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 601–700 of 958
Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis
Montanaro, L., Tazzari, P. L., & Derenzini, M. (2003) · Journal of Clinical Pathology · doi:10.1136/jcp.56.8.583 · Cited by 15
Yingling, Y. G., & Shapiro, B. A. (2007) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2007.10531238 · Cited by 16
Genotype-phenotype correlations for cataracts in neurofibromatosis 2
Baser, M. E., Kuramoto, L., Joe, H., Friedman, J. M., Wallace, A. J., Ramsden, R. T., & Evans, D. G. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.10.758 · Cited by 16
Tometten, M., Beier, F., Kirschner, M., Schumacher, Y., Walter, J., Vieri, M., Kricheldorf, K., Röth, A., Platzbecker, U., Radsak, M. P., et al. (2025) · Blood Advances · doi:10.1182/bloodadvances.2024014632 · Cited by 15
Telomerase RNA structural heterogeneity in living human cells detected by DMS-MaPseq
Forino, N. M., Woo, J. Z., Zaug, A. J., Jimenez, A. G., Edelson, E., Cech, T. R., Rouskin, S., & Stone, M. D. (2025) · Nature Communications · doi:10.1038/s41467-025-56149-6 · Cited by 15
Pereboeva, L., Hubbard, M. G., Goldman, F. D., & Westin, E. R. (2016) · PLoS ONE · doi:10.1371/journal.pone.0148793 · Cited by 15
Self-citationWhite lesions of the oral cavity
Messadi, D. V., Waibel, J. S., & Mirowski, G. W. (2003) · Dermatologic Clinics · doi:10.1016/s0733-8635(02)00069-4 · Cited by 15
Hornsby, P. J. (2010) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2010.07.011 · Cited by 16
Telomeric chromatin: Roles in aging, cancer and hereditary disease
McCord, R., & Broccoli, D. (2008) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2008.08.005 · Cited by 18
Forms and Functions of Telomerase RNA
Collins, K. (2008) · Springer series in biophysics · doi:10.1007/978-3-540-70840-7_14 · Cited by 15
The importance of pseudouridylation: human disorders related to the fifth nucleoside
Keszthelyi, T. M., & Tory, K. (2023) · Biologia Futura · doi:10.1007/s42977-023-00158-3 · Cited by 14
Oncogene SCARNA12 as a potential diagnostic biomarker for colorectal cancer
Zhang, H., Liu, X., Zhang, W., Deng, J., Lin, C., Qi, Z., Li, Y., Gu, Y., Wang, Q., Shen, L., et al. (2023) · Molecular Biomedicine · doi:10.1186/s43556-023-00147-x · Cited by 14
Chakarov, S., Ohridsky", S. K., Petkova, R., Service, S. T., Russev, G. C., & Zhelev, N. (2014) · Biodiscovery · doi:10.7750/biodiscovery.2014.12.1 · Cited by 14
Pavlaki, K. I., Kastrinaki, M.-C., Klontzas, M., Velegraki, M., Mavroudi, I., & Papadaki, H. Α. (2011) · Haematologica · doi:10.3324/haematol.2011.053983 · Cited by 14
Telomere dysfunction in human keratinocytes elicits senescence and a novel transcription profile
Minty, F., Thurlow, J. K., HARRISON, P., & Parkinson, E. K. (2008) · Experimental Cell Research · doi:10.1016/j.yexcr.2008.05.007 · Cited by 16
Widmann, T., Kneer, H., König, J., Herrmann, M., & Pfreundschuh, M. G. (2007) · Experimental Hematology · doi:10.1016/j.exphem.2007.08.028 · Cited by 14
Hereditary and Congenital Nail Disorders
Juhlin, L., & Baran, R. (2001) · Wiley eBooks · doi:10.1002/9780470694947.ch9 · Cited by 14
Aplastic anaemia and telomerase RNA mutations
Calado, R. T., Pintão, M.-C., Silva, W. A., Falcão, R. P., & Zago, M. A. (2002) · The Lancet · doi:10.1016/s0140-6736(02)11551-0 · Cited by 14
Reconstitution of Archaeal H/ACA sRNPs and Test of their Activity
Charpentier, B., Fourmann, J., & Branlant, C. (2007) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(07)25016-5 · Cited by 18
