Journal
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 213, Issue 8, Pages 1429-1440Publisher
ROCKEFELLER UNIV PRESS
DOI: 10.1084/jem.20151618
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Funding
- Jeffrey Model Foundation (JMF)
- NIH [R21AI111208]
- Israel Science Foundation [883/12, 1729/13, 1667/12]
- Worldwide Cancer Research [15-0338]
- Israel Cancer Research Fund
- Israeli Centers of Excellence (I-CORE) Program (ISF) [41/11, 1796/12]
- Ernest and Bonnie Beutler Research Program
- Sagol Neuroscience Network
- Teva National Network of Excellence in Neuroscience
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The analysis of individuals with telomere defects may shed light on the delicate interplay of factors controlling genome stability, premature aging, and cancer. We herein describe two Coats plus patients with telomere and genomic defects; both harbor distinct, novel mutations in STN1, a member of the human CTC1-STN1-TEN1 (CST) complex, thus linking this gene for the first time to a human telomeropathy. We characterized the patients' phenotype, recapitulated it in a zebrafish model and rescued cellular and clinical aspects by the ectopic expression of wild-type STN1 or by thalidomide treatment. Interestingly, a significant lengthy control of the gastrointestinal bleeding in one of our patients was achieved by thalidomide treatment, exemplifying a successful bed-to-bench-and-back approach.
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