DOI: 10.1016/j.bcmd.2004.12.008. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

10.1016/j.bcmd.2004.12.008

Crossref journal-article

Elsevier BV

Blood Cells, Molecules, and Diseases (78)

Bibliography

Vulliamy, T. J., Walne, A., Baskaradas, A., Mason, P. J., Marrone, A., & Dokal, I. (2005). Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells, Molecules, and Diseases, 34(3), 257â263.

Authors 6

Tom J. Vulliamy (first)
Amanda Walne (additional)
Aroon Baskaradas (additional)
Philip J. Mason (additional)
Anna Marrone (additional)
Inderjeet Dokal (additional)

References 33 Referenced 168

10.1046/j.1365-2141.2000.02109.x / Br. J. Haematol. / Dyskeratosis congenita in all its forms by Dokal (2000)
10.1016/S0140-6736(03)14369-3 / Lancet / Telomere maintenance and disease by Wong (2003)
10.1038/35096585 / Nature / The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita by Vulliamy (2001)
10.1016/S0140-6736(02)09087-6 / Lancet / Association between aplastic anaemia and mutations in telomerase RNA by Vulliamy (2002)
10.1182/blood-2003-01-0335 / Blood / Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome by Yamaguchi (2003)
10.1016/S0140-6736(03)14797-6 / Lancet / Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA by Fogarty (2003)
10.1098/rstb.2003.1370 / Philos. Trans. R. Soc. London / Telomeres and telomerase by Chan (2004)
10.1126/science.7544491 / Science / The RNA component of human telomerase by Feng (1995)
10.1126/science.277.5328.955 / Science / Telomerase catalytic subunit homologs from fission yeast and human by Nakamura (1997)
10.1038/ng0598-32 / Nat. Genet. / X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions by Heiss (1998)
10.1038/990141 / Nature / A telomerase component is defective in the human disease dyskeratosis congenita by Mitchell (1999)
10.1006/bcmd.2001.0389 / Blood Cells, Mol. Dis. / Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita by Vulliamy (2001)
10.1101/gad.12.4.527 / Genes Dev. / The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase by Lafontaine (1998)
10.1038/ng0598-6 / Nat. Genet. / Dyskeratosis and ribosomal rebellion by Luzzatto (1998)
10.1126/science.1079447 / Science / Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification by Ruggero (2003)
10.1073/pnas.0402560101 / Proc. Natl. Acad. Sci. U. S. A. / Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity and ribosomal RNA processing by Mochizuki (2004)
10.1007/s000180300042 / Cell. Mol. Life Sci. / Dyskeratosis congenita by Marrone (2003)
10.1073/pnas.94.25.13782 / Proc. Natl. Acad. Sci. U. S. A. / In vivo telomere dynamics of human hematopoietic stem cells by Notaro (1997)
10.1038/ng1346 / Nat. Genet. / Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC by Vulliamy (2004)
10.1182/blood.V97.4.895 / Blood / Telomere length in leukocyte subpopulations of patients with aplastic anemia by Brummendorf (2001)
10.1046/j.1365-2141.1999.01690.x / Br. J. Haematol. / Unexplained aplastic anaemia, immunodeficiency and cerebellar hypoplasia (Hoyeraal–Hreidarsson syndrome) is caused by mutation in the DKC1 gene by Knight (1999)
10.1128/MCB.21.22.7775-7786.2001 / Mol. Cell. Biol. / N-terminal domains of the human telomerase catalytic subunit required for enzyme activity in vivo by Armbruster (2001)
10.1038/346866a0 / Nature / Telomere reduction in human colorectal carcinoma and with ageing by Hastie (1990)
10.1038/ng1084 / Nat. Genet. / Extensive allelic variation and ultrashort telomeres in senescent human cells by Baird (2003)
10.1182/blood.V91.10.3582 / Blood / Progressive telomere shortening in aplastic anemia by Ball (1998)
10.1128/MCB.22.17.6234-6246.2002 / Mol. Cell. Biol. / C-terminal regions of the human telomerase catalytic subunit essential for in vivo enzyme activity by Banik (2002)
10.1093/nar/gkg437 / Nucleic Acids Res. / The C terminus of the human telomerase reverse transcriptase is a determinant of enzyme processivity by Huard (2003)
10.1101/gad.13.18.2388 / Genes Dev. / Telomere shortening and apoptosis in telomerase-inhibited human tumor cells by Zhang (1999)
10.1086/374565 / Am. J. Hum. Genet. / Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome by Zhang (2003)
10.1073/pnas.262663599 / Proc. Natl. Acad. Sci. U. S. A. / A molecular switch underlies a human telomerase disease by Comolli (2002)
10.1016/S1097-2765(03)00196-5 / Mol. Cell / Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs by Fu (2003)
10.1128/MCB.23.19.6849-6856.2003 / Mol. Cell. Biol. / Comprehensive structure–function analysis of the core domain of human telomerase RNA by Ly (2003)
10.1182/blood-2004-05-1829 / Blood / The effect on telomerase activity of telomerase RNA (TERC) mutations found in dyskeratosis congenita and aplastic anemia by Marrone (2004)