Telomerase gene mutation screening in Chinese patients with aplastic anemia
Han, B., Liu, B., Cui, W., Wang, X., Lin, J., & Zhao, Y. (2009) · Leukemia Research · doi:10.1016/j.leukres.2009.11.001 · Cited by 12
jouvence, a new human snoRNA involved in the control of cell proliferation
El-Khoury, F., Bignon, J. S., & Martin, J. (2020) · BMC Genomics · doi:10.1186/s12864-020-07197-3 · Cited by 12
Genetic Syndromic Immunodeficiencies with Antibody Defects
Ming, J. E., & Stiehm, E. R. (2008) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2008.06.007 · Cited by 13
Influence of telomere length on short-term recovery after allogeneic stem cell transplantation
Widmann, T., Willmann, B., Pfreundschuh, M. G., & Beelen, D. W. (2005) · Experimental Hematology · doi:10.1016/j.exphem.2005.05.019 · Cited by 14
Genetic and Epigenetic Inheritance at Telomeres
Lister‐Shimauchi, E. H., McCarthy, B., Lippincott, M. J., & Ahmed, S. C. (2022) · Epigenomes · doi:10.3390/epigenomes6010009 · Cited by 13
Polygenic modifiers impact penetrance and expressivity in telomere biology disorders
Poeschla, M., Arora, U. P., Walne, A. J., McReynolds, L. J., Niewisch, M. R., Giri, N., Zeigler, L. P., Gusev, A., Machiela, M. J., Tummala, H., et al. (2025) · Journal of Clinical Investigation · doi:10.1172/jci191107 · Cited by 12
Telomerase deficiency and cancer susceptibility syndromes
Perona, R., Machado-Pinilla, R., Manguán-García, C., & Carrillo, J. (2009) · Clinical & Translational Oncology · doi:10.1007/s12094-009-0432-9 · Cited by 12
Bohn, O. L., Whitten, J. A., Spitzer, B. G., Kobos, R., Prockop, S. E., Boulad, F., Arcila, M. E., Wang, L., & Teruya‐Feldstein, J. (2012) · International Journal of Surgical Pathology · doi:10.1177/1066896912468214 · Cited by 12
Gude, L., Berkovitch, S. S., Santos, W. L., Kutchukian, P. S., Pawloski, A. R., Kuimelis, R. G., McGall, G. H., & Verdine, G. L. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.316596 · Cited by 12
Telomere dynamics in induced pluripotent stem cells: Potentials for Human disease modeling
Ly, H. (2011) · World Journal of Stem Cells · doi:10.4252/wjsc.v3.i10.89 · Cited by 14
The Epigenetic Regulation of Telomere Maintenance in Aging
Shekhidem, H. A., & Atzmon, G. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-811060-7.00005-x · Cited by 14
Treating Senescence like Cancer: Novel Perspectives in Senotherapy of Chronic Diseases
Mongelli, A., Atlante, S., Barbi, V., Bachetti, T., Martelli, F., Farsetti, A., & Gaetano, C. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21217984 · Cited by 12
Järås, M., Brun, A. C. M., Karlsson, S., & Fan, X. (2007) · Experimental Hematology · doi:10.1016/j.exphem.2006.11.004 · Cited by 12
Henslee, G., Williams, C. L., Liu, P., & Bertuch, A. A. (2021) · Molecular Case Studies · doi:10.1101/mcs.a005454 · Cited by 11
Epigenetics alternation in lung fibrosis and lung cancer
Li, X., Feng, C., & Peng, S. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1060201 · Cited by 11
Genetics of proliferative aging
Zucchero, T. M., & Ahmed, S. C. (2006) · Experimental Gerontology · doi:10.1016/j.exger.2006.06.057 · Cited by 10
Genome-wide association study on 13 167 individuals identifies regulators of blood CD34+cell levels
Portilla, A. L. D. L., Ekdahl, L., Cafaro, C., Ali, Z., Miharada, N., Þorleifsson, G., Žemaitis, K., Arrizabalaga, A. L., Thodberg, M., Pertesi, M., et al. (2022) · Blood · doi:10.1182/blood.2021013220 · Cited by 11
Multiple Mechanisms Contribute To Telomere Maintenance.
