- Article
- Comprehensive metabolomic and epigenomic characterization of microsatellite stable BRAF-mutated colorectal cancer.Oncogene · 2025Article
- Heterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype.British journal of haematology · 2025Article
- Landscape of TET2 Mutations: From Hematological Malignancies to Solid Tumors.Cancer medicine · 2025Review
- DNA demethylase Tet2 promotes the terminal maturation of natural killer cells.Immunologic research · 2024Article
- Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.Cancer discovery · 2024Article
- Cell of origin epigenetic priming determines susceptibility to Tet2 mutation.Nature communications · 2024Article
- Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.medRxiv : the preprint server for health sciences · 2023Article
- Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.Nature genetics · 2023Article
- Alterations of the expression of TET2 and DNA 5-hmC predict poor prognosis in Myelodysplastic Neoplasms.BMC cancer · 2023Article
- Clonal haematopoiesis and dysregulation of the immune system.Nature reviews. Immunology · 2023Review
- Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.Nature communications · 2023Article
- Rare diseases of epigenetic origin: Challenges and opportunities.Frontiers in genetics · 2023Review
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
35 authors at 8 institutions in 4 countries.
Funding
Abstract
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 chemokine expression. The latter finding is confirmed in cells from three additional unrelated TET2 germline mutation carriers. The TET2 defect elevates blood DNA methylation levels, especially at active enhancers and cell-type specific regulatory regions with binding sequences of master transcription factors involved in hematopoiesis. The regions display reduced methylation relative to all open chromatin regions in four DNMT3A germline mutation carriers, potentially due to TET2-mediated oxidation. Our findings provide insight into the interplay between epigenetic modulators and transcription factor activity in hematological neoplasia, but do not confirm the putative role of TET2 in atherosclerosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.