The DOI matches its Crossref record; 26 of the 27 references it cites were found in a registry or an index.
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
Open accessAbstract
Mutations in the human telomerase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC). Because of the possibility that TERC mutations might underlie seemingly acquired forms of bone marrow failure, we examined blood samples from a large number of patients with aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplasia (MDS). Only 3 of 210 cases showed heterozygous TERC mutations: both nucleotide 305 (n305) (G>A) and n322 (G>A) were within the conserved region (CR) 4–CR5 domain; n450 (G>A) was localized to the boxH/ACA domain. However, only one patient (with a mutation at n305 [G>A]) had clinical characteristics suggesting DKC; her blood cells contained short telomeres and her sister also suffered from bone marrow failure. Another 21 patients with short telomeres did not show TERC mutations. Our results suggest that cryptic DKC, at least secondary to mutations in the TERC gene, is an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Around 9% of patients with acquired aplastic anaemia carry mutations in the telomerase components TERC, TERT and DKC1, which are also mutated in inherited aplastic anaemia, as in dyskeratosis congenita74,75.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [74]
Experimental — accuracy not yet measuredIn the citing paper
“In addition, 3–5% of aplastic anaemia patients carry mutant TERT and TR genes41,72,73.”
From The telomere syndromes (2012) · cites this paper as [73]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Hematology: Basic Principles and Practice
(1991) · Annals of Internal Medicine · doi:10.7326/0003-4819-115-3-238_2 · Cited by 1,862
A telomerase component is defective in the human disease dyskeratosis congenita
Mitchell, J. R., Wood, E., & Collins, K. (1999) · Nature · doi:10.1038/990141 · Cited by 1,168
Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics · doi:10.1038/ng0598-32 · Cited by 976
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I. (2001) · Nature · doi:10.1038/35096585 · Cited by 960
Variation is the spice of life
Kruglyak, L., & Nickerson, D. A. (2001) · Nature Genetics · doi:10.1038/85776 · Cited by 927
Human Telomerase and Its Regulation
Cong, Y.-S., Wright, W. E., & Shay, J. W. (2002) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.66.3.407-425.2002 · Cited by 898
Hematology of Infancy and Childhood.
(1975) · Annals of Internal Medicine · doi:10.7326/0003-4819-83-4-587_2 · Cited by 893
Secondary Structure of Vertebrate Telomerase RNA
Chen, J.-L., Blasco, M. A., & Greider, C. W. (2000) · Cell · doi:10.1016/s0092-8674(00)80687-x · Cited by 605
Dyskeratosis congenita in all its forms
Dokal, I. (2000) · British Journal of Haematology · doi:10.1046/j.1365-2141.2000.02109.x · Cited by 575
Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry
Rufer, N., Dragowska, W. H., Thornbury, G., Roosnek, E. E., & Lansdorp, P. M. (1998) · Nature Biotechnology · doi:10.1038/nbt0898-743 · Cited by 551
Self-citation
Research works printed but not linked: 1
- Kawar NM, Ivanovich J, Rothbaum RJ, et al. Human telomerase RNA mutation in patients with bone marrow failure [abstract]. Blood. 2002;100: 232a.
