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Dyskeratosis Congenita - A Disease of Dysfunctional Telomere Maintenance
Abstract
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome associated with abnormalities of the skin, fingernails, and tongue. Other clinical manifestations may include epiphora, lung fibrosis, liver cirrhosis, osteoporosis, and a predisposition to develop a variety of malignancies. The clinical picture often resembles that of a premature aging syndrome and tissues affected are those with a high cell turnover. DC has been linked to mutations in at least four distinct genes, three of which have been identified. The product of these genes, dyskerin, the telomerase RNA (TERC), and the catalytic unit of telomerase (TERT) are part of a ribonucleoprotein complex, the telomerase enzyme, that is essential for the elongation and maintenance of chromosome ends or telomeres. All patients with DC have excessively short telomeres, indicating that the underlying defect in these individuals is an inability to maintain the telomeres. The purpose of the current review is to highlight recent insights into the molecular pathogenesis of DC. We discuss the impact these findings have on our current understanding of telomere function and maintenance, and on the diagnosis, management, and treatment of patients with conditions caused by dysfunctional telomeres.
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“By contrast, telomere shortening is accelerated in several human premature ageing syndromes, and patients with dyskeratosis congenita and aplastic anaemia show decreased telomerase activity and shortened telomeres owing to mutations in the TERC and TERT telomerase genes.”
From The common biology of cancer and ageing (2007) · cites this paper as [64]
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Palm, W., & de Lange, T. (2008) · Annual Review of Genetics · doi:10.1146/annurev.genet.41.110306.130350 · Cited by 1,802
“These POT1b−/− mTerc+/− show a set of phenotypes that are reminiscent of Dyskeratosis congenita (82a), a disease ascribed to insufficient telomere maintenance [reviewed in (53, 132)].”
BackgroundAubert, G., & Lansdorp, P. M. (2008) · Physiological Reviews · doi:10.1152/physrev.00026.2007 · Cited by 1,188
“Short telomeres are a risk factor in the progression of ulcerative colitis to colon carcinoma (161) and in nonalcoholic fatty liver disease (157), liver cirrhosis (138), and pulmonary fibrosis (6).”
BackgroundTelomeres: protecting chromosomes against genome instability
O’Sullivan, R. J., & Karlseder, J. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2848 · Cited by 1,043
“Dyskeratosis congenita is an inherited disease that is marked by bone marrow failure, abnormal skin pigmentation, nail dystrophy and leucoplaki”
BackgroundThe common biology of cancer and ageing
Finkel, T., Serrano, M., & Blasco, M. A. (2007) · Nature · doi:10.1038/nature05985 · Cited by 988
The epigenetic regulation of mammalian telomeres
Blasco, M. A. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2047 · Cited by 600
“, and from some cases of dyskeratosis congenita and Aplastic anaemia , which show premature loss of tissue renewal associated with decreased telomerase activity and short telomere”
BackgroundTelomere and telomerase in stem cells
Hiyama, E., & Hiyama, K. (2007) · British Journal of Cancer · doi:10.1038/sj.bjc.6603671 · Cited by 573
“For instance, human MSCs (hMSCs) were reported to cease dividing rather early (around 40– 50 population doublings), whereas murine MSCs (mMSCs), that have telomerase activity, could be passaged for more than 100 population doublings (Meirelles Lda and Nardi, 2003).”
BackgroundSavage, 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
The longest telomeres: a general signature of adult stem cell compartments
Flores, I., Canela, A., Vera, E., Tejera, A., Cotsarelis, G., & Blasco, M. A. (2008) · Genes & Development · doi:10.1101/gad.451008 · Cited by 352
Canela, A., Vera, E., Klatt, P., & Blasco, M. A. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0609367104 · Cited by 347
Telomeres: Cancer to Human Aging
Stewart, S. A., & Weinberg, R. A. (2006) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.22.010305.104518 · Cited by 349
“Arguably, some of the most persuasive data on this point come from patients suffering from dyskeratosis congenita (Dokal 2001, Mason et al. 2005).”
BackgroundTelomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
Agarwal, S., Loh, Y., McLoughlin, E. M., Huang, J., Park, I., Miller, J. D., Huo, H., Okuka, M., dos Reis, R. M., Loewer, S., et al. (2010) · Nature · doi:10.1038/nature08792 · Cited by 334
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Collins, K. (2006) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1961 · Cited by 287
“It is important to refine and broaden the approaches that are used to study telomerase in the physiological context due to direct implications of telomerase deregulation and deficiency in human diseas”
BackgroundGenome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology
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Hardie, W. D., Glasser, S. W., & Hagood, J. S. (2009) · American Journal Of Pathology · doi:10.2353/ajpath.2009.081170 · Cited by 244
“Dyskeratosis congenita is a rare disorder associated with mutations in telomerase genes, with skin manifestations, bone marrow failure, and some cases, usual interstitial pneumonia, often at an early age.(99,100) Two recent studies demonstrated telomerase mutations (hTERT, hTR) in families with IPF and in some sporadi…”
BackgroundTelomerase regulation and stem cell behaviour
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“Both diseases are characterized by skin abnormalities and bone marrow failure, the latter resulting from defects in maintaining the hematopoietic stem cell compartment [48–50].”
BackgroundA ‘higher order’ of telomere regulation: telomere heterochromatin and telomeric RNAs
Schoeftner, S., & Blasco, M. A. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.197 · Cited by 232
Hallmarks of telomeres in ageing research
Shay, J., & Wright, W. E. (2007) · The Journal of Pathology · doi:10.1002/path.2090 · Cited by 211
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
“…dyskerin-mediated pseudouridine modification are determined by its assembly as a larger ribonucleoprotein complex (RNP) with three other proteins, NOP10, NHP2, and GAR1, and one member of a family of small RNAs harboring the hairpin/Hinge/hairpin/ACA (H/ACA) motif (Henras et al. 2004; Meier 2005).”
BackgroundTelomeres: Linking stress and survival, ecology and evolution
Haussmann, M. F., & Marchetto, N. M. (2010) · Current Zoology · doi:10.1093/czoolo/56.6.714 · Cited by 204
“, 2001), liver cirrhosis (Mason et al., 2005), pulmonary fibrosis (Armanios et al.”
BackgroundTelomerase 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
Telomere shortening and ageing
Jiang, H., Ju, Z., & Rudolph, K. L. (2007) · Zeitschrift für Gerontologie und Geriatrie · doi:10.1007/s00391-007-0480-0 · Cited by 165
“Terc mutations have been identified in patients with the autosomal dominant form of dyskeratosis congenita (DKC) – a disease syndrome leading to death from bone marrow failure at young age [34].”
BackgroundApollo Contributes to G Overhang Maintenance and Protects Leading-End Telomeres
Wu, P. V., van Overbeek, M., Rooney, S., & de Lange, T. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.06.031 · Cited by 170
“DC is a bone marrow failure syndrome that can be caused by mutations in telomerase components and the shelterin component TIN2, but shelterin accessory factors had not been implicated in the disease (Mason et al., 2005; Savage et al., 2008; Walne et al., 2008).”
BackgroundHuman 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
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BackgroundRashid, R., Liang, B., Baker, D. L., Youssef, O. A., He, Y., Phipps, K. R., Terns, R. M., Terns, M. P., & Li, H. (2006) · Molecular Cell · doi:10.1016/j.molcel.2005.11.017 · Cited by 167
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BackgroundBachschmid, M. M., Schildknecht, S., Matsui, R., Zee, R. S., Haeussler, D. J., Cohen, R. A., Pimental, D. R., & van der Loo, B. (2012) · Annals of Medicine · doi:10.3109/07853890.2011.645498 · Cited by 159
Modelling cancer in human skin tissue
Khavari, P. A. (2006) · Nature reviews. Cancer · doi:10.1038/nrc1838 · Cited by 154
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BackgroundTherapeutic Targeting of Telomerase
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“British Journal of Cancer (2009) 101, 1410–1416. doi:10.1038/sj.bjc.6605299 www.bjcancer.com Published online 15 September 2009 & 2009 Cancer Research UK Keywords: prostate adenocarcinoma; dyskerin; siRNA; telomerase; apoptosis; tumour progression Dyskerin, also known as Cbf5, is a predominantly nucleolar protein enco…”