Morrish, T. A., Bekbolysnov, D., Velliquette, D., Morgan, M., Ross, B., Wang, Y., Chaney, B., McQuigg, J. L., Fager, N., & Maine, I. P. (2013) · PubMed · Cited by 10
Mefford, M. A., & Zappulla, D. C. (2015) · Molecular and Cellular Biology · doi:10.1128/mcb.00794-15 · Cited by 9
Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases
Dvorak, L. A., Vassallo, R., Kirmani, S., Johnson, G. B., Hartman, T. E., Tazelaar, H. D., Leslie, K. O., Colby, T. V., Cockcroft, D. W., Churg, A., et al. (2014) · Human Pathology · doi:10.1016/j.humpath.2014.10.003 · Cited by 11
Introduction to Telomeres and Telomerase
Songyang, Z. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-092-8_1 · Cited by 11
Wang, J., Liu, L., & Ma, H. (2016) · Sensors and Actuators B Chemical · doi:10.1016/j.snb.2016.08.021 · Cited by 11
No attenuation of the ATM-dependent DNA damage response in murine telomerase-deficient cells
Erdmann, N., & Harrington, L. A. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.11.009 · Cited by 11
Telomerase inhibitors: a new option for chemotherapy
Chen, Z., & Corey, D. R. (2003) · Advances in cancer research · doi:10.1016/s0065-230x(03)87173-7 · Cited by 11
Telomerase inhibitors: a new option for chemotherapy
Chen, Z. J., & Corey, D. R. (2003) · Advances in cancer research · doi:10.1016/s0065-230x(03)87294-9 · Cited by 11
Telomere dysfunction in human bone marrow failure syndromes
Shtessel, L., & Ahmed, S. C. (2011) · Nucleus · doi:10.4161/nucl.2.1.13993 · Cited by 12
Other Well-Defined Immunodeficiencies
Yeganeh, M., Gambineri, E., Abolmaali, K., Tamizifar, B., & Español, T. (2008) · Springer eBooks · doi:10.1007/978-3-540-78936-9_9 · Cited by 10
Convergence of The Nobel Fields of Telomere Biology and DNA Repair
Fouquerel, E., & Opresko, P. L. (2016) · Photochemistry and Photobiology · doi:10.1111/php.12672 · Cited by 12
Inherited Bone Marrow Failure Syndromes
Canham, L. E., & de Jong, J. L. O. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00131-1 · Cited by 10
Morita, M., Nakanishi, K., Kawai, T., & Fujikawa, K. (2004) · Human Pathology · doi:10.1016/j.humpath.2003.08.022 · Cited by 10
Castori, M., Ceccarini, C., Castiglia, D., Ruggeri, S., Dallapiccola, B., & Zambruno, G. (2007) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2006.07661.x · Cited by 10
Dyskeratosis Congenita in an Adolescent Girl with Associated Choanal Atresia
Lener, E. V., Tom, W. L., & Cunningham, B. B. (2005) · Pediatric Dermatology · doi:10.1111/j.1525-1470.2005.22107.x · Cited by 10
Lipsker, D. M. (2003) · Dermatology · doi:10.1159/000073082 · Cited by 10
Roles of ribosomal RNA in health and disease
Johnston, R., Aldrich, A., & Lyons, S. M. (2024) · Frontiers in RNA Research · doi:10.3389/frnar.2023.1331185 · Cited by 10
Shepelev, N. M., Донцова, О. А., & Rubtsova, M. P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24055027 · Cited by 9
Polonio, A. M., Medrano, M., Chico-Sordo, L., Córdova-Oriz, I., Cozzolino, M., Montáns, J., Herraiz, S., Seli, E. U., Pellicer, A., García-Velasco, J. A., et al. (2023) · Aging · doi:10.18632/aging.204731 · Cited by 10
Measuring Telomere Length—From Ends to Means
Petkova, R., Chicheva, Z., & Chakarov, S. (2011) · Biotechnology & Biotechnological Equipment · doi:10.5504/bbeq.2011.0103 · Cited by 8
Lichenoid and interface dermatitis
Wang, W., & Lazar, A. J. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4160-5649-2.00007-x · Cited by 9
Bilsland, A. E., Liu, Y., Turnbull, A. P., Sumpton, D. P., Stevenson, K. H., Cairney, C. J., Boyd, S. M., Roffey, J., Jenkinson, D., & Keith, W. N. (2019) · Neoplasia · doi:10.1016/j.neo.2019.07.008 · Cited by 9
Peripheral neuropathy—a novel finding in dyskeratosis congenita
Ip, P., Knight, R., Dokal, I. S., Manzur, A. Y., & Francesco Muntoni, A. (2005) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2005.01.007 · Cited by 9
Self-citationReplicative Senescence and Cancer
