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For: Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007;110:1439-47. [PMID: 17468339 PMCID: PMC1975834 DOI: 10.1182/blood-2007-02-075598] [Citation(s) in RCA: 251] [Impact Index Per Article: 13.9] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/22/2007] [Accepted: 04/22/2007] [Indexed: 02/07/2023]  Open
Number Cited by Other Article(s)
1
Yu G, Xin G, Liu X, Li W, Shao C, Gao R. TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report. J Med Case Rep 2025;19:32. [PMID: 39849589 PMCID: PMC11759448 DOI: 10.1186/s13256-025-05031-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/17/2024] [Accepted: 01/06/2025] [Indexed: 01/25/2025]  Open
2
Liu YC, Eldomery MK, Maciaszek JL, Klco JM. Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications. ANNUAL REVIEW OF PATHOLOGY 2025;20:87-114. [PMID: 39357070 PMCID: PMC12048009 DOI: 10.1146/annurev-pathmechdis-111523-023420] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/04/2024]
3
Roka K, Solomou E, Kattamis A, Stiakaki E. Telomere biology disorders: from dyskeratosis congenita and beyond. Postgrad Med J 2024;100:879-889. [PMID: 39197110 DOI: 10.1093/postmj/qgae102] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/18/2024] [Revised: 07/05/2024] [Accepted: 07/31/2024] [Indexed: 08/30/2024]
4
Hussein-Agha R, Kannengiesser C, Lainey E, Marcais A, Srour M, Sterin A, Buchbinder N, Borie R, Plessier A, Socié G, Peffault de Latour R, Sicre de Fontbrune F. Alemtuzumab-based conditioning regimen before hematopoietic stem cell transplantation in patients with short telomere syndromes: a retrospective study of the SFGM-TC. Bone Marrow Transplant 2024;59:1428-1432. [PMID: 39080469 DOI: 10.1038/s41409-024-02381-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2024] [Revised: 07/17/2024] [Accepted: 07/24/2024] [Indexed: 10/06/2024]
5
Rolles B, Tometten M, Meyer R, Kirschner M, Beier F, Brümmendorf TH. Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment. Transfus Med Hemother 2024;51:292-309. [PMID: 39371255 PMCID: PMC11452174 DOI: 10.1159/000540109] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/01/2024] [Accepted: 06/25/2024] [Indexed: 10/08/2024]  Open
6
Strauss JD, Brown DW, Zhou W, Dagnall C, Yuan JM, Im A, Savage SA, Wang Y, Rafati M, Spellman SR, Gadalla SM. Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia. Br J Haematol 2024;205:1180-1187. [PMID: 39103182 PMCID: PMC11499016 DOI: 10.1111/bjh.19681] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/06/2024] [Accepted: 07/21/2024] [Indexed: 08/07/2024]
7
Villa A, William WN, Hanna GJ. Cancer Precursor Syndromes and Their Detection in the Head and Neck. Hematol Oncol Clin North Am 2024;38:813-830. [PMID: 38705773 DOI: 10.1016/j.hoc.2024.04.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/07/2024]
8
Coukos A, Saglietti C, Sempoux C, Haubitz M, Greuter T, Mittaz-Crettol L, Maurer F, Mdawar-Bailly E, Moradpour D, Alberio L, Good JM, Baerlocher GM, Fraga M. High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder. Hepatol Commun 2024;8:e0500. [PMID: 39037376 PMCID: PMC11265777 DOI: 10.1097/hc9.0000000000000500] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/22/2024] [Accepted: 06/01/2024] [Indexed: 07/23/2024]  Open
9
Lin F, Cao K, Chang F, Oved JH, Luo M, Fan Z, Schubert J, Wu J, Zhong Y, Gallo DJ, Denenberg EH, Chen J, Fanning EA, Lambert MP, Paessler ME, Surrey LF, Zelley K, MacFarland S, Kurre P, Olson TS, Li MM. Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel. J Mol Diagn 2024;26:191-201. [PMID: 38103590 DOI: 10.1016/j.jmoldx.2023.11.010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/20/2023] [Revised: 09/13/2023] [Accepted: 11/20/2023] [Indexed: 12/19/2023]  Open
