The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Abstract
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy. X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is due to mutations in the gene DKC1 in band 2, sub-band 8 of the long arm of the X chromosome (ref. 3). The affected protein, dyskerin, is a nucleolar protein that is found associated with the H/ACA class of small nucleolar RNAs and is involved in pseudo-uridylation of specific residues of ribosomal RNA. Dyskerin is also associated with telomerase RNA (hTR), which contains a H/ACA consensus sequence. Here we map the gene responsible for dyskeratosis congenita in a large pedigree with autosomal dominant inheritance. Affected members of this family have an 821-base-pair deletion on chromosome 3q that removes the 3' 74 bases of hTR. Mutations in hTR were found in two other families with autosomal dominant dyskeratosis congenita.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
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?
In the citing paper
“Indeed, defects in telomerase activity due to germ-line mutations in core telomerase components are linked to the premature loss of tissue renewal and premature death, such as dyskeratosis congenita,9 aplastic anemia10 and idiopathic pulmonary fibrosis.11”
From TERT activation targets DNA methylation and multiple aging hallmarks (2024) · cites this paper as [9]
In the citing paper
“Insufficient telomerase activity, stemming from low telomerase reverse transcriptase (TERT) gene transcription, contributes to telomere dysfunction and aging pathologies.”
From TERT activation targets DNA methylation and multiple aging hallmarks (2024) · cites this paper as [9]
In the citing paper
“They manifest in an autosomal-dominant inheritance pattern because complete or partial loss-of-function of one allele is sufficient to perturb telomere maintenance38,39,41.”
From The telomere syndromes (2012) · cites this paper as [38]
In the citing paper
“Eight mutant genes have been identified in dyskeratosis congenita9,38,39,60–64, and all of them encode telomerase or telomere protein components (summarized in Table 1).”
From The telomere syndromes (2012) · cites this paper as [38]
In the citing paper
“Dyskeratosis congenita is characterized by the short telomere defect11,38,55.”
From The telomere syndromes (2012) · cites this paper as [38]
In the citing paper
“Multiple different mutations in TERC have been described for patients with DKC (10).”
From Adult-onset pulmonary fibrosis caused by mutations in telomerase (2007) · cites this paper as [10]
In the citing paper
“The individuals with TERT or TERC mutations have none of the physical manifestations of DKC and were all ascertained by the lung fibrosis phenotype, distinguishing them from previously described patients with mutations in these genes (6, 9, 10, 17).”
From Adult-onset pulmonary fibrosis caused by mutations in telomerase (2007) · cites this paper as [10]
Citations
Cites
Molecular Cloning: A Laboratory Manual
Sambrook, J., Fritsch, E., & Maniatis, T. (1989) · UCLA - Biblioteca de Ciencias de la Salud · Cited by 133,589
Molecular cloning: A laboratory manual
Deininger, P. L. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90595-z · Cited by 84,684
Telomerase Catalytic Subunit Homologs from Fission Yeast and Human
Nakamura, T. M., Morin, G. B., Chapman, K. B., Weinrich, S. L., Andrews, W. H., Lingner, J., Harley, C. B., & Cech, T. R. (1997) · Science · doi:10.1126/science.277.5328.955 · Cited by 2,256
The RNA Component of Human Telomerase
Feng, J., Funk, W. D., Wang, S.-S., Weinrich, S. L., Avilion, A. A., Chiu, C.-P., Adams, R. R., Chang, E., Allsopp, R. C., Yu, J., et al. (1995) · Science · doi:10.1126/science.7544491 · Cited by 2,227
Telomere Shortening and Tumor Formation by Mouse Cells Lacking Telomerase RNA
Blasco, M. A., Lee, H.-W., Hande, M. P., Samper, E., Lansdorp, P. M., DePinho, R. A., & Greider, C. W. (1997) · Cell · doi:10.1016/s0092-8674(01)80006-4 · Cited by 2,108
Longevity, Stress Response, and Cancer in Aging Telomerase-Deficient Mice
Rudolph, K. L., Chang, S., Lee, H.-W., Blasco, M., Gottlieb, G. J., Greider, C., & DePinho, R. A. (1999) · Cell · doi:10.1016/s0092-8674(00)80580-2 · Cited by 1,349 · cited 1×
“Such mice showed no significant abnormalities in early generations, but later generations showed a variety of defects including reduced proliferative capacity of haematopoietic cells in the bone marrow and splee”
