Article
Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
The New England journal of medicine - 29 Jun 2023
DeBoy Emily A, Tassia Michael G, Schratz Kristen E, Yan Stephanie M, Cosner Zoe L, McNally Emily J, Gable Dustin L, Xiang Zhimin, Lombard David B, Antonarakis Emmanuel S, Gocke Christopher D, McCoy Rajiv C, Armanios Mary
Abstract excerpt
BACKGROUND: Telomere shortening is a well-characterized cellular aging mechanism, and short telomere syndromes cause age-related disease. However, whether long telomere length is advantageous is poorly understood. METHODS: We examined the clinical and molecular features of aging and cancer in persons carrying heterozygous loss-of-function mutations in the telomere-related gene POT1 and noncarrier relatives....
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