Research & Literature

Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Gorgy AI, Jonassaint NL, Stanley SE, et al.

Chest 2015; (148(4)):1019-1026 doi:10.1378/chest.15-0825.

The molecular genetics of the telomere biology disorders.

Bertuch AA

RNA biology 2016; (13(8)):696-706 doi:10.1080/15476286.2015.1094596.

A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation.

Nelson AS, Marsh RA, Myers KC, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2016; (22(5)):884-8.

Danazol Treatment for Telomere Diseases.

Townsley DM, Dumitriu B, Liu D, et al.

The New England journal of medicine 2016; (374(20)):1922-31 doi:10.1056/NEJMoa1515319.

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.

Borie R, Tabèze L, Thabut G, et al.

The European respiratory journal 2016; (48(6)):1721-1731 doi:10.1183/13993003.02115-2015.

Comparison of telomere length measurement methods.

Lai TP, Wright WE, Shay JW

Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2018; (373(1741)) doi:10.1098/rstb.2016.0451.

Diagnostic utility of telomere length testing in a hospital-based setting.

Alder JK, Hanumanthu VS, Strong MA, et al.

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(10)):E2358-E2365 doi:10.1073/pnas.1720427115.

Pulmonary phenotypes associated with genetic variation in telomere-related genes.

Hoffman TW, van Moorsel CHM, Borie R, Crestani B

Current opinion in pulmonary medicine 2018; (24(3)):269-280 doi:10.1097/MCP.0000000000000475.

Hepatic manifestations of telomere biology disorders.

Patnaik MM, Kamath PS, Simonetto DA

Journal of hepatology 2018; (69(3)):736-743 doi:10.1016/j.jhep.2018.05.006.

Beginning at the ends: telomeres and human disease.

Savage SA

F1000Research 2018; (7()) doi:10.12688/f1000research.14068.1.

Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside.

Mangaonkar AA, Patnaik MM

Mayo Clinic proceedings 2018; (93(7)):904-916 doi:10.1016/j.mayocp.2018.03.020.

Telomeres in Interstitial Lung Disease: The Short and the Long of It.

Courtwright AM, El-Chemaly S

Annals of the American Thoracic Society 2019; (16(2)):175-181 doi:10.1513/AnnalsATS.201808-508CME.

The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Kapuria D, Ben-Yakov G, Ortolano R, et al.

Hepatology (Baltimore, Md.) 2019; (69(6)):2579-2585 doi:10.1002/hep.30578.

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder.

Giri N, Ravichandran S, Wang Y, et al.

ERJ open research 2019; (5(4)) doi:10.1183/23120541.00209-2019.

Cancer spectrum and outcomes in the Mendelian short telomere syndromes.

Schratz KE, Haley L, Danoff SK, et al.

Blood 2020; (135(22)):1946-1956 doi:10.1182/blood.2019003264.

Extrahematopoietic manifestations of the short telomere syndromes.

Schratz KE

Hematology. American Society of Hematology. Education Program 2020; (2020(1)):115-122 doi:10.1182/hematology.2020000170.

Molecular mechanisms of telomere biology disorders.

Grill S, Nandakumar J

The Journal of biological chemistry 2021; (296()):100064 doi:10.1074/jbc.REV120.014017.

Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization.

Lim CJ, Cech TR

Nature reviews. Molecular cell biology 2021; (22(4)):283-298 doi:10.1038/s41580-021-00328-y.

The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Reilly CR, Myllymäki M, Redd R, et al.

Blood 2021; (138(10)):898-911 doi:10.1182/blood.2021011075.

Lung transplantation for interstitial lung disease.

Kapnadak SG, Raghu G

European respiratory review : an official journal of the European Respiratory Society 2021; (30(161)) doi:10.1183/16000617.0017-2021.

Lung Transplant Improves Survival and Quality of Life Regardless of Telomere Dysfunction.

Planas-Cerezales L, Arias-Salgado EG, Berastegui C, et al.

Frontiers in medicine 2021; (8()):695919 doi:10.3389/fmed.2021.695919.

Treatment of telomeropathies.

Vieri M, Brümmendorf TH, Beier F

Best practice & research. Clinical haematology 2021; (34(2)):101282 doi:10.1016/j.beha.2021.101282.

Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.

Wang P, Xu Z

BMC pulmonary medicine 2021; (21(1)):279 doi:10.1186/s12890-021-01645-w.

Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.

van der Vis JJ, van der Smagt JJ, van Batenburg AA, et al.

Respirology (Carlton, Vic.) 2021; (26(12)):1160-1170 doi:10.1111/resp.14145.

Hematopoiesis under telomere attrition at the single-cell resolution.

Thongon N, Ma F, Santoni A, et al.