BackgroundEssential role of mouse telomerase in highly proliferative organs
Lee, H.-W., Blasco, M. A., Gottlieb, G. J., Horner, J. W., Greider, C. W., & DePinho, R. A. (1998) · Nature · doi:10.1038/33345 · Cited by 1,270 · cited 1×
“Such mice showed no significant abnormalities in early generations, but later generations showed a variety of defects including reduced proliferative capacity of haematopoietic cells in the bone marrow and splee”
BackgroundA 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
Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice
Artandi, S. E., Chang, S., Lee, S.-L., Alson, S., Gottlieb, G. J., Chin, L., & DePinho, R. A. (2000) · Nature · doi:10.1038/35020592 · Cited by 1,085
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
Self-citation
Cited by
Sorted by citations
Items 101–200 of 958
A 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
Telomerase at the intersection of cancer and aging
Bernardes de Jesus, B., & Blasco, M. A. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.06.007 · Cited by 227
Sharpless, N. E., & DePinho, R. A. (2002) · Cell · doi:10.1016/s0092-8674(02)00818-8 · Cited by 249
Telomerase 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
Self-citationTelomere Biology and Cardiovascular Disease
Fuster, J. J., & Andrés, V. (2006) · Circulation Research · doi:10.1161/01.res.0000251281.00845.18 · Cited by 239
Genetics of human telomere biology disorders
Revy, P., Kannengiesser, C., & Bertuch, A. A. (2022) · Nature Reviews Genetics · doi:10.1038/s41576-022-00527-z · Cited by 250
Podlevsky, J. D., Bley, C. J., Omana, R. V., Qi, X., & Chen, J. J. ‐. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm700 · Cited by 244
Young, N. S., Scheinberg, P., & Calado, R. T. (2008) · Current Opinion in Hematology · doi:10.1097/moh.0b013e3282fa7470 · Cited by 224
Verfaillie, C. M., Pera, M. F., & Lansdorp, P. M. (2002) · Hematology · doi:10.1182/asheducation-2002.1.369 · Cited by 223
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
The Rate of Increase of Short Telomeres Predicts Longevity in Mammals
Vera, E., de Jesus, B. B., Foronda, M., Flores, J. M., & Blasco, M. A. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.08.023 · Cited by 228
Uncovering the assembly pathway of human ribosomes and its emerging links to disease
Bohnsack, K. E., & Bohnsack, M. T. (2019) · The EMBO Journal · doi:10.15252/embj.2018100278 · Cited by 218
Ballew, B. J., & Savage, S. A. (2013) · Expert Review of Hematology · doi:10.1586/ehm.13.23 · Cited by 214
Hallmarks of telomeres in ageing research
Shay, J., & Wright, W. E. (2007) · The Journal of Pathology · doi:10.1002/path.2090 · Cited by 211
Vulliamy, 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
Self-citationStanley, S. E., Gable, D. L., Wagner, C. L., Carlile, T. M., Hanumanthu, V. S., Podlevsky, J. D., Khalil, S. E., Dezern, A. E., Rojas-Durán, M. F., Applegate, C. D., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf7837 · Cited by 214
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenitaPreprint
Wong, J. M. Y., & Collins, K. (2006) · Genes & Development · doi:10.1101/gad.1476206 · Cited by 208
Telomeres and human aging: facts and fibs
Aviv, A. (2004) · Science of Aging Knowledge Environment · doi:10.1126/sageke.2004.51.pe43 · Cited by 198
Harley, C. B. (2002) · Oncogene · doi:10.1038/sj.onc.1205076 · 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
Li, S., Rosenberg, J. E., Donjacour, A. A., Botchkina, I. L., Hom, Y. K., Cunha, G. R., & Blackburn, E. H. (2004) · Cancer Research · doi:10.1158/0008-5472.can-04-0953 · Cited by 193
Towards a new classification of ectodermal dysplasias: Classification of EDs
Lamartine, J. (2003) · Clinical and Experimental Dermatology · doi:10.1046/j.1365-2230.2003.01319.x · Cited by 191
Structure and function of telomerase RNA
Theimer, C. A., & Feigon, J. F. (2006) · Current Opinion in Structural Biology · doi:10.1016/j.sbi.2006.05.005 · Cited by 188
Telomeres in cancer and ageing
Donate, L. E., & Blasco, M. A. (2010) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2010.0291 · Cited by 199
Mochizuki, Y., He, J. L., Kulkarni, S., Bessler, M., & Mason, P. J. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402560101 · Cited by 195
Self-citationConstitutional telomerase mutations are genetic risk factors for cirrhosis
Calado, R. T., Brudno, J. N., Chaudhry, P. M., Kovacs, J. J., Wu, C. O., Zago, M. A., Chanock, S. J., BOYER, T. D., & Young, N. S. (2011) · Hepatology · doi:10.1002/hep.24173 · Cited by 195