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Surtees, P. G., Wainwright, N. W. J., Pooley, K. A., Luben, R., Khaw, K., Easton, D. F., & Dunning, A. M. (2011) · The Journals of Gerontology Series A · doi:10.1093/gerona/glr112 · Cited by 115
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Buckingham, E. M., & Klingelhutz, A. J. (2011) · Experimental Dermatology · doi:10.1111/j.1600-0625.2010.01242.x · Cited by 109
Cafueri, G., Parodi, F., Pistorio, A., Bertolotto, M. B., Ventura, F., Gambini, C., Bianco, P., Dallegri, F., Pistoia, V., Pezzolo, A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0035312 · Cited by 113
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Goldman, F., Bouarich, R., Kulkarni, S., FREEMAN, S., Du, H., Harrington, L. A., Mason, P. J., Londoño‐Vallejo, A., & Bessler, M. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505318102 · Cited by 105
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Wang, H., Chen, Q., Lee, S., Choi, Y., Brad Johnson, F., & Pignolo, R. J. (2012) · Aging Cell · doi:10.1111/j.1474-9726.2012.00838.x · Cited by 81
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BackgroundBessler, M., Wilson, D. B., & Mason, P. J. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.05.019 · Cited by 83
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BackgroundSelf-citationGruhn, B., Seidel, J., Zintl, F., Varon, R., Tönnies, H., Neitzel, H., Bechtold, A., Hoehn, H., & Schindler, D. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-5 · Cited by 78
Beier, F., Foronda, M., Martinez, P., & Blasco, M. A. (2012) · Blood · doi:10.1182/blood-2012-03-418038 · Cited by 79
Mimeault, M., & Batra, S. K. (2008) · Ageing Research Reviews · doi:10.1016/j.arr.2008.12.001 · Cited by 77
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InfluentialA TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in micePreprint
Frescas, D., & de Lange, T. (2014) · Genes & Development · doi:10.1101/gad.233395.113 · Cited by 61
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“telomere dysfunction [84, 85].”
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Ian, K. M. (2007) · Frontiers in bioscience · doi:10.2741/2412 · Cited by 55
“DC is a rare inherited multi-system disorder characterized by abnormal skin pigmentation and morbidity associated with bone marrow failure (190).”
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Goldman, F. D., Aubert, G., Klingelhutz, A. J., Hills, M., Cooper, S., Hamilton, W. S., Schlueter, A. J., Lambie, K., Eaves, C. J., & Lansdorp, P. M. (2008) · Blood · doi:10.1182/blood-2007-10-120204 · Cited by 54
2009 Nobel Prize in Physiology or Medicine: telomeres and telomerase
Varela, E., & Blasco, M. A. (2010) · Oncogene · doi:10.1038/onc.2010.15 · Cited by 53
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BackgroundBrennan, T. A., Egan, K. P., Lindborg, C. M., Chen, Q., Sweetwyne, M. T., Hankenson, K. D., Xie, S. X., Johnson, F. B., & Pignolo, R. J. (2014) · Disease Models & Mechanisms · doi:10.1242/dmm.014928 · Cited by 45
“…M ec ha ni sm s involved using mouse strains that had a low peak bone mass, including C57BL/6J, that would develop osteoporosis naturally with age (Matsushita et al., 1986; Perkins et al., 1994; Bergman et al., 1996; Takeda et al., 1997b; Takeda et al., 1997a; Takeda et al., 1997c; Cao et al.,…”
BackgroundEpidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14
Harel, A., Bergman, R., Indelman, M., et al. (2006) · Journal of Investigative Dermatology · doi:10.1038/sj.jid.5700296 · Cited by 45
Gu, B.-W., Fan, J., Bessler, M., & Mason, P. J. (2011) · Aging Cell · doi:10.1111/j.1474-9726.2011.00674.x · Cited by 45
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BackgroundSelf-citationPhylogeny, sequence conservation, and functional complementation of the SBDS protein family
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Noncoding RNAs of the H/ACA FamilyPreprint
Terns, M. P., & Terns, R. M. (2006) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2006.71.034 · Cited by 46
“…of clinical symptoms (indicating involvement of several proliferating cell types) that range from skin depigmentation and nail dystrophies to life-threatening bone marrow failure, premature aging, and increased propensity for certain cancers (Meier 2003; Marrone et al. 2005; Mason et al. 2005).”