10
Ongie L, Raj HA, Stevens KB. Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders. Curr Hematol Malig Rep 2023;18:273-283. [PMID: 37787873 DOI: 10.1007/s11899-023-00713-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/11/2023] [Indexed: 10/04/2023]
11
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N. Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders. Hepatology 2023;78:1777-1787. [PMID: 37184208 PMCID: PMC10733788 DOI: 10.1097/hep.0000000000000461] [Citation(s) in RCA: 7] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/17/2023] [Accepted: 04/28/2023] [Indexed: 05/16/2023]
12
Li J, Bledsoe JR. Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist. Semin Diagn Pathol 2023;40:429-442. [PMID: 37507252 DOI: 10.1053/j.semdp.2023.06.006] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/02/2023] [Accepted: 06/27/2023] [Indexed: 07/30/2023]
13
Gener-Ricos G, Gerstein YS, Hammond D, DiNardo CD. Germline Predisposition to Myelodysplastic Syndromes. Cancer J 2023;29:143-151. [PMID: 37195770 DOI: 10.1097/ppo.0000000000000660] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/18/2023]
14
Revy P, Kannengiesser C, Bertuch AA. Genetics of human telomere biology disorders. Nat Rev Genet 2023;24:86-108. [PMID: 36151328 DOI: 10.1038/s41576-022-00527-z] [Citation(s) in RCA: 68] [Impact Index Per Article: 34.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/11/2022] [Indexed: 01/24/2023]
15
Dyskeratosis congenita and telomere biology disorders. HEMATOLOGY. AMERICAN SOCIETY OF HEMATOLOGY. EDUCATION PROGRAM 2022;2022:637-648. [PMID: 36485133 PMCID: PMC9821046 DOI: 10.1182/hematology.2022000394] [Citation(s) in RCA: 26] [Impact Index Per Article: 8.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
16
Fiesco-Roa MÓ, García-de Teresa B, Leal-Anaya P, van ‘t Hek R, Wegman-Ostrosky T, Frías S, Rodríguez A. Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability. Front Oncol 2022;12:949435. [PMID: 36091172 PMCID: PMC9453478 DOI: 10.3389/fonc.2022.949435] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/20/2022] [Accepted: 08/01/2022] [Indexed: 11/13/2022]  Open
17
Dokal I, Tummala H, Vulliamy T. Inherited bone marrow failure in the pediatric patient. Blood 2022;140:556-570. [PMID: 35605178 PMCID: PMC9373017 DOI: 10.1182/blood.2020006481] [Citation(s) in RCA: 30] [Impact Index Per Article: 10.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/09/2020] [Accepted: 12/17/2020] [Indexed: 12/05/2022]  Open
18
Tummala H, Walne A, Dokal I. The biology and management of dyskeratosis congenita and related disorders of telomeres. Expert Rev Hematol 2022;15:685-696. [PMID: 35929966 DOI: 10.1080/17474086.2022.2108784] [Citation(s) in RCA: 46] [Impact Index Per Article: 15.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/23/2022] [Accepted: 07/29/2022] [Indexed: 11/04/2022]
19
Park M. Overview of inherited bone marrow failure syndromes. Blood Res 2022;57:49-54. [PMID: 35483926 PMCID: PMC9057667 DOI: 10.5045/br.2022.2022012] [Citation(s) in RCA: 19] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2022] [Revised: 02/27/2022] [Accepted: 03/14/2022] [Indexed: 01/02/2023]  Open
20
Vagher J, Gammon A, Kohlmann W, Jeter J. Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders. Front Oncol 2022;12:837059. [PMID: 35359366 PMCID: PMC8960432 DOI: 10.3389/fonc.2022.837059] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/16/2021] [Accepted: 02/17/2022] [Indexed: 11/17/2022]  Open
21