Hornsby, P. J. (2006) · Kluwer Academic Publishers eBooks · doi:10.1007/0-387-23962-6_3 · Cited by 9
POT of gold: modeling dyskeratosis congenita in the mouse: Figure 1.Preprint
Autexier, C. (2008) · Genes & Development · doi:10.1101/gad.1695808 · Cited by 9
Single‐Molecule FRET Reveals the Folding Dynamics of the Human Telomerase RNA Pseudoknot Domain
Hengesbach, M., Kim, N., Feigon, J. F., & Stone, M. D. (2012) · Angewandte Chemie · doi:10.1002/ange.201200526 · Cited by 8
Genetic testing in diffuse parenchymal lung disease
Spagnolo, P., Luppi, F., Cerri, S., & Richeldi, L. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-79 · Cited by 8
Common Presentations and Diagnostic Approaches
Rezaei, N., de Vries, E., Gambineri, E., & Haddad, É. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405546-9.00001-7 · Cited by 8
Dyskeratosis Congenita and the Telomere Biology Disorders
Dodson, L. M., & Bertuch, A. A. (2018) · Pediatric oncology · doi:10.1007/978-3-319-61421-2_6 · Cited by 8
Niaz, A., Truong, J. Q., Manoleras, A., Fox, L. C., Blombery, P. A., Vasireddy, R. S., Pickett, H. A., Curtin, J. A., Barbaro, P., Rodgers, J., et al. (2022) · Blood Advances · doi:10.1182/bloodadvances.2022007029 · Cited by 8
Toward Elucidating Epigenetic and Metabolic Regulation of Stem Cell Lineage Plasticity in Skin Aging
Lyu, Y., & Ge, Y. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.903904 · Cited by 9
Update on childhood neutropenia: molecular and clinical advances
Dror, Y., & Sung, L. (2004) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2004.06.013 · Cited by 8
Molecular Diagnosis and Precision Therapeutic Approaches for Telomere Biology Disorders
Perona, R., Iarriccio, L., Pintado‐Berninches, L., Rodríguez-Centeno, J., Manguán-García, C., Garcia, E., López‐Ayllón, B. D., & Sastre, L. (2016) · InTech eBooks · doi:10.5772/65353 · Cited by 9
Telomere Damage Response and Low-Grade Inflammation
Wang, L., Yu, X., & Liu, J. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-981-10-5987-2_10 · Cited by 8
Mathematical model to study the aging of the human follicle according to the telomerase activity
Portillo, A. M., Varela, E., & García-Velasco, J. A. (2018) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2018.11.036 · Cited by 8
Telomerase as a Target for Cancer Therapeutics
Shay, J. W. (2010) · Springer eBooks · doi:10.1007/978-1-4419-6102-0_13 · Cited by 8
Pathophysiology and treatment of aplastic anemia
Geissler, K. H. (2003) · Wiener klinische Wochenschrift · doi:10.1007/bf03041027 · Cited by 8
NOLA1 gene mutations in acquired aplastic anemia
Pigullo, S., Pavesi, E., Dianzani, I., Santamaria, G., Svahn, J., Risso, M., Lint, M. T. V., Pillon, M., Iori, A. P., Longoni, D. V., et al. (2008) · Pediatric Blood & Cancer · doi:10.1002/pbc.21813 · Cited by 8
Canonical and non-canonical functions of the non-coding RNA component (TERC) of telomerase complex
Cao, C., Gong, W., Shuai, Y., Rasouli, S., Ge, Q., Anam Qadir, K. H. A. N., Dakic, A., Putluri, N., Shvets, G. B., Zheng, Y., et al. (2025) · Cell & Bioscience · doi:10.1186/s13578-025-01367-0 · Cited by 8
Shan, S., Li, J., Han, G., Zhang, R., Liu, Z., & Zhang, Z. (2022) · The Analyst · doi:10.1039/d2an00525e · Cited by 7
Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders
Lasho, T. L., & Patnaik, M. M. (2023) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-023-00719-2 · Cited by 8
TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity
Terada, K., Miyake, K., Yamaguchi, H., Miyake, N., Yamanaka, K., Kojima, S., Ito, E., Inokuchi, K., & Okada, T. (2020) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.13176 · Cited by 8
Mutational analysis of telomere complex genes in Indian population with acquired aplastic anemia
Singh, I., Nunia, V., Sharma, R., Barupal, J. K., Govindaraj, P., Jain, R., Gupta, G. N., & Goyal, P. K. (2015) · Leukemia Research · doi:10.1016/j.leukres.2015.08.018 · Cited by 7