Cited by
Sorted by citations
Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
Armanios, M. Y., Chen, J. J.-L., Cogan, J. D., Alder, J. K., Ingersoll, R. G., Markin, C., Lawson, W. E., Xie, M., Vulto, I., Phillips, J. A., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa066157 · Cited by 1,357
Self-citationAubert, G., & Lansdorp, P. M. (2008) · Physiological Reviews · doi:10.1152/physrev.00026.2007 · Cited by 1,188
Self-citationArmanios, M., & Blackburn, E. H. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3246 · Cited by 982
Current concepts in the pathophysiology and treatment of aplastic anemia
Young, N. S., Calado, R. T., & Scheinberg, P. (2006) · Blood · doi:10.1182/blood-2006-03-010777 · Cited by 888
Self-citationShort telomeres are a risk factor for idiopathic pulmonary fibrosis
Alder, J. K., Chen, J. J.-L., Lancaster, L., Danoff, S., Su, S.-C., Cogan, J. D., Vulto, I., Xie, M., Qi, X., Tuder, R. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804280105 · Cited by 805
Self-citationRegulation of Telomerase by Telomeric Proteins
Smogorzewska, A., & de Lange, T. (2004) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.73.071403.160049 · Cited by 813
Calado, R. T., & Young, N. S. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0903373 · Cited by 814
Self-citationTelomere dysfunction in ageing and age-related diseases
Rossiello, F., Jurk, D., Passos, J. F., & d’Adda di Fagagna, F. (2022) · Nature Cell Biology · doi:10.1038/s41556-022-00842-x · Cited by 754
Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
Yamaguchi, H., Calado, R. T., Ly, H., Kajigaya, S., Baerlocher, G. M., Chanock, S. J., Lansdorp, P. M., & Young, N. S. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa042980 · Cited by 723
Self-citationThe genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia
Sperling, A. S., Gibson, C. J., & Ebert, B. L. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.112 · Cited by 706
Pathophysiology and management of inherited bone marrow failure syndromes
Shimamura, A., & Alter, B. P. (2010) · Blood Reviews · doi:10.1016/j.blre.2010.03.002 · Cited by 570
Armanios, M., Chen, J.-L., Chang, Y.-P. C., Brodsky, R. A., Hawkins, A., Griffin, C. A., Eshleman, J. R., Cohen, A. R., Chakravarti, A., Hamosh, A., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508124102 · Cited by 452
Savage, S. A., Giri, N., Baerlocher, G. M., Orr, N., Lansdorp, P. M., & Alter, B. P. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.004 · Cited by 414
Self-citationCalado, R. T., Yewdell, W. T., Wilkerson, K. L., Regal, J. A., Kajigaya, S., Stratakis, C. A., & Young, N. S. (2009) · Blood · doi:10.1182/blood-2008-09-178871 · Cited by 373
Self-citationTelomeres and age-related disease: how telomere biology informs clinical paradigms
Armanios, M. Y. (2013) · Journal of Clinical Investigation · doi:10.1172/jci66370 · Cited by 352
Vulliamy, T., Marrone, A., Knight, S. W., Walne, A. J., Mason, P. J., & Dokal, I. S. (2005) · Blood · doi:10.1182/blood-2005-07-2622 · Cited by 347
Syndromes of Telomere Shortening
Armanios, M. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082908-150046 · Cited by 317
Walne, A. J., Vulliamy, T., Beswick, R., Kirwan, M., & Dokal, I. (2008) · Blood · doi:10.1182/blood-2008-05-153445 · Cited by 317
Short Telomeres, even in the Presence of Telomerase, Limit Tissue Renewal Capacity
Hao, L.-Y., Armanios, M., Strong, M. A., Karim, B., Feldser, D. M., Huso, D., & Greider, C. W. (2005) · Cell · doi:10.1016/j.cell.2005.11.020 · Cited by 302
Bone marrow failure and the telomeropathies
Townsley, D. M., Dumitriu, B., & Young, N. S. (2014) · Blood · doi:10.1182/blood-2014-05-526285 · Cited by 297
Self-citationFogarty, P. F., Yamaguchi, H., Wiestner, A., Baerlocher, G. M., Sloand, E., Zeng, W. S., Read, E. J., Lansdorp, P. M., & Young, N. S. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14797-6 · Cited by 277
Self-citationBrodsky, R. A., & Jones, R. J. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66515-4 · Cited by 275
Dokal, I. S. (2011) · Hematology · doi:10.1182/asheducation-2011.1.480 · Cited by 282
G‐quadruplex nucleic acids and human disease
Wu, Y., & Brosh, R. M. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2010.07760.x · Cited by 265
Savage, S. A., & Alter, B. P. (2009) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2009.01.003 · Cited by 262
The genetics and clinical manifestations of telomere biology disorders
Savage, S. A., & Bertuch, A. A. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f415b5 · Cited by 265