Are Dyskeratosis Congenita Patients at Higher Risk of Symptomatic COVID-19? Med Hypotheses 2022;163:110843. [PMID: 35464998 PMCID: PMC9011900 DOI: 10.1016/j.mehy.2022.110843] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2021] [Revised: 02/19/2022] [Accepted: 03/04/2022] [Indexed: 11/25/2022]
22
Telomere biology disorders: ends and (genetic) means. Blood 2022;139:1776-1777. [PMID: 35323880 DOI: 10.1182/blood.2021014855] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2021] [Accepted: 11/26/2021] [Indexed: 11/20/2022]  Open
23
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA. Disease progression and clinical outcomes in telomere biology disorders. Blood 2022;139:1807-1819. [PMID: 34852175 PMCID: PMC8952184 DOI: 10.1182/blood.2021013523] [Citation(s) in RCA: 46] [Impact Index Per Article: 15.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2021] [Accepted: 11/11/2021] [Indexed: 11/20/2022]  Open
24
Григорян ОР, Фролова ТМ, Михеев РК, Шереметьева ЕВ, Абсатарова ЮС, Ужегова ЖА, Андреева ЕН, Мокрышева НГ. [The dual role of the menopausal hormonal therapy as the enhancer of pleiotropic telomere rejuvenation and the silencer of cellular aging (literature review)]. PROBLEMY ENDOKRINOLOGII 2022;68:105-112. [PMID: 35841174 PMCID: PMC9762536 DOI: 10.14341/probl12895] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/25/2022] [Accepted: 03/21/2022] [Indexed: 06/15/2023]
25
Keel S. The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure. HEMATOLOGY. AMERICAN SOCIETY OF HEMATOLOGY. EDUCATION PROGRAM 2021;2021:134-142. [PMID: 34889426 PMCID: PMC8791137 DOI: 10.1182/hematology.2021000244] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/07/2023]
26
Tacheva T, Zienolddiny S, Dimov D, Vlaykova D, Vlaykova T. The leukocyte telomere length, single nucleotide polymorphisms near TERC gene and risk of COPD. PeerJ 2021;9:e12190. [PMID: 34824901 PMCID: PMC8590800 DOI: 10.7717/peerj.12190] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/19/2021] [Accepted: 08/30/2021] [Indexed: 12/12/2022]  Open
27
Shimano KA, Narla A, Rose MJ, Gloude NJ, Allen SW, Bergstrom K, Broglie L, Carella BA, Castillo P, Jong JLO, Dror Y, Geddis AE, Huang JN, Lau BW, McGuinn C, Nakano TA, Overholt K, Rothman JA, Sharathkumar A, Shereck E, Vlachos A, Olson TS, Bertuch AA, Wlodarski MW, Shimamura A, Boklan J. Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium. Am J Hematol 2021;96:1491-1504. [PMID: 34342889 DOI: 10.1002/ajh.26310] [Citation(s) in RCA: 19] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2021] [Revised: 07/26/2021] [Accepted: 07/27/2021] [Indexed: 12/19/2022]
28
Bhoopalan SV, Wlodarski M, Reiss U, Triplett B, Sharma A. Reduced-intensity conditioning-based hematopoietic cell transplantation for dyskeratosis congenita: Single-center experience and literature review. Pediatr Blood Cancer 2021;68:e29177. [PMID: 34086408 DOI: 10.1002/pbc.29177] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/18/2020] [Revised: 04/30/2021] [Accepted: 05/16/2021] [Indexed: 11/09/2022]
29
Roake CM, Juntilla M, Agarwal-Hashmi R, Artandi S, Kuo CS. Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita. HUMAN PATHOLOGY: CASE REPORTS 2021;25:200517. [PMID: 34522616 PMCID: PMC8437149 DOI: 10.1016/j.ehpc.2021.200517] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/02/2022]  Open
30
Luchkin AV, Mikhailova EA, Fidarova ZT, Troitskaya VV, Galtseva IV, Kovrigina AM, Glinkina SA, Dvirnyk VN, Raykina EV, Pavlova AV, Demina IA, Parovichnikova EN. A case report of familial dyskeratosis congenital. Case report. TERAPEVT ARKH 2021;93:818-825. [DOI: 10.26442/00403660.2021.07.200955] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/21/2021] [Accepted: 07/21/2021] [Indexed: 11/22/2022]
