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T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.
Cancer Cell. 2023 Apr 10;41(4):807-817.e6. doi: 10.1016/j.ccell.2023.03.005. Epub 2023 Apr 2.
Cancer Cell. 2023.
PMID: 37037617
Free PMC article.
Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.
Schratz KE, Gaysinskaya V, Cosner ZL, DeBoy EA, Xiang Z, Kasch-Semenza L, Florea L, Shah PD, Armanios M.
Schratz KE, et al.
J Clin Invest. 2021 Sep 15;131(18):e147598. doi: 10.1172/JCI147598.
J Clin Invest. 2021.
PMID: 34343137
Free PMC article.
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Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.
Gaysinskaya V, Stanley SE, Adam S, Armanios M.
Gaysinskaya V, et al.
Chest. 2020 Dec;158(6):2449-2457. doi: 10.1016/j.chest.2020.07.025. Epub 2020 Jul 22.
Chest. 2020.
PMID: 32710892
Free PMC article.
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ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE, Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L, Armanios M.
Gable DL, et al.
Genes Dev. 2019 Oct 1;33(19-20):1381-1396. doi: 10.1101/gad.326785.119. Epub 2019 Sep 5.
Genes Dev. 2019.
PMID: 31488579
Free PMC article.
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