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia
Calado, R. T., Regal, J. A., Hills, M., Yewdell, W. T., Dalmazzo, L. F., Zago, M. A., Lansdorp, P. M., Hogge, D., Chanock, S. J., Estey, E. H., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0807057106 · Cited by 184
InTERTpreting telomerase structure and function
Wyatt, H. D. M., West, S. C., & Beattie, T. L. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq370 · Cited by 190
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
Distinct Biogenesis Pathways for Human Telomerase RNA and H/ACA Small Nucleolar RNAs
Fu, D., & Collins, K. (2003) · Molecular Cell · doi:10.1016/s1097-2765(03)00196-5 · Cited by 188
Ageing, telomeres, senescence, and liver injury
Hoare, M., Das, T., & Alexander, G. (2010) · Journal of Hepatology · doi:10.1016/j.jhep.2010.06.009 · Cited by 184
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
Self-citationMarrone, 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
Self-citationNiewisch, M. R., & Savage, S. A. (2019) · Expert Review of Hematology · doi:10.1080/17474086.2019.1662720 · Cited by 189
Telomeropathies: An emerging spectrum disorder
Holohan, B., Wright, W. E., & Shay, J. W. (2014) · Journal of Cell Biology · doi:10.1083/jcb.201401012 · Cited by 175
Inherited bone marrow failure syndromes
Dokal, I. S., & Vulliamy, T. (2010) · Haematologica · doi:10.3324/haematol.2010.025619 · Cited by 179
Self-citationAdvances 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
Self-citationTelomerase gene mutations are associated with cirrhosis formation
Hartmann, D., Srivastava, U., Thaler, M., Kleinhans, K. N., N'Kontchou, G., Scheffold, A., Bauer, K., Kratzer, R. F., Kloos, N., Katz, S.-F., et al. (2011) · Hepatology · doi:10.1002/hep.24217 · Cited by 173
Telomerase insufficiency in rheumatoid arthritis
Fujii, H., Shao, L., Colmegna, I., Goronzy, J. J., & Weyand, C. M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811332106 · Cited by 172
Telomere Attrition Due to Infection
Ilmonen, P., Kotrschal, A., & Penn, D. J. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002143 · Cited by 174
Theimer, C. A., Finger, L. D., Trantı́rek, L., & Feigon, J. F. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.242720799 · Cited by 168
Stop pulling my strings — what telomeres taught us about the DNA damage response
Denchi, E. L., & Sfeir, A. J. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2016.43 · Cited by 177
The mammalian transcriptome and the function of non-coding DNA sequences.
Shabalina, S. A., & Spiridonov, N. A. (2004) · Genome biology · doi:10.1186/gb-2004-5-4-105 · Cited by 178
The molecular genetics of the telomere biology disorders
Bertuch, A. A. (2015) · RNA Biology · doi:10.1080/15476286.2015.1094596 · Cited by 173
Barkauskas, C. E., & Noble, P. W. (2014) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00321.2013 · Cited by 168
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 disparity between human cell senescence in vitro and lifelong replication in vivo
Rubin, H. (2002) · Nature Biotechnology · doi:10.1038/nbt0702-675 · Cited by 171
Role of shelterin in cancer and aging
Martínez, P., & Blasco, M. A. (2010) · Aging Cell · doi:10.1111/j.1474-9726.2010.00596.x · Cited by 136
The genetics of dyskeratosis congenita
Mason, P. J., & Bessler, M. (2011) · Cancer Genetics · doi:10.1016/j.cancergen.2011.11.002 · Cited by 167
Self-citationThe Role of Telomere Biology in Cancer
Xu, L., Li, S., & Stohr, B. A. (2013) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-020712-164030 · Cited by 160
Telomere-associated aging disorders
Opresko, P. L., & Shay, J. W. (2016) · Ageing Research Reviews · doi:10.1016/j.arr.2016.05.009 · Cited by 162
Satyanarayana, A., Wiemann, S. U., Buer, J., Lauber, J., Dittmar, K. E. J., Wüstefeld, T., Blasco, M. A., Manns, M. P., & Rudolph, K. L. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg367 · Cited by 158
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
Self-citationLi, S., Crothers, J., Haqq, C. M., & Blackburn, E. H. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m502782200 · Cited by 160
Liu, L., Blasco, M. A., Trimarchi, J. R., & Keefe, D. L. (2002) · Developmental Biology · doi:10.1006/dbio.2002.0735 · 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
Ribosomes and marrow failure: coincidental association or molecular paradigm?