31
Miner AE, Graves JS. What telomeres teach us about MS. Mult Scler Relat Disord 2021;54:103084. [PMID: 34371369 DOI: 10.1016/j.msard.2021.103084] [Citation(s) in RCA: 12] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/08/2021] [Revised: 05/14/2021] [Accepted: 06/09/2021] [Indexed: 02/03/2023]
32
DNA-methylation-based telomere length estimator: comparisons with measurements from flow FISH and qPCR. Aging (Albany NY) 2021;13:14675-14686. [PMID: 34083495 PMCID: PMC8221337 DOI: 10.18632/aging.203126] [Citation(s) in RCA: 14] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2021] [Accepted: 05/14/2021] [Indexed: 12/18/2022]
33
Telomere biology disorders. NPJ Genom Med 2021;6:36. [PMID: 34050178 PMCID: PMC8163767 DOI: 10.1038/s41525-021-00198-5] [Citation(s) in RCA: 46] [Impact Index Per Article: 11.5] [Reference Citation Analysis] [Abstract] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/16/2021] [Accepted: 04/05/2021] [Indexed: 12/17/2022]  Open
34
Giri N, Alter BP, Savage SA, Stratton P. Gynaecological and reproductive health of women with telomere biology disorders. Br J Haematol 2021;193:1238-1246. [PMID: 34019708 DOI: 10.1111/bjh.17545] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2021] [Accepted: 04/18/2021] [Indexed: 12/19/2022]
35
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Adv 2021;4:4873-4886. [PMID: 33035329 DOI: 10.1182/bloodadvances.2020001721] [Citation(s) in RCA: 22] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2020] [Accepted: 08/11/2020] [Indexed: 12/15/2022]  Open
36
Arthur JW, Pickett HA, Barbaro PM, Kilo T, Vasireddy RS, Beilharz TH, Powell DR, Hackett EL, Bennetts B, Curtin JA, Jones K, Christodoulou J, Reddel RR, Teo J, Bryan TM. A novel cause of DKC1-related bone marrow failure: Partial deletion of the 3' untranslated region. EJHAEM 2021;2:157-166. [PMID: 35845273 PMCID: PMC9175968 DOI: 10.1002/jha2.165] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 08/22/2020] [Revised: 01/03/2021] [Accepted: 01/07/2021] [Indexed: 12/11/2022]
37
Scheinberg P. Acquired severe aplastic anaemia: how medical therapy evolved in the 20th and 21st centuries. Br J Haematol 2021;194:954-969. [PMID: 33855695 DOI: 10.1111/bjh.17403] [Citation(s) in RCA: 48] [Impact Index Per Article: 12.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2020] [Accepted: 02/16/2021] [Indexed: 11/28/2022]
38
Imran SAM, Yazid MD, Idrus RBH, Maarof M, Nordin A, Razali RA, Lokanathan Y. Is There an Interconnection between Epithelial-Mesenchymal Transition (EMT) and Telomere Shortening in Aging? Int J Mol Sci 2021;22:ijms22083888. [PMID: 33918710 PMCID: PMC8070110 DOI: 10.3390/ijms22083888] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/11/2021] [Revised: 04/07/2021] [Accepted: 04/07/2021] [Indexed: 12/12/2022]  Open
39
Ishitsuka Y, Hanaoka Y, Tanemura A, Fujimoto M. Cutaneous Squamous Cell Carcinoma in the Age of Immunotherapy. Cancers (Basel) 2021;13:1148. [PMID: 33800195 PMCID: PMC7962464 DOI: 10.3390/cancers13051148] [Citation(s) in RCA: 16] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2021] [Revised: 03/02/2021] [Accepted: 03/03/2021] [Indexed: 12/11/2022]  Open
40
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr 2021;230:55-61.e4. [PMID: 32971146 DOI: 10.1016/j.jpeds.2020.09.038] [Citation(s) in RCA: 15] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/21/2020] [Revised: 08/17/2020] [Accepted: 09/16/2020] [Indexed: 12/20/2022]
41