Aubert, G., Baerlocher, G. M., Vulto, I. M., Poon, S. S. S., & Lansdorp, P. M. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002696 · Cited by 262
Self-citationA Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations
Calado, R. T., Regal, J. A., Kleiner, D. E., Schrump, D. S., Peterson, N. R., Pons, V., Chanock, S. J., Lansdorp, P. M., & Young, N. S. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007926 · Cited by 258
Self-citationTelomerase and idiopathic pulmonary fibrosis
Armanios, M. (2012) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2011.10.013 · Cited by 245
Dyskeratosis congenita: a genetic disorder of many faces
Kirwan, M., & Dokal, I. S. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00923.x · Cited by 242
Telomere maintenance and human bone marrow failure
Calado, R. T., & Young, N. S. (2008) · Blood · doi:10.1182/blood-2007-08-019729 · Cited by 227
Self-citationVulliamy, T., Walne, A. J., Baskaradas, A., Mason, P. J., Marrone, A., & Dokal, I. S. (2005) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2004.12.008 · Cited by 212
Current concepts in the pathophysiology and treatment of aplastic anemia
Young, N. S. (2013) · Hematology · doi:10.1182/asheducation-2013.1.76 · Cited by 199
Self-citationTelomere shortening in human diseases
Kong, C. M., Lee, X. W., & Wang, X. (2013) · The FEBS Journal · doi:10.1111/febs.12326 · Cited by 194
Parry, E. M., Alder, J. K., Qi, X., Chen, J. J.-L., & Armanios, M. (2011) · Blood · doi:10.1182/blood-2010-11-322149 · Cited by 194
Poly(A)-specific ribonuclease (PARN) mediates 3′-end maturation of the telomerase RNA component
Moon, D. H., Segal, M., Boyraz, B., Guinan, E. C., Hofmann, I., Cahan, P., Tai, A., & Agarwal, S. (2015) · Nature Genetics · doi:10.1038/ng.3423 · Cited by 192
Dyskeratosis congenita, stem cells and telomeres
Kirwan, M., & Dokal, I. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2009.01.010 · Cited by 180
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
Chen, D.-H., Below, J. E., Shimamura, A., Keel, S., Matsushita, M. M., Wolff, J., Sul, Y., Bonkowski, E. S., Castellà, M., Taniguchi, T., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.04.009 · Cited by 178
Marrone, A., Walne, A. J., Tamary, H., Masunari, Y., Kirwan, M., Beswick, R. W., Vulliamy, T., & Dokal, I. S. (2007) · Blood · doi:10.1182/blood-2006-12-062851 · Cited by 181
How Ribosomes Translate Cancer
Sulima, S. O., Hofman, I. J., Keersmaecker, K. D., & Dinman, J. D. (2017) · Cancer Discovery · doi:10.1158/2159-8290.cd-17-0550 · Cited by 185
Advances in the understanding of dyskeratosis congenita
Walne, A. J., & Dokal, I. S. (2009) · British Journal of Haematology · doi:10.1111/j.1365-2141.2009.07598.x · Cited by 179
DNA Repair Defects in Stem Cell Function and Aging
Park, Y., & Gerson, S. L. (2004) · Annual Review of Medicine · doi:10.1146/annurev.med.56.082103.104546 · Cited by 172
The genetics of dyskeratosis congenita
Mason, P. J., & Bessler, M. (2011) · Cancer Genetics · doi:10.1016/j.cancergen.2011.11.002 · Cited by 167
Du, H.-Y., Pumbo, E., Ivanovich, J., An, P., Maziarz, R. T., Reiss, U. M., Chirnomas, D., Shimamura, A., Vlachos, A., Lipton, J. M., et al. (2009) · Blood · doi:10.1182/blood-2008-07-166421 · Cited by 158
Keel, S., Scott, A., Sánchez-Bonilla, M., Ho, P. A., Gülsüner, S., Pritchard, C. C., Abkowitz, J. L., King, M., Walsh, T., & Shimamura, A. (2016) · Haematologica · doi:10.3324/haematol.2016.149476 · Cited by 157
Human diseases of telomerase dysfunction: insights into tissue aging
Garcia, C. K., Wright, W. E., & Shay, J. W. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm644 · Cited by 161
Architecture of human telomerase RNA
Zhang, Q., Kim, N.-K., & Feigon, J. F. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1100279108 · Cited by 162
Telomerase RNA structure and function: implications for dyskeratosis congenita
Chen, J.-L., & Greider, C. W. (2004) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2004.02.003 · Cited by 147
Niemeyer, C. M., & Kratz, C. P. (2008) · British Journal of Haematology · doi:10.1111/j.1365-2141.2007.06958.x · Cited by 148
Familial myelodysplastic syndromes: a review of the literature
Liew, E., & Owen, C. (2011) · Haematologica · doi:10.3324/haematol.2011.043422 · Cited by 149
It all comes together at the ends: Telomerase structure, function, and biogenesis
Podlevsky, J. D., & Chen, J. J. ‐. (2011) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2011.11.002 · Cited by 152
Telomere dysfunction, autoimmunity and aging.