Dates

Type	When
Created	20 years, 4 months ago (April 22, 2005, 9:32 a.m.)
Deposited	5 years, 4 months ago (April 6, 2020, 9:45 p.m.)
Indexed	4 days ago (Aug. 29, 2025, 6:21 a.m.)
Issued	20 years, 4 months ago (May 1, 2005)
Published	20 years, 4 months ago (May 1, 2005)
Published Print	20 years, 4 months ago (May 1, 2005)

Funders 0

None

BibTeX

@article{Vulliamy_2005, title={Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure}, volume={34}, ISSN={1079-9796}, url={http://dx.doi.org/10.1016/j.bcmd.2004.12.008}, DOI={10.1016/j.bcmd.2004.12.008}, number={3}, journal={Blood Cells, Molecules, and Diseases}, publisher={Elsevier BV}, author={Vulliamy, Tom J. and Walne, Amanda and Baskaradas, Aroon and Mason, Philip J. and Marrone, Anna and Dokal, Inderjeet}, year={2005}, month=may, pages={257–263} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        8,
        29
      ]
    ],
    "date-time": "2025-08-29T10:21:04Z",
    "timestamp": 1756462864072
  },
  "reference-count": 33,
  "publisher": "Elsevier BV",
  "issue": "3",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2005,
            5,
            1
          ]
        ],
        "date-time": "2005-05-01T00:00:00Z",
        "timestamp": 1114905600000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://www.elsevier.com/tdm/userlicense/1.0/"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2005,
        5
      ]
    ]
  },
  "DOI": "10.1016/j.bcmd.2004.12.008",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2005,
        4,
        22
      ]
    ],
    "date-time": "2005-04-22T13:32:33Z",
    "timestamp": 1114176753000
  },
  "page": "257-263",
  "source": "Crossref",
  "is-referenced-by-count": 168,
  "title": "Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure",
  "prefix": "10.1016",
  "volume": "34",
  "author": [
    {
      "given": "Tom J.",
      "family": "Vulliamy",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Amanda",
      "family": "Walne",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Aroon",
      "family": "Baskaradas",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Philip J.",
      "family": "Mason",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Anna",
      "family": "Marrone",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Inderjeet",
      "family": "Dokal",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "78",
  "reference": [
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib1",
      "doi-asserted-by": "crossref",
      "first-page": "768",
      "DOI": "10.1046/j.1365-2141.2000.02109.x",
      "article-title": "Dyskeratosis congenita in all its forms",
      "volume": "110",
      "author": "Dokal",
      "year": "2000",
      "journal-title": "Br. J. Haematol."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib2",
      "doi-asserted-by": "crossref",
      "first-page": "983",
      "DOI": "10.1016/S0140-6736(03)14369-3",
      "article-title": "Telomere maintenance and disease",
      "volume": "362",
      "author": "Wong",
      "year": "2003",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib3",
      "doi-asserted-by": "crossref",
      "first-page": "432",
      "DOI": "10.1038/35096585",
      "article-title": "The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita",
      "volume": "413",
      "author": "Vulliamy",
      "year": "2001",
      "journal-title": "Nature"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib4",
      "doi-asserted-by": "crossref",
      "first-page": "2168",
      "DOI": "10.1016/S0140-6736(02)09087-6",
      "article-title": "Association between aplastic anaemia and mutations in telomerase RNA",
      "volume": "359",
      "author": "Vulliamy",
      "year": "2002",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib5",
      "doi-asserted-by": "crossref",
      "first-page": "916",
      "DOI": "10.1182/blood-2003-01-0335",
      "article-title": "Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome",
      "volume": "102",
      "author": "Yamaguchi",
      "year": "2003",
      "journal-title": "Blood"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib6",
      "doi-asserted-by": "crossref",
      "first-page": "1628",
      "DOI": "10.1016/S0140-6736(03)14797-6",
      "article-title": "Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA",
      "volume": "362",
      "author": "Fogarty",
      "year": "2003",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib7",
      "doi-asserted-by": "crossref",
      "first-page": "109",
      "DOI": "10.1098/rstb.2003.1370",
      "article-title": "Telomeres and telomerase",
      "volume": "359",
      "author": "Chan",
      "year": "2004",
      "journal-title": "Philos. Trans. R. Soc. London"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib8",
      "doi-asserted-by": "crossref",
      "first-page": "1236",
      "DOI": "10.1126/science.7544491",
      "article-title": "The RNA component of human telomerase",
      "volume": "269",
      "author": "Feng",
      "year": "1995",
      "journal-title": "Science"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib9",
      "doi-asserted-by": "crossref",
      "first-page": "955",