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Fridlender, Z. G., Cohen, P. Y., Golan, O., Arish, N., Wallach‐Dayan, S. B., & Breuer, R. (2007) · European Respiratory Journal · doi:10.1183/09031936.00009407 · Cited by 44
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BackgroundGourronc, F. A., Robertson, M. M., Herrig, A. K., Lansdorp, P. M., Goldman, F. D., & Klingelhutz, A. J. (2009) · Experimental Dermatology · doi:10.1111/j.1600-0625.2009.00916.x · Cited by 39
Mimeault, M., & Batra, S. K. (2010) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2009.00885.x · Cited by 38
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Ju, Z., & Rudolph, K. L. (2006) · KARGER eBooks · doi:10.1159/000092502 · Cited by 39
Stem cells and aberrant signaling of molecular systems in skin aging
Peng, Y., Xuan, M., Leung, V. Y. L., & Cheng, B. (2015) · Ageing Research Reviews · doi:10.1016/j.arr.2014.10.006 · Cited by 35
Du, H., Idol, R. A., Robledo, S. M., Ivanovich, J. L., An, P., Londoño‐Vallejo, A., Wilson, D. B., Mason, P. J., & Bessler, M. (2007) · Aging Cell · doi:10.1111/j.1474-9726.2007.00324.x · Cited by 33
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BackgroundSelf-citationMachado-Pinilla, R., Sánchez‐Pérez, I., Murguía, J. R., Sastre, L., & Perona, R. (2007) · Blood · doi:10.1182/blood-2007-04-083261 · Cited by 34
Microenvironmental Regulation of Telomerase Isoforms in Human Embryonic Stem Cells
Radan, L., Hughes, C. S., Teichroeb, J. H., Zamora, F., Jewer, M., Postovit, L.-M. M., & Betts, D. H. (2014) · Stem Cells and Development · doi:10.1089/scd.2013.0373 · Cited by 34
“Aplastic anemia and dyskeratosis congenita patients, who have mutations in hTERT and/or hTERC components of telomerase, display skin abnormalities and bone marrow failure, the latter resulting from defects in maintaining the hematopoietic stem cell pool [16,17].”
Field, J. J., Mason, P. J., An, P., Kasai, Y., McLellan, M. D., Jaeger, S. R., Barnes, Y. J., King, A. A., Bessler, M., & Wilson, D. B. (2006) · Journal of Pediatric Hematology/Oncology · doi:10.1097/01.mph.0000212952.58597.84 · Cited by 28
“X-linked DC is due to mutations in DKC1, which encodes a protein involved in telomerase processing or stabilization, whereas autosomal dominant DC results from mutations in either TERT, the reverse transcriptase component of telomerase or TERC, the RNA component of telomerase.(2) In addition to bone marrow failure, DC…”
BackgroundSelf-citationHoareau‐Aveilla, C., Henry, Y. A. L., & Leblanc, T. M. (2008) · médecine/sciences · doi:10.1051/medsci/2008244390 · Cited by 32
Singh, L., Brennan, T. A., Kim, J. H., Egan, K. P., McMillan, E. A., Chen, Q., Hankenson, K. D., Zhang, Y., Emerson, S. G., Johnson, F. B., et al. (2012) · Stem Cells · doi:10.1002/stem.1294 · Cited by 25
Cellular lifespan and regenerative medicine
Petersen, T. H., & Niklason, L. E. (2007) · Biomaterials · doi:10.1016/j.biomaterials.2007.05.012 · Cited by 25
“Patients die at a young age from bone marrow failure or pulmonary complications [49].”
BackgroundThe molecular basis of ageing in stem cells
Tam, W. L., Ang, Y.-S., & Lim, B. (2006) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2006.11.020 · Cited by 25
New functions of small nucleolar RNAs
Makarova, J. A., Ivanova, S. M., Tonevitsky, A., & Grigoriev, A. I. (2013) · Biochemistry (Moscow) · doi:10.1134/s0006297913060096 · Cited by 25
Telomeres in Trisomy 21 Amniocytes
Halevy, R. S., Biron‐Shental, T., Sharony, R., Fejgin, M. D., & Amiel, A. (2011) · Cytogenetic and Genome Research · doi:10.1159/000329714 · Cited by 23
“Increased risk for myeloid malignancy in children with DS is associated with telomere shortening in blood cells [Holmes et al., 2006], similar to Fanconi anemia [Rhee et al., 2010] and dyskeratosis congenita [Mason et al., 2005].”
BackgroundBadiola, I., Santaolalla, F., García-Gallastegui, P., del Rey, A. S., Unda, F. J., & Ibarretxe, G. (2015) · Ageing Research Reviews · doi:10.1016/j.arr.2015.03.004 · Cited by 22
Stem cell ageing: does it happen and can we intervene?
Bellantuono, I., & Keith, W. N. (2007) · Expert Reviews in Molecular Medicine · doi:10.1017/s146239940700049x · Cited by 21
Pignolo, R. J. (2023) · Comprehensive physiology · doi:10.1002/cphy.c220012 · Cited by 48
“The role of Wrn and Terc genes on aging is well described (74, 118, 278, 321).”