(2011) · Europe PMC (PubMed Central) · Cited by 138
Strong, M. A., Vidal-Cardenas, S. L., Karim, B. O., Yu, H. M., Guo, N., & Greider, C. W. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.05312-11 · Cited by 136
Beginning at the ends: telomeres and human disease
Savage, S. A. (2018) · F1000Research · doi:10.12688/f1000research.14068.1 · Cited by 124
Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex
Vulliamy, T., & Dokal, I. S. (2007) · Biochimie · doi:10.1016/j.biochi.2007.07.017 · Cited by 131
Marrone, A., Stevens, D., Vulliamy, T., Dokal, I. S., & Mason, P. J. (2004) · Blood · doi:10.1182/blood-2004-05-1829 · Cited by 126
The short and long telomere syndromes: paired paradigms for molecular medicine
Stanley, S. E., & Armanios, M. Y. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.06.004 · Cited by 125
Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
Jongmans, M. C. J., Verwiel, E. T. P., Heijdra, Y. F., Vulliamy, T., Kamping, E. J., Hehir‐Kwa, J. Y., Bongers, E. M. H. F., Pfundt, R., van Emst, L., van Leeuwen, F. N., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.01.004 · Cited by 124
Classification of Childhood Aplastic Anemia and Myelodysplastic Syndrome
Niemeyer, C. M., & Baumann, I. (2011) · Hematology · doi:10.1182/asheducation-2011.1.84 · Cited by 122
Zhang, M., Keel, S., Walsh, T., Lee, M. K., Gülsüner, S., Watts, A. C., Pritchard, C. C., Salipante, S. J., Jeng, M., Hofmann, I., et al. (2014) · Haematologica · doi:10.3324/haematol.2014.113456 · Cited by 122
Dyskeratosis congenita: telomerase, telomeres and anticipation
Marrone, A., Walne, A. J., & Dokal, I. S. (2005) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2005.04.004 · Cited by 124
Vulliamy, T., & Dokal, I. S. (2006) · Seminars in Hematology · doi:10.1053/j.seminhematol.2006.04.001 · Cited by 122
De La Fuente, J., & Dokal, I. (2007) · Pediatric Transplantation · doi:10.1111/j.1399-3046.2007.00721.x · Cited by 119
Variation at theTERTlocus and predisposition for cancer
Baird, D. M. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s146239941000147x · Cited by 117
Engineered telomere degradation models dyskeratosis congenitaPreprint
Hockemeyer, D. F., Palm, W., Wang, R. C., Couto, S. S., & de Lange, T. (2008) · Genes & Development · doi:10.1101/gad.1679208 · Cited by 117
The genomics of inherited bone marrow failure: from mechanism to the clinic
Wegman-Ostrosky, T., & Savage, S. A. (2017) · British Journal of Haematology · doi:10.1111/bjh.14535 · Cited by 114
Inherited aplastic anaemias/bone marrow failure syndromes
Dokal, I. S., & Vulliamy, T. (2008) · Blood Reviews · doi:10.1016/j.blre.2007.11.003 · Cited by 110
Kirwan, M., Vulliamy, T., Marrone, A., Walne, A. J., Beswick, R., Hillmen, P., Kelly, R., Stewart, A., Bowen, D., Schonland, S. O., et al. (2009) · Human Mutation · doi:10.1002/humu.21115 · Cited by 109
The role of telomeres in the ageing of human skin: Telomeres and skin ageing
Buckingham, E. M., & Klingelhutz, A. J. (2011) · Experimental Dermatology · doi:10.1111/j.1600-0625.2010.01242.x · Cited by 109
Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts
Shallis, R. M., Ahmad, R., & Zeidan, A. M. (2018) · European Journal Of Haematology · doi:10.1111/ejh.13153 · Cited by 111
Lansdorp, P. M. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.172 · Cited by 109
Self-citationClinical outcomes of lung transplant recipients with telomerase mutations