      "DOI": "10.1126/science.277.5328.955",
      "article-title": "Telomerase catalytic subunit homologs from fission yeast and human",
      "volume": "277",
      "author": "Nakamura",
      "year": "1997",
      "journal-title": "Science"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib10",
      "doi-asserted-by": "crossref",
      "first-page": "32",
      "DOI": "10.1038/ng0598-32",
      "article-title": "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions",
      "volume": "19",
      "author": "Heiss",
      "year": "1998",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib11",
      "doi-asserted-by": "crossref",
      "first-page": "551",
      "DOI": "10.1038/990141",
      "article-title": "A telomerase component is defective in the human disease dyskeratosis congenita",
      "volume": "402",
      "author": "Mitchell",
      "year": "1999",
      "journal-title": "Nature"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib12",
      "doi-asserted-by": "crossref",
      "first-page": "353",
      "DOI": "10.1006/bcmd.2001.0389",
      "article-title": "Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita",
      "volume": "27",
      "author": "Vulliamy",
      "year": "2001",
      "journal-title": "Blood Cells, Mol. Dis."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib13",
      "doi-asserted-by": "crossref",
      "first-page": "527",
      "DOI": "10.1101/gad.12.4.527",
      "article-title": "The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase",
      "volume": "15",
      "author": "Lafontaine",
      "year": "1998",
      "journal-title": "Genes Dev."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib14",
      "doi-asserted-by": "crossref",
      "first-page": "6",
      "DOI": "10.1038/ng0598-6",
      "article-title": "Dyskeratosis and ribosomal rebellion",
      "volume": "19",
      "author": "Luzzatto",
      "year": "1998",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib15",
      "doi-asserted-by": "crossref",
      "first-page": "259",
      "DOI": "10.1126/science.1079447",
      "article-title": "Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification",
      "volume": "299",
      "author": "Ruggero",
      "year": "2003",
      "journal-title": "Science"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib16",
      "doi-asserted-by": "crossref",
      "first-page": "10756",
      "DOI": "10.1073/pnas.0402560101",
      "article-title": "Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity and ribosomal RNA processing",
      "volume": "101",
      "author": "Mochizuki",
      "year": "2004",
      "journal-title": "Proc. Natl. Acad. Sci. U. S. A."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib17",
      "doi-asserted-by": "crossref",
      "first-page": "507",
      "DOI": "10.1007/s000180300042",
      "article-title": "Dyskeratosis congenita",
      "volume": "60",
      "author": "Marrone",
      "year": "2003",
      "journal-title": "Cell. Mol. Life Sci."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib18",
      "doi-asserted-by": "crossref",
      "first-page": "13782",
      "DOI": "10.1073/pnas.94.25.13782",
      "article-title": "In vivo telomere dynamics of human hematopoietic stem cells",
      "volume": "94",
      "author": "Notaro",
      "year": "1997",
      "journal-title": "Proc. Natl. Acad. Sci. U. S. A."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib19",
      "doi-asserted-by": "crossref",
      "first-page": "447",
      "DOI": "10.1038/ng1346",
      "article-title": "Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC",
      "volume": "36",
      "author": "Vulliamy",
      "year": "2004",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib20",
      "doi-asserted-by": "crossref",
      "first-page": "895",
      "DOI": "10.1182/blood.V97.4.895",
      "article-title": "Telomere length in leukocyte subpopulations of patients with aplastic anemia",
      "volume": "97",
      "author": "Brummendorf",
      "year": "2001",
      "journal-title": "Blood"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib21",
      "doi-asserted-by": "crossref",
      "first-page": "335",
      "DOI": "10.1046/j.1365-2141.1999.01690.x",
      "article-title": "Unexplained aplastic anaemia, immunodeficiency and cerebellar hypoplasia (Hoyeraal\u2013Hreidarsson syndrome) is caused by mutation in the DKC1 gene",
      "volume": "107",
      "author": "Knight",
      "year": "1999",
      "journal-title": "Br. J. Haematol."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib22",
      "doi-asserted-by": "crossref",
      "first-page": "7775",
      "DOI": "10.1128/MCB.21.22.7775-7786.2001",
      "article-title": "N-terminal domains of the human telomerase catalytic subunit required for enzyme activity in vivo",
      "volume": "21",
      "author": "Armbruster",
      "year": "2001",
      "journal-title": "Mol. Cell. Biol."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib23",
      "doi-asserted-by": "crossref",
      "first-page": "866",
      "DOI": "10.1038/346866a0",
      "article-title": "Telomere reduction in human colorectal carcinoma and with ageing",
