Corey DR. Telomeres and telomerase: from discovery to clinical trials. Chem Biol. 2009;16(12):1219–23.

Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

Armanios M, Blackburn EH. The telomere syndromes. Nat Rev Genet. 2012;13(10):693–704.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet. 2009;10:45–61.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Armanios M. Telomeres and age-related disease: how telomere biology informs clinical paradigms. J Clin Invest. 2013;123(3):996–1002.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dokal I. Dyskeratosis congenita. Hematol Am Soc Hematol Educ Program. 2011;2011:480–6.

Article  Google Scholar 

••Vieri M, Brümmendorf TH, Beier F. Treatment of telomeropathies. Best Pract Res Clin Haematol. 2021;34(2):101282 (This review article is a useful summary of recent updates in the management of TBD for clinical practice among providers of all specialties.).

Byrjalsen A, Brainin AE, Lund TK, Andersen MK, Jelsig AM. Size matters in telomere biology disorders - expanding phenotypic spectrum in patients with long or short telomeres. Hered Cancer Clin Pract. 2023;21(1):7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Armanios M. Telomeres in the Clinic, Not on TV. Mayo Clin Proc. 2018;93(7):815–7.

Article  PubMed  Google Scholar 

Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am. 2009;23(2):215–31.

Article  PubMed  PubMed Central  Google Scholar 

Gutierrez-Rodrigues F, Santana-Lemos BA, Scheucher PS, Alves-Paiva RM, Calado RT. Direct comparison of flow-FISH and qPCR as diagnostic tests for telomere length measurement in humans. PLoS ONE. 2014;9(11):e113747.

Article  ADS  PubMed  PubMed Central  Google Scholar 

Kam MLW, Nguyen TTT, Ngeow JYY. Telomere Biology disorders. NPJ Genom Med. 2021;6(1):36.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mangaonkar AA, Ferrer A, Vairo FPE, Hammel CW, Prochnow C, Gangat N, et al. Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths. Blood Cancer J. 2021;11(10):170.

Article  PubMed  PubMed Central  Google Scholar 

Jonassaint NL, Guo N, Califano JA, Montgomery EA, Armanios M. The gastrointestinal manifestations of telomere-mediated disease. Aging Cell. 2013;12(2):319–23.

Article  CAS  PubMed  Google Scholar 

Lee J, Cheeseman E, Matheus M, Kasi N. A primary gastrointestinal presentation and novel genetic variant of dyskeratosis congenita in a pediatric patient. JPGN Rep. 2022;3(3):e242.

Article  PubMed  PubMed Central  Google Scholar 

Rodriguez K, Shargo R, Ekblad M, Sunkersett G, Karjoo S, Betensky M, et al. Endoscopic Assessment and serial balloon dilatation in a toddler with Dyskeratosis Congenita-Hoyeraal-Hreidarsson syndrome following bone marrow transplant: a case report. JPGN Rep. 2023;4(2):e291.

Article  PubMed  PubMed Central  Google Scholar 

Yaghmai R, Kimyai-Asadi A, Rostamiani K, Heiss NS, Poustka A, Eyaid W, et al. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr. 2000;136(3):390–3.

Article  CAS  PubMed  Google Scholar 

McDonald GB, Sullivan KM, Schuffler MD, Shulman HM, Thomas ED. Esophageal abnormalities in chronic graft-versus-host disease in humans. Gastroenterology. 1981;80(5 pt 1):914–21.

Article  CAS  PubMed  Google Scholar 

Shulman HM, Kleiner D, Lee SJ, Morton T, Pavletic SZ, Farmer E, et al. Histopathologic diagnosis of chronic graft-versus-host disease: National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: II Pathology Working Group Report. Biol Blood Marrow Transplant. 2006;12(1):31–47.

Article  PubMed  Google Scholar 

Chakravarti D, Lee R, Multani AS, Santoni A, Keith Z, Hsu WH, et al. Telomere dysfunction instigates inflammation in inflammatory bowel disease. Proc Natl Acad Sci USA. 2021;118(29):e2024853118.

Borggraefe I, Koletzko S, Arenz T, Fuehrer M, Hoffmann F, Dokal I, et al. Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy. J Pediatr Gastroenterol Nutr. 2009;49(3):359–63.

Article  PubMed  Google Scholar 

• Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, et al. Gastrointestinal hemorrhage: a manifestation of the telomere biology disorders. J Pediatr. 2021;230:55-61.e4 (Case series describing the causes and management of GI bleeding with relevance across the TBD spectrum.).

Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, et al. Understanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis. 2019;22(1):95–102.

Kapuria D, Ben-Yakov G, Ortolano R, Cho MH, Kalchiem-Dekel O, Takyar V, et al. The spectrum of hepatic involvement in patients with telomere disease. Hepatology. 2019;69(6):2579–85.

Article  CAS  PubMed  Google Scholar 

• Penrice DD, Jalan-Sakrikar N, Jurk D, Passos JF, Simonetto DA. Telomere dysfunction in chronic liver disease: the link from aging. Hepatology. 2023. (Article with recent data and good follow-up duration showing favorable clinical outcomes after liver transplantations.)

Rattan P, Penrice DD, Ahn JC, Ferrer A, Patnaik M, Shah VH, et al. Inverse association of telomere length with liver disease and mortality in the US population. Hepatol Commun. 2022;6(2):399–410.

Article  CAS  PubMed  Google Scholar 

Kitada T, Seki S, Kawakita N, Kuroki T, Monna T. Telomere shortening in chronic liver diseases. Biochem Biophys Res Commun. 1995;211(1):33–9.

Article  CAS  PubMed  Google Scholar 

Hartmann D, Srivastava U, Thaler M, Kleinhans KN, N’Kontchou G, Scheffold A, et al. Telomerase gene mutations are associated with cirrhosis formation. Hepatology. 2011;53(5):1608–17.

Article  CAS  PubMed  Google Scholar 

• Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, et al. Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders. Hepatology. 2023. (Discusses predictors of progression to portal hypertension among patients with TBD and liver enzyme abnormalities.)

Hoodeshenas S, Yin M, Venkatesh SK. Magnetic resonance elastography of liver: current update. Top Magn Reson Imaging. 2018;27(5):319–33.

Article  PubMed  PubMed Central  Google Scholar 

Patnaik MM, Kamath PS, Simonetto DA. Hepatic manifestations of telomere biology disorders. J Hepatol. 2018;69(3):736–43.

Article  CAS  PubMed  Google Scholar 

Mangaonkar AA, Ferrer A, Pinto EVF, Cousin MA, Kuisle RJ, Klee EW, et al. Clinical correlates and treatment outcomes for patients with short telomere syndromes. Mayo Clin Proc. 2018;93(7):834–9.

Article  CAS  PubMed  Google Scholar 

Oseini AM, Hamilton JP, Hammami MB, Kim A, Oshima K, Woreta T, et al. Liver transplantation in short telomere-mediated hepatopulmonary syndrome following bone marrow transplantation using HCV positive allografts: a case series. Liver Transpl. 2021;27(12):1844–8.

Article  PubMed  PubMed Central  Google Scholar 

Wanless IR, Solt LC, Kortan P, Deck JH, Gardiner GW, Prokipchuk EJ. Nodular regenerative hyperplasia of the liver associated with macroglobulinemia A clue to the pathogenesis. Am J Med. 1981;70(6):1203–9.

Article  CAS  PubMed  Google Scholar 

Gorgy AI, Jonassaint NL, Stanley SE, Koteish A, DeZern AE, Walter JE, et al. Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders. Chest. 2015;148(4):1019–26.

Article  PubMed  PubMed Central  Google Scholar 

Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, et al. Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017;49(1).

Vettukattil JJ. Pathogenesis of pulmonary arteriovenous malformations: role of hepatopulmonary interactions. Heart. 2002;88(6):561–3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Townsley DM, Dumitriu B, Liu D, Biancotto A, Weinstein B, Chen C, et al. Danazol treatment for telomere diseases. N Engl J Med. 2016;374(20):1922–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rudolph KL, Chang S, Millard M, Schreiber-Agus N, DePinho RA. Inhibition of experimental liver cirrhosis in mice by telomerase gene delivery. Science. 2000;287(5456):1253–8.

Article  ADS  CAS  PubMed  Google Scholar 

Udomsinprasert W, Sobhonslidsuk A, Jittikoon J, Honsawek S, Chaikledkaew U. Cellular senescence in liver fibrosis: implications for age-related chronic liver diseases. Expert Opin Ther Targets. 2021;25(9):799–813.

Article  CAS  PubMed  Google Scholar 

Penrice DD, Havlichek D 3rd, Kamath PS, Simonetto DA. Outcomes following liver transplant in adults with telomere biology disorders. J Hepatol. 2022;76(1):214–6.

Article  PubMed  Google Scholar 

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