Ocular Involvement in Primary Immunodeficiency Diseases
Hosseinverdi, S., Hashemi, H., Aghamohammadi, A., Ochs, H. D., & Rezaei, N. (2013) · Journal of Clinical Immunology · doi:10.1007/s10875-013-9974-2 · Cited by 17
“A common feature of DC is defective telomere maintenance which places affected patients at a significant risk for developing malignancies and premature aging [170].”
BackgroundPROLIFERATIVE RETINOPATHY AS A COMPLICATION OF DYSKERATOSIS CONGENITA
Mason, J. O., Yunker, J. J., Nixon, P. A., Vail, R. S., Tsilou, E., Giri, N., & Alter, B. P. (2009) · Retinal Cases & Brief Reports · doi:10.1097/01.icb.0000315662.87050.bf · Cited by 17
Dyskeratosis congenita with corneal limbal insufficiency
Aslan, D., Özdek, Ş. C., Camurdan, O. M., Bıdecı, A., & Cınaz, P. (2009) · Pediatric Blood & Cancer · doi:10.1002/pbc.21960 · Cited by 16
Telomere replication: poised but puzzling
Sampathi, S., & Chai, W. (2010) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2010.01220.x · 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
Telomere length as a predictive biomarker in osteoporosis (Review)
Kakridonis, F., Pneumatikos, S. G., Vakonaki, E., Berdiaki, A., Tzatzarakis, M. N., Fragkiadaki, P., Spandidos, D. A., Baliou, S., Ιωάννου, Π., Hatzidaki, E., et al. (2023) · Biomedical Reports · doi:10.3892/br.2023.1669 · Cited by 16
“In the aforementioned genetic disorders, osteo‑ porosis is accomplished to a greater extent than that achieved with natural aging, and the distribution of included osteoporosis in WS appears at the limbs more than the axial skeleton (78,79).”
BackgroundMaillet, F., Galimard, J., Borie, R., Lainey, É., Larcher, L., Passet, M., Plessier, A., Leblanc, T. M., Terriou, L., Lebon, D., et al. (2024) · British Journal of Haematology · doi:10.1111/bjh.19767 · Cited by 13
“2,8,9 10–16 The true prevalence of TBD is currently unknown and probably underestimated because of its clinical heterogeneity, variable age at disease onset and incomplete penetrance.”
Genetics of proliferative aging
Zucchero, T. M., & Ahmed, S. C. (2006) · Experimental Gerontology · doi:10.1016/j.exger.2006.06.057 · Cited by 10
“…the related disease aplastic anemia also have mutations in components of telomerase and display unusually short telomeres that may cause proliferative defects of the lymphatic system in middle age, in addition to less penetrant phenotypes such as brittle hair or skin spots (Mason et al., 2005).”
InfluentialMakarova, J. A., & Kramerov, D. A. (2007) · Molecular Biology · doi:10.1134/s0026893307020045 · Cited by 11
“Some mutations of the dyskerin gene cause dyskeratosis congenital, a hereditary disorder that is accompanied by poikiloderma (dystrophic changes in the skin), nail dystrophy, and several other signs [46].”
BackgroundPignolo, R. J., & Chandra, A. (2025) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2025.112025 · 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
Ge, J., Crosby, S. D., Heinz, M. E., et al. (2010) · Biochemical Journal · doi:10.1042/bj20091898 · Cited by 9
“The latter 4 proteins are also associated with telomerase RNA, which contains an H/ACA domain [4],[5], and mutations in the gene encoding dyskerin are responsible for X-linked dyskeratosis congenita, a disease whose major cause is defective telomere maintenance [6].”
Self-citationSkeletal phenotypes and molecular mechanisms in aging mice
Guan, Q., 上海体育大学运动健康学院, 上. 2., Zhang, Y., Wang, Z., Liu, X.-H., Zou, J., & Zhang, L.-L. (2024) · 动物学研究 · doi:10.24272/j.issn.2095-8137.2023.397 · Cited by 13
Szczotka, M., Kocki, J., Iwan, E., & Pluta, A. (2019) · Polish Journal of Veterinary Sciences · doi:10.24425/pjvs.2019.129299 · Cited by 8
Structure–function relationships of archaeal Cbf5 during in vivo RNA-guided pseudouridylation
Majumder, M., Bosmeny, M. S., & Gupta, R. (2016) · RNA · doi:10.1261/rna.057547.116 · Cited by 8
“Mutations of HvCbf5 corresponding to DKC1 mutations causing dyskeratosis congenita do not abolish Ψ modification Mutations of DKC1 that cause DC are well dispersed on the dyskerin structure (Mason et al. 2005).”