Tokman, S., Singer, J. P., Devine, M., Westall, G. P., Aubert, J., Tamm, M., Snell, G. I., Lee, J. S., Goldberg, H. J., Kukreja, J., et al. (2015) · The Journal of Heart and Lung Transplantation · doi:10.1016/j.healun.2015.05.002 · Cited by 107
Molecular mechanisms of telomere biology disorders
Grill, S., & Nandakumar, J. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.rev120.014017 · Cited by 114
Inherited Predisposition to Acute Myeloid Leukemia
Godley, L. A. (2014) · Seminars in Hematology · doi:10.1053/j.seminhematol.2014.08.001 · Cited by 105
Xin, Z.-T., Beauchamp, A. D., Calado, R. T., Bradford, J. W., Regal, J. A., Shenoy, A. G., Liang, Y., Lansdorp, P. M., Young, N. S., & Ly, H. (2006) · Blood · doi:10.1182/blood-2006-07-035089 · Cited by 104
Self-citationVulliamy, T., Kirwan, M. J., Beswick, R. W., Hossain, U., Baqai, C., Ratcliffe, A., Marsh, J. C. W., Walne, A. J., & Dokal, I. S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0024383 · Cited by 105
He, H., Wang, Y., Guo, X., Ramchandani, S., Ma, J., Shen, M., Garcia, D. A., Deng, Y., Multani, A. S., You, M. J., et al. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01400-08 · Cited by 103
Non-canonical Roles of Telomerase: Unraveling the Imbroglio
Ségal-Bendirdjian, E., & Géli, V. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00332 · Cited by 106
The Pathophysiology of Acquired Aplastic Anemia
Schoettler, M. L., & Nathan, D. G. (2018) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2018.03.001 · Cited by 101
The biological function and clinical significance of SF3B1 mutations in cancer
Zhou, Z., Gong, Q., Wang, Y., Li, M., Wang, L., Ding, H., & Li, P. (2020) · Biomarker Research · doi:10.1186/s40364-020-00220-5 · Cited by 109
Telomeres, stem cells, and hematology
Lansdorp, P. M. (2008) · Blood · doi:10.1182/blood-2007-09-084913 · Cited by 97
Self-citationBrümmendorf, T. H., & Balabanov, S. (2006) · Leukemia · doi:10.1038/sj.leu.2404339 · Cited by 95
An update on the management of severe idiopathic aplastic anaemia in children
DAVIES, J. K., & Guinan, E. C. (2007) · British Journal of Haematology · doi:10.1111/j.1365-2141.2006.06461.x · Cited by 92
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy
Gramatges, M. M., & Bertuch, A. A. (2013) · Translational research · doi:10.1016/j.trsl.2013.05.003 · Cited by 90
Telomere length: lights and shadows on their role in human reproduction
Rocca, M. S., Foresta, C., & Ferlin, A. (2018) · Biology of Reproduction · doi:10.1093/biolre/ioy208 · Cited by 95
Savage, S. A., & Dufour, C. (2017) · Seminars in Hematology · doi:10.1053/j.seminhematol.2017.04.004 · Cited by 88
Functional characterization of telomerase RNA variants found in patients with hematologic disorders
Ly, H., Calado, R. T., Allard, P., Baerlocher, G. M., Lansdorp, P. M., Young, N. S., & Parslow, T. G. (2004) · Blood · doi:10.1182/blood-2004-09-3659 · Cited by 84
Self-citationAn Activity Switch in Human Telomerase Based on RNA Conformation and Shaped by TCAB1
Chen, L., Roake, C. M., Freund, A., Batista, P. J., Tian, S., Yin, Y. A., Gajera, C. R., Lin, S., Lee, B., Pech, M. F., et al. (2018) · Cell · doi:10.1016/j.cell.2018.04.039 · Cited by 83
Management of suspected monogenic lung fibrosis in a specialised centre
Borie, R., Kannengiesser, C., de Fontbrune, F. S., Gouya, L., Nathan, N., & Crestani, B. (2017) · European Respiratory Review · doi:10.1183/16000617.0122-2016 · Cited by 84