Liu, J. M., & Ellis, S. R. (2006) · Blood · doi:10.1182/blood-2005-12-4831 · Cited by 159
Telomere instability in the male germline
Baird, D. M., Britt‐Compton, B., Rowson, J., Amso, N. N., Gregory, L., & Kipling, D. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi424 · Cited by 157
Armstrong, L., Saretzki, G., Peters, H., Wappler, I., Evans, J., Hole, N., von Zglinicki, T., & Lako, M. (2005) · Stem Cells · doi:10.1634/stemcells.2004-0269 · Cited by 153
RNA-based affinity purification reveals 7SK RNPs with distinct composition and regulation
Hogg, J. R., & Collins, K. (2007) · RNA · doi:10.1261/rna.565207 · Cited by 154
Telomerase regulation: not just flipping the switch
Aisner, D. L. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(01)00268-4 · Cited by 153
Long telomeres and cancer risk: the price of cellular immortality
McNally, E. J., Luncsford, P. J., & Armanios, M. Y. (2019) · Journal of Clinical Investigation · doi:10.1172/jci120851 · Cited by 154
Template boundary definition in mammalian telomerase
Chen, J.-L., & Greider, C. W. (2003) · Genes & Development · doi:10.1101/gad.1140303 · Cited by 148
Human Telomerase RNA Processing and Quality Control
Tseng, C.-K., Wang, H.-F., Burns, A. M., Schroeder, M. R., Gaspari, M., & Baumann, P. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.10.075 · 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
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
Telomeres and Telomerase in Aging, Regeneration and Cancer
Djojosubroto, M. W., Choi, Y. S., Lee, H., & Rudolph, K. L. (2003) · Molecules and Cells · doi:10.1016/s1016-8478(23)13723-x · Cited by 146
Molecular aetiology and pathogenesis of basal cell carcinoma
Tilli, C. M. L. J., Steensel, M. A. M. V., Krekels, G. A. M., Neumann, H. A. M., & Ramaekers, F. C. S. (2005) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2005.06587.x · Cited by 145
Tejera, Á. M., d’Alcontres, M. S., Thanasoula, M., Marión, R. M., Martínez, P., Liao, C., Flores, J. M., Tarsounas, M., & Blasco, M. A. (2010) · Developmental Cell · doi:10.1016/j.devcel.2010.03.011 · Cited by 157
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
Role of Telomeres and Telomerase in the Pathogenesis of Human Cancer
Hahn, W. C. (2003) · Journal of Clinical Oncology · doi:10.1200/jco.2003.06.018 · Cited by 142
Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder
Glousker, G., Touzot, F., Revy, P., Tzfati, Y., & Savage, S. A. (2015) · British Journal of Haematology · doi:10.1111/bjh.13442 · Cited by 149
The genetics of human longevity
Browner, W. S., Kahn, A., Ziv, E., Reiner, A. P., Oshima, J., Cawthon, R., Hsueh, W.-C., & Cummings, S. R. (2004) · The American Journal of Medicine · doi:10.1016/j.amjmed.2004.06.033 · Cited by 140
The Differential Diagnosis and Bone Marrow Evaluation of New-Onset Pancytopenia
Weinzierl, E. P., & Arber, D. A. (2012) · American Journal of Clinical Pathology · doi:10.1309/ajcp50aeeygrewuz · Cited by 141
Dyskeratosis congenita as a disorder of telomere maintenance
Nelson, N. D., & Bertuch, A. A. (2011) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2011.06.008 · Cited by 140
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
Fellenberg, J., Br�mmendorf, T. H., Eschlbeck, A.-M., Richter, W., & Parsch, D. (2004) · Journal of Molecular Medicine · doi:10.1007/s00109-003-0506-z · Cited by 138
Davy, P., Nagata, M., Bullard, P., Fogelson, N. S., & Allsopp, R. (2009) · Placenta · doi:10.1016/j.placenta.2009.03.005 · Cited by 137
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome
Austin, K. M., Gupta, M. L., Coats, S. A., Tulpule, A., Mostoslavsky, G., Balazs, A. B., Mulligan, R. C., Daley, G. Q., Pellman, D. S., & Shimamura, A. (2008) · Journal of Clinical Investigation · doi:10.1172/jci33764 · Cited by 139
RNomics: identification and function of small, non-messenger RNAs
Hüttenhofer, A., Brosius, J., & Bachellerie, J. (2002) · Current Opinion in Chemical Biology · doi:10.1016/s1367-5931(02)00397-6 · Cited by 140
