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Germline and Somatic Mutations in DNA Methyltransferase 3A<i>(DNMT3A)</i>Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice:<i>Implications for Associated PAH</i>

2023-12-31

Abstract excerpt

<h4>Background</h4> Mutations are found in 10-20% of idiopathic PAH (IPAH) patients, but none are consistently identified in connective tissue disease-associated PAH (APAH), which accounts for ∼45% of PAH cases. TET2 mutations, a cause of clonal hematopoiesis of indeterminant potential (CHIP), predispose to an inflammatory type of PAH. We now examine mutations in another CHIP gene, DNMT3A , in PAH. <h4>Methods</h4...

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Literature Corpus work
b1dbf149-c1ea-587e-9366-848ea9a9a5fc
DOI
10.1101/2023.12.30.23300391
Open publication

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Germline and Somatic Mutations in DNA Methyltransferase 3A<i>(DNMT3A)</i>Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice:<i>Implications for Associated PAH</i>DOI 10.1101/2023.12.30.23300391
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