      "volume": "346",
      "author": "Hastie",
      "year": "1990",
      "journal-title": "Nature"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib24",
      "doi-asserted-by": "crossref",
      "first-page": "203",
      "DOI": "10.1038/ng1084",
      "article-title": "Extensive allelic variation and ultrashort telomeres in senescent human cells",
      "volume": "33",
      "author": "Baird",
      "year": "2003",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib25",
      "doi-asserted-by": "crossref",
      "first-page": "3582",
      "DOI": "10.1182/blood.V91.10.3582",
      "article-title": "Progressive telomere shortening in aplastic anemia",
      "volume": "91",
      "author": "Ball",
      "year": "1998",
      "journal-title": "Blood"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib26",
      "doi-asserted-by": "crossref",
      "first-page": "6234",
      "DOI": "10.1128/MCB.22.17.6234-6246.2002",
      "article-title": "C-terminal regions of the human telomerase catalytic subunit essential for in vivo enzyme activity",
      "volume": "22",
      "author": "Banik",
      "year": "2002",
      "journal-title": "Mol. Cell. Biol."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib27",
      "doi-asserted-by": "crossref",
      "first-page": "4059",
      "DOI": "10.1093/nar/gkg437",
      "article-title": "The C terminus of the human telomerase reverse transcriptase is a determinant of enzyme processivity",
      "volume": "15",
      "author": "Huard",
      "year": "2003",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib28",
      "doi-asserted-by": "crossref",
      "first-page": "2388",
      "DOI": "10.1101/gad.13.18.2388",
      "article-title": "Telomere shortening and apoptosis in telomerase-inhibited human tumor cells",
      "volume": "13",
      "author": "Zhang",
      "year": "1999",
      "journal-title": "Genes Dev."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib29",
      "doi-asserted-by": "crossref",
      "first-page": "940",
      "DOI": "10.1086/374565",
      "article-title": "Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome",
      "volume": "72",
      "author": "Zhang",
      "year": "2003",
      "journal-title": "Am. J. Hum. Genet."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib30",
      "doi-asserted-by": "crossref",
      "first-page": "16998",
      "DOI": "10.1073/pnas.262663599",
      "article-title": "A molecular switch underlies a human telomerase disease",
      "volume": "99",
      "author": "Comolli",
      "year": "2002",
      "journal-title": "Proc. Natl. Acad. Sci. U. S. A."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib31",
      "doi-asserted-by": "crossref",
      "first-page": "1361",
      "DOI": "10.1016/S1097-2765(03)00196-5",
      "article-title": "Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs",
      "volume": "11",
      "author": "Fu",
      "year": "2003",
      "journal-title": "Mol. Cell"
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib32",
      "doi-asserted-by": "crossref",
      "first-page": "6849",
      "DOI": "10.1128/MCB.23.19.6849-6856.2003",
      "article-title": "Comprehensive structure\u2013function analysis of the core domain of human telomerase RNA",
      "volume": "23",
      "author": "Ly",
      "year": "2003",
      "journal-title": "Mol. Cell. Biol."
    },
    {
      "key": "10.1016/j.bcmd.2004.12.008_bib33",
      "doi-asserted-by": "crossref",
      "first-page": "3936",
      "DOI": "10.1182/blood-2004-05-1829",
      "article-title": "The effect on telomerase activity of telomerase RNA (TERC) mutations found in dyskeratosis congenita and aplastic anemia",
      "volume": "104",
      "author": "Marrone",
      "year": "2004",
      "journal-title": "Blood"
    }
  ],
  "container-title": "Blood Cells, Molecules, and Diseases",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://api.elsevier.com/content/article/PII:S1079979605000306?httpAccept=text/xml",
      "content-type": "text/xml",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://api.elsevier.com/content/article/PII:S1079979605000306?httpAccept=text/plain",
      "content-type": "text/plain",
      "content-version": "vor",
      "intended-application": "text-mining"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2020,
        4,
        7
      ]
    ],
    "date-time": "2020-04-07T01:45:41Z",
    "timestamp": 1586223941000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://linkinghub.elsevier.com/retrieve/pii/S1079979605000306"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2005,
        5
      ]
    ]
  },
  "references-count": 33,
  "journal-issue": {
    "issue": "3",
    "published-print": {
      "date-parts": [
        [
          2005,
          5
        ]
      ]
    }
  },
  "alternative-id": [
    "S1079979605000306"
  ],
  "URL": "http://dx.doi.org/10.1016/j.bcmd.2004.12.008",
  "relation": {},
  "ISSN": [
    "1079-9796"
  ],
  "subject": [],
  "container-title-short": "Blood Cells, Molecules, and Diseases",
  "published": {
    "date-parts": [
      [
        2005,
        5
      ]
    ]
  }
}