BackgroundMechanisms of Disordered Granulopoiesis in Congenital Neutropenia
Grenda, D. S., & Link, D. C. (2006) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(06)74005-4 · Cited by 6
Perona, R. (2010) · Clinical & Translational Oncology · doi:10.1007/s12094-010-0572-y · Cited by 5
“Mutations in either hTR or hTERT, or other components of the telomerase complex, such as dyskerin, Nola2 and Nola3, have been found in these groups of patients [ 23 , 25].”
BackgroundTelomerase as a Target for Cancer Therapeutics
Shay, J. W. (2010) · Springer eBooks · doi:10.1007/978-1-4419-6102-0_13 · Cited by 8
Telomere and Telomerase for the Regulation of Stem Cells
Hiyama, E., & Hiyama, K. (2009) · Humana Press eBooks · doi:10.1007/978-1-60327-227-8_11 · Cited by 4
“The diseases due to deficiency in telomerase activity and short telomeres are characterized by skin abnormalities and bone marrow failure, the latter resulting from defects in maintaining the hematopoietic stem cell compartment [60, 79, 80].”
BackgroundInfluentialIdentification of a novel mutation in DKC1 in dyskeratosis congenita
Kurnikova, M. A., Shagina, I. A., Khachatryan, L., Shchagina, O., Maschan, M. A., & Shagin, D. A. (2008) · Pediatric Blood & Cancer · doi:10.1002/pbc.21733 · Cited by 4
“The hypothesis that DC is primarily a disorder of telomere maintenance is strengthened by the discovery that the telomerase RNA component (TERC) and the enzymatic component (TERT) of telomerase [6], telomerase-associated protein NOP10 [7] and the recently discovered TINF2, a component of the shelterin telomere protect…”
BackgroundCell-cycle-dependent telomere elongation by telomerase in budding yeast
Li, S. (2011) · Bioscience Reports · doi:10.1042/bsr20100095 · Cited by 4
Human Mutations Affecting Reprogramming into Induced Pluripotent Stem Cells
Hayashi, Y. (2017) · AIMS Cell and Tissue Engineering · doi:10.3934/celltissue.2017.1.31 · Cited by 4
“Dyskeratosis congenita (DC; OMIM #305000) is characterized by the defective maintenance of blood, pulmonary and epidermal tissues [62,63].”
Sáez‐de‐Ocariz, M., Orozco‐Covarrubias, L., Durán‐McKinster, C., & Ruiz‐Maldonado, R. (2008) · Springer eBooks · doi:10.1007/978-3-211-69500-5_44 · Cited by 3
Telomeres and Telomerase in Ageing and Cancer
Ouellette, M. M. (2018) · Wiley eBooks · doi:10.1002/9780470015902.a0006067.pub3 · Cited by 3
Metadata
- Authors
- Mason, P., Wilson, D., & Bessler, M.
- Affiliations
- Washington University in St. Louis (US)
- ORCID
- Wilson, D.
- Venue
- Current Molecular Medicine
- Publisher
- Bentham Science Publishers Ltd.
- Published
- 2005-03-01
- Volume
- 5
- Issue
- 2
- Pages
- 159-170
- ISSN
- 1566-5240 (ISSN-L)
- OpenAlex
- W2110736059
- Cited by
- 129
- References
- 0
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 4 · 2020: 2 · 2019: 4 · 2018: 2 · 2017: 1 · 2016: 3 · 2015: 1 · 2014: 9 · 2013: 5 · 2012: 9
- FWCI
- 10.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Molecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (R01CA105312, CA105312-01)
- 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, telomere maintenance, telomerase, dyskerin, telomerase reverse transcriptase (TERT), bone marrow failure, premature aging, genetic disorders, molecular pathogenesis, telomere dysfunction, cancer susceptibility, pulmonary fibrosis, liver cirrhosis
- MeSH terms
- Humans, Mutation, Neoplasms, Genetic Therapy, Telomere, Telomerase, Dyskeratosis Congenita, Genetic Predisposition to Disease, Chromosomes, Human, X
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