Nature communications 2021; (12(1)):6850 doi:10.1038/s41467-021-27206-7.

Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita.

Thompson MB, Muldoon D, de Andrade KC, et al.

EBioMedicine 2022; (75()):103760 doi:10.1016/j.ebiom.2021.103760.

Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia.

Janczar S, Kirschner M, Beier F, et al.

Pediatric blood & cancer 2022; (69(10)):e29909 doi:10.1002/pbc.29909.

Telomere biology disorders: time for moving towards the clinic?

Batista LFZ, Dokal I, Parker R

Trends in molecular medicine 2022; (28(10)):882-891 doi:10.1016/j.molmed.2022.08.001.

Recent advances in understanding telomere diseases.

Carvalho VS, Gomes WR, Calado RT

Faculty reviews 2022; (11()):31 doi:10.12703/r/11-31.

Dyskeratosis congenita and telomere biology disorders.

Savage SA

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):637-648 doi:10.1182/hematology.2022000394.

Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria.

Tometten M, Kirschner M, Meyer R, et al.

HemaSphere 2023; (7(5)):e874 doi:10.1097/HS9.0000000000000874.

Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.

Alonso-Gonzalez A, Tosco-Herrera E, Molina-Molina M, Flores C

Frontiers in medicine 2023; (10()):1152211 doi:10.3389/fmed.2023.1152211.

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

Vittal A, Niewisch MR, Bhala S, et al.

Hepatology (Baltimore, Md.) 2023; (78(6)):1777-1787 doi:10.1097/HEP.0000000000000461.

Spectrum of Liver Pathology in Dyskeratosis Congenita.

Putra J, Agarwal S, Al-Ibraheemi A, et al.

The American journal of surgical pathology 2023; (47(8)):869-877 doi:10.1097/PAS.0000000000002060.

Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.

Ongie L, Raj HA, Stevens KB

Current hematologic malignancy reports 2023; (18(6)):273-283 doi:10.1007/s11899-023-00713-8.

Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease.

Banaszak LG, Smith-Simmer K, Shoger K, et al.

Respiratory medicine 2023; (220()):107464 doi:10.1016/j.rmed.2023.107464.

Clinical manifestations of telomere biology disorders in adults.

Niewisch MR, Beier F, Savage SA

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):563-572 doi:10.1182/hematology.2023000490.

Diagnosis and Management of Pulmonary Manifestations of Telomere Biology Disorders.

Del Valle KT, Carmona EM

Current hematologic malignancy reports 2024; (19(6)):285-292 doi:10.1007/s11899-023-00720-9.

Pulmonary, Hepatic, and Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Telomere Biology Disorders.

Pennington KM, Simonetto D, Taner T, Mangaonkar AA

Current hematologic malignancy reports 2024; (19(6)):293-299 doi:10.1007/s11899-024-00724-z.

Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.

Wang YM, Kaj-Carbaidwala B, Lane A, et al.

Hepatology communications 2024; (8(7)) doi:10.1097/HC9.0000000000000462.

Clinical Impact of Telomere Length Testing for Interstitial Lung Disease.

Zhang D, Eckhardt CM, McGroder C, et al.

Chest 2024; (166(5)):1071-1081 doi:10.1016/j.chest.2024.06.006.

Allogeneic Hematopoietic Cell Transplant For Bone Marrow Failure or Myelodysplastic Syndrome in Dyskeratosis Congenita/Telomere Biology Disorders: Single-Center, Single-Arm, Open-Label Trial of Reduced-Intensity Conditioning Without Radiation.

Dimitrov M, Merkle S, Cao Q, et al.

Transplantation and cellular therapy 2024; (30(10)):1005.e1-1005.e17 doi:10.1016/j.jtct.2024.07.007.

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H, Walne AJ, Badat M, et al.

EMBO molecular medicine 2024; (16(10)):2560-2582.

Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients.

Maillet F, Galimard JE, Borie R, et al.

British journal of haematology 2024; (205(5)):1835-1847 doi:10.1111/bjh.19767.

Germline RTEL1 Variants in Telomere Biology Disorders.

Thompson AS, Niewisch MR, Giri N, et al.

American journal of medical genetics. Part A 2025; (197(2)):e63882 doi:10.1002/ajmg.a.63882.

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR, Kim J, Giri N, et al.

JAMA network open 2024; (7(12)):e2450111 doi:10.1001/jamanetworkopen.2024.50111.

TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.

Yu G, Xin G, Liu X, et al.

Journal of medical case reports 2025; (19(1)):32 doi:10.1186/s13256-025-05031-6.

Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.

Tometten M, Beier F, Kirschner M, et al.