Epigenetics and Understanding the Impact of Social Determinants of Health
Notterman, D. A., & Mitchell, C. M. (2015) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2015.05.012 · Cited by 136
Telomerase levels control the lifespan of human T lymphocytes
Röth, A., Yssel, H., Pène, J., Chavez, E. A., Schertzer, M., Lansdorp, P. M., Spits, H., & Luiten, R. M. (2003) · Blood · doi:10.1182/blood-2002-07-2015 · Cited by 133
The Nucleolar Localization Domain of the Catalytic Subunit of Human Telomerase
Etheridge, K. T., Banik, S. S. R., Armbruster, B. N., Zhu, Y., Terns, R. M., Terns, M. P., & Counter, C. M. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m201227200 · Cited by 134
RTEL1: functions of a disease-associated helicase
Vannier, J., Sarek, G., & Boulton, S. J. (2014) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.01.004 · Cited by 138
Advances in understanding the genetic basis for bone-marrow failure
Lieberman, L., & Dror, Y. (2006) · Current Opinion in Pediatrics · doi:10.1097/01.mop.0000192520.48411.fa · Cited by 136
Hypomelanoses and hypermelanoses
Lapeere, H., Boone, B., Schepper, S. D., Verhaeghe, E., Ongenae, K., van Geel, N., Lambert, J., Brochez, L., & Naeyaert, J. (2008) · Ghent University Academic Bibliography (Ghent University) · Cited by 132
Telomere biology in mammalian germ cells and during development
Bekaert, S., Derradji, H., & Baatout, S. (2004) · Developmental Biology · doi:10.1016/j.ydbio.2004.06.023 · Cited by 131
Molecular signaling and genetic pathways of senescence: Its role in tumorigenesis and aging
Zhang, H. (2006) · Journal of Cellular Physiology · doi:10.1002/jcp.20919 · Cited by 136
The Role of Telomeres in Human Disease
Armanios, M. Y. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-010422-091101 · Cited by 126
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
Self-citationCairney, C. J., & Keith, W. N. (2007) · Biochimie · doi:10.1016/j.biochi.2007.07.025 · Cited by 128
Venturin, M., Guarnieri, P., Natacci, F., Stabile, M., Tenconi, R., Clementi, M., Hernandez, C., Thompson, P., Upadhyaya, M., Larizza, L., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.014761 · Cited by 126
Hormones and growth factors regulate telomerase activity in ageing and cancer
Bayne, S., & Liu, J. (2005) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2005.05.009 · Cited by 127
Chen, J. J. ‐., & Greider, C. W. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg024 · Cited by 126
Human Telomere Structure and Biology
Riethman, H. C. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.021506.172017 · Cited by 128
Marrone, A., Stevens, D., Vulliamy, T., Dokal, I. S., & Mason, P. J. (2004) · Blood · doi:10.1182/blood-2004-05-1829 · Cited by 126
Self-citationBeginning at the ends: telomeres and human disease
Savage, S. A. (2018) · F1000Research · doi:10.12688/f1000research.14068.1 · Cited by 124
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
Metadata
- Authors
- Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I.
- Affiliations
- Hammersmith Hospital (GB)
- University of Iowa Hospitals and Clinics (US)
- Washington University in St. Louis (US)
- Corresponding author
- Mason, Philip J.
- Venue
- Nature
- Published
- 2001-09-27
- Volume
- 413
- Issue
- 6854
- Pages
- 432-435
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2044758458
- Cited by
- 960
- References
- 30
- Citations by year
- 2026: 7 · 2025: 13 · 2024: 14 · 2023: 18 · 2022: 20 · 2021: 19 · 2020: 31 · 2019: 18 · 2018: 29 · 2017: 19 · 2016: 37 · 2015: 33 · 2014: 43 · 2013: 32 · 2012: 40
- FWCI
- 35.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- dyskeratosis congenita, telomerase RNA, hTR, autosomal dominant inheritance, bone marrow failure, dyskerin, telomerase, gene mapping
- MeSH terms
- Cell Line, Chromosome Mapping, Chromosomes, Human, Pair 3, DNA Mutational Analysis, Female, Genes, Dominant, Humans, Genetic Linkage, Male, Mutation, Pedigree, RNA, Telomere, Point Mutation, Telomerase, Dyskeratosis Congenita
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