Dyskeratosis Congenita: A historical perspective
Walne, A. J., & Dokal, I. S. (2007) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2007.10.006 · Cited by 81
Robart, A. R., & Collins, K. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.088575 · Cited by 80
The role of telomere biology in bone marrow failure and other disorders
Savage, S. A., & Alter, B. P. (2007) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2007.11.002 · Cited by 75
Myelodysplastic Syndrome in Children and Adolescents
Niemeyer, C. M., & Baumann, I. (2008) · Seminars in Hematology · doi:10.1053/j.seminhematol.2007.10.006 · Cited by 76
Human Telomeres and Telomere Biology Disorders
Savage, S. A. (2014) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-397898-1.00002-5 · Cited by 78
Telomeres, telomerase, and hematopoietic stem cell biology
Greenwood, M. J., & Lansdorp, P. M. (2003) · Archives of Medical Research · doi:10.1016/j.arcmed.2003.07.003 · Cited by 79
Self-citationThe biology and management of dyskeratosis congenita and related disorders of telomeres
Tummala, H., Walne, A. J., & Dokal, I. S. (2022) · Expert Review of Hematology · doi:10.1080/17474086.2022.2108784 · Cited by 71
Visconte, V., Tiu, R. V., & Rogers, H. J. (2014) · Blood Research · doi:10.5045/br.2014.49.4.216 · Cited by 73
Dyskeratosis congenita: The first NIH clinical research workshop
Savage, S. A., Dokal, I. S., Armanios, M. Y., Aubert, G., Cowen, E. W., Domingo, D. L., Giri, N., Greene, M. H., Orchard, P. J., Tolar, J., et al. (2009) · Pediatric Blood & Cancer · doi:10.1002/pbc.22061 · Cited by 69
Self-citationKozlitina, J., & Garcia, C. K. (2012) · PLoS ONE · doi:10.1371/journal.pone.0051046 · Cited by 69
Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts
Westin, E. R., Chavez, E. A., Lee, K. M., Gourronc, F. A., Riley, S., Lansdorp, P. M., Goldman, F. D., & Klingelhutz, A. J. (2007) · Aging Cell · doi:10.1111/j.1474-9726.2007.00288.x · Cited by 68
Self-citation
Metadata
- Authors
- Yamaguchi, H., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., Nunez, O., Sloand, E., & Young, N. S.
- Affiliations
- National Institutes of Health (US)
- From the Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD; Terry Fox Laboratory, BC Cancer Research Center, Vancouver; Department of Medicine, University of British Columbia, Vancouver, Canada; and the Section on Genomic Variation, Pediatric Oncology Branch, National Cancer Institutes, Advanced Technology Center, Gaithersburg, MD
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2003-08-01
- Volume
- 102
- Issue
- 3
- Pages
- 916-918
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2085418826
- Cited by
- 301
- References
- 27
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 7 · 2023: 11 · 2022: 5 · 2021: 4 · 2020: 13 · 2019: 9 · 2018: 16 · 2017: 19 · 2016: 12 · 2015: 14 · 2014: 19 · 2013: 13 · 2012: 14
- FWCI
- 9.27
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Keywords
- telomerase RNA, TERC mutations, aplastic anemia, myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria, dyskeratosis congenita, bone marrow failure, short telomeres, heterozygous mutation
- MeSH terms
- Anemia, Aplastic, Hemoglobinuria, Paroxysmal, Heterozygote, Humans, Mutation, Myelodysplastic Syndromes, RNA, Case-Control Studies, Telomerase, Dyskeratosis Congenita, Polymorphism, Single Nucleotide
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review