Blood advances 2025; (9(9)):2183-2191 doi:10.1182/bloodadvances.2024014632.

Telomeropathies in Interstitial Lung Disease and Lung Transplant Recipients.

Southern BD, Gadre SK

Journal of clinical medicine 2025; (14(5)) doi:10.3390/jcm14051496.

Telomeropathy: pretransplant and posttransplant considerations for clinicians.

Mackintosh JA

Current opinion in pulmonary medicine 2025; (31(4)):366-373 doi:10.1097/MCP.0000000000001169.

Hepatopulmonary syndrome in patients with porto-sinusoidal vascular disorder: Characteristics and outcome.

Sidali S, Spaes Y, El Husseini K, et al.

JHEP reports : innovation in hepatology 2025; (7(4)):101310 doi:10.1016/j.jhepr.2024.101310.

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM, Chen S, Mitchell DV, et al.

The Journal of clinical investigation 2025; (135(8)).

Clinical and molecular features of immunodeficiency in patients with telomere biology disorders.

Bazzo Catto LF, Aggarwal N, Shalhoub R, et al.

Blood 2025; (146(10)):1187-1193 doi:10.1182/blood.2024026735.

Telomere biology disorders in lung transplantation: Clinical challenges and management strategies.

Mesli F, Philippot Q, El Husseini K, et al.

JHLT open 2025; (9()):100333 doi:10.1016/j.jhlto.2025.100333.

Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis Congenita.

Cao Q, Zhao A, Long Z, et al.

Human mutation 2025; (2025()):9290736 doi:10.1155/humu/9290736.

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia.

DeCleene NF, Nguyen DT, Kirk SE, et al.

British journal of haematology 2026; (208(3)):1093-1104 doi:10.1111/bjh.70155.

Evaluation of a screening protocol for telomere biology disorders in individuals with interstitial lung disease undergoing lung transplant evaluation.

Zhu D, Patel NB, Pishko AM, et al.

ERJ open research 2025; (11(5)) doi:10.1183/23120541.00875-2024.

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.

Evrard O, Philippot Q, Kannengiesser C, et al.

ERJ open research 2026; (12(1)) doi:10.1183/23120541.00417-2025.

Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.

Carlier FM, Planté-Bordeneuve T, Froidure A, et al.

Frontiers in immunology 2025; (16()):1718107 doi:10.3389/fimmu.2025.1718107.

Monoallelic PARN mutation presenting as pancytopenia, hepatic fibrosis and idiopathic pulmonary fibrosis.

Soni J, Sam KS, Taneja V, Khosla P

BMJ case reports 2026; (19(2)) doi:10.1136/bcr-2025-268918.

Bone marrow failure in telomere biology disorders: Current understanding and the emerging landscape of non-transplant therapies.

Wen JM, Gloude NJ, Ebens CL

Seminars in hematology 2025; (62(6)):473-478 doi:10.1053/j.seminhematol.2026.03.002.

Stem cell transplantation and gene therapy for telomere biology disorders: Historical perspective, current approaches, and emerging strategies.

Koo J, Reed HD, Myers KC, Agarwal S

Seminars in hematology 2025; (62(6)):493-502 doi:10.1053/j.seminhematol.2026.03.001.

Late-onset dyskeratosis congenita due to a TERC (n.269G > C) variant-first reported case from Indonesia: a case report.

Leo B, Hartandy I, Hutajulu SH, et al.

Journal of medical case reports 2026; (20(1)).

Diagnosis and management of telomere biology disorders in developing countries.

Rodríguez A, Avendaño-Robles BA, Catto MB, et al.

Seminars in hematology 2025; (62(6)):521-531 doi:10.1053/j.seminhematol.2026.04.004.

Telomere biology disorders and hepatic disease.

Pirzada SA, Aleyadeh W, Fathma S, et al.

Seminars in hematology 2025; (62(6)):503-512 doi:10.1053/j.seminhematol.2026.05.004.

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome.

Courtwright A, King RA, Vagher J, et al.

Clinical genetics 2026; (110(2)):139-149 doi:10.1111/cge.70190.

A rare TERT p.Ala880Thr variant associated with familial pulmonary fibrosis and multisystem involvement: Intrafamilial heterogeneity in a Vietnamese kindred - A case series.

Nguyen-Dang N, Tran-Le QK, Nguyen-Dang K, et al.

Therapeutic advances in respiratory disease 2026; (20()):17534666261475563 doi:10.1177/17534666261475563.

Familial pulmonary fibrosis: a UK consensus framework for the investigation and management of patients and their relatives.

Bowden AR, Morris-Rosendahl DJ, Hanson H, et al.

Thorax 2026; doi:10.1136/thorax-2026-225625.