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ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders

3 Apr 2025

Abstract excerpt

Telomere biology disorders (TBDs) are genetic diseases caused by defective telomere maintenance. TBD patients often develop bone marrow failure and have an increased risk of myeloid neoplasms. To better understand the factors underlying hematopoietic outcomes in TBD, we comprehensively evaluated acquired genetic alterations in hematopoietic cells from 166 pediatric and adult TBD patients. Of these patients, 47.6%...

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PMID: 40179146
DOI: 10.1172/jci181659

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