）的家族中报告了生殖细胞系突变。
Harley CB, Futcher AB, Greider CW. Telomeres shorten during ageing of human fibroblasts. Nature 1990;345:458-460.
2.Armanios M, Blackburn EH. The telomere syndromes. Nat Rev Genet 2012;13:693-704.
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3.Armanios M, Chen JL, Chang YP, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A 2005;102:15960-15964.
4.Parry EM, Alder JK, Qi X, Chen JJ, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood 2011;117:5607-5611.
5.Wagner CL, Hanumanthu VS, Talbot CC Jr, et al. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest 2018;128:5222-5234.
6.Jonassaint NL, Guo N, Califano JA, Montgomery EA, Armanios M. The gastrointestinal manifestations of telomere-mediated disease. Aging Cell 2013;12:319-323.
7.Baumann P, Cech TR. Pot1, the putative telomere end-binding protein in fission yeast and humans. Science 2001;292:1171-1175.
8.Wang F, Podell ER, Zaug AJ, et al. The POT1-TPP1 telomere complex is a telomerase processivity factor. Nature 2007;445:506-510.
9.Ye JZ-S, Hockemeyer D, Krutchinsky AN, et al. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. Genes Dev 2004;18:1649-1654.
10. Kelleher C, Kurth I, Lingner J. Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro. Mol Cell Biol 2005;25:808-818.
11. Ramsay AJ, Quesada V, Foronda M, et al. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat Genet 2013;45:526-530.
12. Robles-Espinoza CD, Harland M, Ramsay AJ, et al. POT1 loss-of-function variants predispose to familial melanoma. Nat Genet 2014;46:478-481.
13. Shi J, Yang XR, Ballew B, et al. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet 2014;46:482-486.
14. Bainbridge MN, Armstrong GN, Gramatges MM, et al. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst 2014;107:384-384.
15. Speedy HE, Kinnersley B, Chubb D, et al. Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. Blood 2016;128:2319-2326.
16. Takai H, Jenkinson E, Kabir S, et al. A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus. Genes Dev 2016;30:812-826.
17. Pinzaru AM, Hom RA, Beal A, et al. Telomere replication stress induced by POT1 inactivation accelerates tumorigenesis. Cell Rep 2016;15:2170-2184.
18. Schratz KE, Gaysinskaya V, Cosner ZL, et al. Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders. J Clin Invest 2021;131(18):e147598-e147598.
19. Kim W-T, Hennick K, Johnson J, et al. Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response. EMBO J 2021;40(12):e107346-e107346.
20. Kelich J, Aramburu T, van der Vis JJ, et al. Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis. J Exp Med 2022;219(5):e20211681-e20211681.
21. Alder JK, Hanumanthu VS, Strong MA, et al. Diagnostic utility of telomere length testing in a hospital-based setting. Proc Natl Acad Sci U S A 2018;115(10):E2358-E2365.
22. R: a language and environment for statistical computing. Vienna: R Project for Statistical Computing(/).
23. Wong K, Robles-Espinoza CD, Rodriguez D, et al. Association of the POT1 germline missense variant p.I78T with familial melanoma. JAMA Dermatol 2019;155:604-609.
24. Emerson RO, DeWitt WS, Vignali M, et al. Immunosequencing identifies signatures of cytomegalovirus exposure history and HLA-mediated effects on the T cell repertoire. Nat Genet 2017;49:659-665.
25. Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood 2015;126:9-16.
26. Jones AV, Chase A, Silver RT, et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 2009;41:446-449.
27. Olcaydu D, Harutyunyan A, Jäger R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet 2009;41:450-454.
28. Mitchell E, Spencer Chapman M, Williams N, et al. Clonal dynamics of haematopoiesis across the human lifespan. Nature 2022;606:343-350.
29. Alexandrov LB, Kim J, Haradhvala NJ, et al. The repertoire of mutational signatures in human cancer. Nature 2020;578:94-101.
30. Williams N, Lee J, Mitchell E, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature 2022;602:162-168.
31. Van Egeren D, Escabi J, Nguyen M, et al. Reconstructing the lineage histories and differentiation trajectories of individual cancer cells in myeloproliferative neoplasms. Cell Stem Cell 2021;28(3):514-523.e9.
32. Lim TL, Lieberman DB, Davis AR, et al. Germline POT1 variants can predispose to myeloid and lymphoid neoplasms. Leukemia 2022;36:283-287.
33. Brabrand M, Frederiksen H. Risks of solid and lymphoid malignancies in patients with myeloproliferative neoplasms: clinical implications. Cancers (Basel) 2020;12:3061-3061.
34. Schratz KE, Haley L, Danoff SK, et al. Cancer spectrum and outcomes in the Mendelian short telomere syndromes. Blood 2020;135:1946-1956.
35. Bick AG, Weinstock JS, Nandakumar SK, et al. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature 2020;586:763-768.
36. McNally EJ, Luncsford PJ, Armanios M. Long telomeres and cancer risk: the price of cellular immortality. J Clin Invest 2019;129:3474-3481.
37. Kar SP, Quiros PM, Gu M, et al. Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis. Nat Genet 2022;54:1155-1166.
38. Armanios M. The role of telomeres in human disease. Annu Rev Genomics Hum Genet 2022;23:363-381.
39. Rafnar T, Gunnarsson B, Stefansson OA, et al. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. Nat Commun 2018;9:3636-3636.
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