Gutierrez-Rodrigues F, Alves-Paiva RM, Scatena NF, Martinez EZ, Scheucher PS, Calado RT. Association between leukocyte telomere length and sex by quantile regression analysis. Hematol Transfus Cell Ther 2021;44:346-351. [PMID: 33593713 PMCID: PMC9477766 DOI: 10.1016/j.htct.2020.12.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/21/2020] [Revised: 11/20/2020] [Accepted: 12/03/2020] [Indexed: 12/02/2022]  Open
42
Henslee G, Williams CL, Liu P, Bertuch AA. Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length. Cold Spring Harb Mol Case Stud 2021;7:a005454. [PMID: 33446513 PMCID: PMC7903889 DOI: 10.1101/mcs.a005454] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/19/2020] [Accepted: 02/04/2021] [Indexed: 12/13/2022]  Open
43
Myllymäki M, Redd R, Reilly CR, Saber W, Spellman SR, Gibson CJ, Hu ZH, Wang T, Orr EH, Grenier JG, Chen MM, Steensma DP, Cutler C, De Vivo I, Antin JH, Neuberg D, Agarwal S, Lindsley RC. Short telomere length predicts nonrelapse mortality after stem cell transplantation for myelodysplastic syndrome. Blood 2020;136:3070-3081. [PMID: 33367544 PMCID: PMC7770569 DOI: 10.1182/blood.2020005397] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/18/2020] [Accepted: 07/30/2020] [Indexed: 12/31/2022]  Open
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Schratz KE. Extrahematopoietic manifestations of the short telomere syndromes. HEMATOLOGY. AMERICAN SOCIETY OF HEMATOLOGY. EDUCATION PROGRAM 2020;2020:115-122. [PMID: 33275732 PMCID: PMC7727508 DOI: 10.1182/hematology.2020000170] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/23/2023]
45
Schmutz I, Mensenkamp AR, Takai KK, Haadsma M, Spruijt L, de Voer RM, Choo SS, Lorbeer FK, van Grinsven EJ, Hockemeyer D, Jongmans MCJ, de Lange T. TINF2 is a haploinsufficient tumor suppressor that limits telomere length. eLife 2020;9:e61235. [PMID: 33258446 PMCID: PMC7707837 DOI: 10.7554/elife.61235] [Citation(s) in RCA: 39] [Impact Index Per Article: 7.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/20/2020] [Accepted: 11/11/2020] [Indexed: 12/20/2022]  Open
46
Alebrahim M, Akateh C, Arnold CA, Benissan-Messan D, Chavez JA, Singh N, Al-Adwan Y, El-Hinnawi A, Michaels A, Black SM. Liver Transplant for Management of Hepatic Complications of Dyskeratosis Congenita: A Case Report. EXP CLIN TRANSPLANT 2020;20:702-705. [PMID: 33272154 DOI: 10.6002/ect.2020.0073] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022]
47
Jahan D, Al Hasan MM, Haque M. Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. J Pharm Bioallied Sci 2020;12:163-170. [PMID: 32742115 PMCID: PMC7373105 DOI: 10.4103/jpbs.jpbs_234_19] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2019] [Revised: 02/20/2020] [Accepted: 02/21/2020] [Indexed: 11/04/2022]  Open
48
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A 2020;117:15137-15147. [PMID: 32554502 DOI: 10.1073/pnas.2002328117] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]  Open
49
Toufektchan E, Lejour V, Durand R, Giri N, Draskovic I, Bardot B, Laplante P, Jaber S, Alter BP, Londono-Vallejo JA, Savage SA, Toledo F. Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. SCIENCE ADVANCES 2020;6:eaay3511. [PMID: 32300648 PMCID: PMC7148086 DOI: 10.1126/sciadv.aay3511] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/11/2019] [Accepted: 01/16/2020] [Indexed: 05/08/2023]
50
Giri N, Ravichandran S, Wang Y, Gadalla SM, Alter BP, Fontana J, Savage SA. Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder. ERJ Open Res 2019;5:00209-2019. [PMID: 31754622 PMCID: PMC6856494 DOI: 10.1183/23120541.00209-2019] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/19/2019] [Accepted: 08/28/2019] [Indexed: 11/23/2022]  Open
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