Nouvelles formes de dyskératoses congénitales
Touzot, F., Guen, T. L., de Villartay, J., & Revy, P. (2012) · médecine/sciences · doi:10.1051/medsci/2012286015 · Cited by 9
Cellular turnover of normal gastrointestinal epithelium assessed by changes in telomeric
Craig, W. L., McKinlay, A., & Vickers, M. A. (2003) · European Journal of Gastroenterology & Hepatology · doi:10.1097/00042737-200311000-00008 · Cited by 7
Vulliamy, T. J. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-0091-6 · Cited by 7
Self-citationThe molecular basis of congenital thrombocytopenias: Insights into megakaryopoiesis
Geddis, A. E. (2005) · Hematology · doi:10.1080/10245330512331390401 · Cited by 7
Balci, S., Engiz, O., Erekul, A., Gözdaşoğlu, S., & Vulliamy, T. (2008) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/j.1468-3083.2008.02985.x · Cited by 7
Self-citationAyas, M. F., & Ahmed, S. O. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804152-9.00018-x · Cited by 7
Dyskeratosis congenita: a disorder of telomerase deficiency and its relationship to other diseases
Marrone, A., & Dokal, I. S. (2006) · Expert Review of Dermatology · doi:10.1586/17469872.1.3.463 · Cited by 7
Self-citationNoncoding RNAs in Chromatin Organization and Transcription Regulation: An Epigenetic View
Dhanasekaran, K., Kumari, S., & Kanduri, C. (2012) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-94-007-4525-4_15 · Cited by 7
Telomerase Mutations in Aplastic Anemia
Fibbe, W. E. (2005) · New England Journal of Medicine · doi:10.1056/nejme058015 · Cited by 7
Expression and Suppression of Human Telomerase RNAPreprint
LI, S., & Blackburn, E. H. (2006) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2006.71.009 · Cited by 7
Galati, A., Scatolini, L., Micheli, E., Bavasso, F., Cicconi, A., Maccallini, P., Chen, L., Roake, C. M., Schoeftner, S., Artandi, S. E., et al. (2021) · FEBS Letters · doi:10.1002/1873-3468.14240 · Cited by 6
A persistent variant telomere sequence in a human pedigree
Hinchie, A. M., Sanford, S. L., Loughridge, K. E., Sutton, R. M., Parikh, A. H., Silva, A. A. G., Sullivan, D. I., Chun‐on, P., Morrell, M. R., McDyer, J. F., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49072-9 · Cited by 6
Telomeres and Psychological Stress: Perspective on Psychopathologies
Akay, G. G. (2022) · Nöro Psikiyatri Arşivi · doi:10.29399/npa.28125 · Cited by 7
O'Connor, T. E., Shaw, R. C., Madero‐Marroquin, R., & Roloff, G. W. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1180439 · Cited by 6
Non-neutral role of replicative senescence in tissue homeostasis and tumorigenesis
Poyatos, J. F., & Carnero, A. (2004) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2004.05.011 · Cited by 6
Insight into the Protein Components of the Box H/ACA RNP
Karijolich, J. J., & Yu, Y. (2008) · Current Proteomics · doi:10.2174/157016408784911936 · Cited by 6
Telomerase inhibition alters telomere maintenance mechanisms in laryngeal squamous carcinoma cells
Chen, W., Chen, S. M., Yu, Y., Xiao, B. K., Huang, Z., & Tao, Z. (2010) · The Journal of Laryngology & Otology · doi:10.1017/s0022215109992854 · Cited by 6
Dokal, I. S. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405546-9.00011-x · Cited by 6
Self-citationOral Manifestations and Molecular Basis of Oral Genodermatoses: A Review
Kumar, K. (2016) · JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH · doi:10.7860/jcdr/2016/17647.7751 · Cited by 6
Common presentations and diagnostic approaches
Rezaei, N., de Vries, E., Gambineri, E., Meyts, I., & Haddad, É. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-816768-7.00001-6 · Cited by 5
Mechanistic insight into the pseudouridylation of RNA
Lin, T., Stone, Y., & Glatt, S. (2025) · RNA Biology · doi:10.1080/15476286.2025.2541421 · Cited by 5
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
