dyskeratosis congenita

Summary

Summary: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

Top Publications

  1. ncbi A telomerase component is defective in the human disease dyskeratosis congenita
    J R Mitchell
    Department of Molecular and Cell Biology, University of California, Berkeley 94720 3204, USA
    Nature 402:551-5. 1999
  2. pmc Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells
    Luis F Z Batista
    Department of Medicine, Stanford University School of Medicine, Stanford, California 94305, USA
    Nature 474:399-402. 2011
  3. pmc Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
    Bari J Ballew
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd EPS 7018, Rockville, MD 20892, USA
    Hum Genet 132:473-80. 2013
  4. ncbi A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization
    Tamara C Pereboom
    Hubrecht Institute, Koninklijke Nederlandse Akademie van Wetenschappen and Universitair Medisch Centrum Utrecht, Uppsalalaan 8, Utrecht, The Netherlands
    Blood 118:5458-65. 2011
  5. pmc Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing
    Ying Zhang
    Laboratory of Chemical Genomics, Shenzhen Graduate School, Peking University, Shenzhen, China
    PLoS ONE 7:e30188. 2012
  6. ncbi Dyskeratosis congenita
    Inderjeet Dokal
    Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    Hematology Am Soc Hematol Educ Program 2011:480-6. 2011
  7. pmc Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
    Mary Armanios
    Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 102:15960-4. 2005
  8. pmc Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
    Suneet Agarwal
    Division of Hematology Oncology, Children s Hospital Boston, Massachusetts 02115, USA
    Nature 464:292-6. 2010
  9. pmc Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20852 7231, USA
    Haematologica 97:353-9. 2012
  10. pmc TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
    Amanda J Walne
    Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, United Kingdom
    Blood 112:3594-600. 2008

Detail Information

Publications218 found, 100 shown here

  1. ncbi A telomerase component is defective in the human disease dyskeratosis congenita
    J R Mitchell
    Department of Molecular and Cell Biology, University of California, Berkeley 94720 3204, USA
    Nature 402:551-5. 1999
    The X-linked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in the gene encoding dyskerin...
  2. pmc Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells
    Luis F Z Batista
    Department of Medicine, Stanford University School of Medicine, Stanford, California 94305, USA
    Nature 474:399-402. 2011
    ..Whether undifferentiated iPSCs themselves can be used to probe disease mechanisms is uncertain. Dyskeratosis congenita is characterized by defective maintenance of blood, pulmonary tissue and epidermal tissues and is caused ..
  3. pmc Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
    Bari J Ballew
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd EPS 7018, Rockville, MD 20892, USA
    Hum Genet 132:473-80. 2013
    b>Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere biology...
  4. ncbi A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization
    Tamara C Pereboom
    Hubrecht Institute, Koninklijke Nederlandse Akademie van Wetenschappen and Universitair Medisch Centrum Utrecht, Uppsalalaan 8, Utrecht, The Netherlands
    Blood 118:5458-65. 2011
    b>Dyskeratosis congenita (DC) is a bone marrow failure disorder characterized by shortened telomeres, defective stem cell maintenance, and highly heterogeneous phenotypes affecting predominantly tissues that require high rates of turnover...
  5. pmc Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing
    Ying Zhang
    Laboratory of Chemical Genomics, Shenzhen Graduate School, Peking University, Shenzhen, China
    PLoS ONE 7:e30188. 2012
    b>Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome in which hematopoietic defects are the main cause of mortality...
  6. ncbi Dyskeratosis congenita
    Inderjeet Dokal
    Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    Hematology Am Soc Hematol Educ Program 2011:480-6. 2011
    b>Dyskeratosis congenita (DC) is a multisystem inherited syndrome exhibiting marked clinical and genetic heterogeneity. In its classic form, it is characterized by mucocutaneous abnormalities, BM failure, and a predisposition to cancer...
  7. pmc Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
    Mary Armanios
    Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 102:15960-4. 2005
    b>Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations...
  8. pmc Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
    Suneet Agarwal
    Division of Hematology Oncology, Children s Hospital Boston, Massachusetts 02115, USA
    Nature 464:292-6. 2010
    Patients with dyskeratosis congenita (DC), a disorder of telomere maintenance, suffer degeneration of multiple tissues...
  9. pmc Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20852 7231, USA
    Haematologica 97:353-9. 2012
    b>Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology.
  10. pmc TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
    Amanda J Walne
    Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, United Kingdom
    Blood 112:3594-600. 2008
    b>Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and a predisposition to cancer. The genetic basis of DC remains unknown in more than 60% of patients...
  11. pmc Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita
    Cristian Bellodi
    School of Medicine and Department of Urology, Helen Diller Family Comprehensive Center, University of California, San Francisco, CA, USA
    EMBO J 29:1865-76. 2010
    ..One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, encoding for an enzyme that modifies ribosomal RNA, is found to be mutated...
  12. pmc Cancer in dyskeratosis congenita
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health DHHS, 6120 Executive Blvd, Executive Plaza South, Rockville, MD 20852 7231, USA
    Blood 113:6549-57. 2009
    b>Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this disorder of telomere biology has not been described...
  13. pmc Short telomeres are sufficient to cause the degenerative defects associated with aging
    Mary Armanios
    Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 85:823-32. 2009
    ..components lead to telomere shortening and progressive bone marrow failure in the premature aging syndrome dyskeratosis congenita. Short telomeres are also acquired with aging, yet the role that they play in mediating age-related ..
  14. pmc Mutations in the telomere capping complex in bone marrow failure and related syndromes
    Amanda J Walne
    Centre for Paediatrics, Barts, UK
    Haematologica 98:334-8. 2013
    b>Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance...
  15. pmc Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Am J Hum Genet 90:426-33. 2012
    ..of mutant TERC (telomerase RNA component) alleles in six patients from four families affected by dyskeratosis congenita (DC)...
  16. pmc Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita
    Hua He
    Department of Genetics, The M D Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA
    Mol Cell Biol 29:229-40. 2009
    ..Interestingly, these phenotypes closely resemble those found in the human disease dyskeratosis congenita (DC), an inherited syndrome characterized by bone marrow failure, hyperpigmentation, and nail dystrophy...
  17. pmc Dyskeratosis congenita as a disorder of telomere maintenance
    Nya D Nelson
    Department of Molecular and Human Genetics, Texas Children s Hospital, Houston, TX 77030, USA
    Mutat Res 730:43-51. 2012
    Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and ..
  18. pmc The p53/p21(WAF/CIP) pathway mediates oxidative stress and senescence in dyskeratosis congenita cells with telomerase insufficiency
    Erik R Westin
    Interdisciplinary Program in Genetics, University of Iowa, Iowa City, Iowa 52242, USA
    Antioxid Redox Signal 14:985-97. 2011
    ..genes for telomere binding proteins or components of telomerase give rise to the premature aging disorder dyskeratosis congenita (DC), which is characterized by extremely short telomeres and an aging phenotype...
  19. pmc X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
    Am J Hum Genet 65:50-8. 1999
    b>Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia...
  20. pmc Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy
    Maria M Gramatges
    Section of Hematology Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Tex
    Transl Res 162:353-63. 2013
    ..and malignancy are 2 life-threatening disease manifestations in the inherited telomere biology disorder dyskeratosis congenita. We provide an overview of basic telomere structure and maintenance...
  21. pmc Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
    Amanda J Walne
    Centre for Paediatrics, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, UK
    Am J Hum Genet 92:448-53. 2013
    b>Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance...
  22. pmc Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment
    Bai Wei Gu
    Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO, USA
    Aging Cell 10:338-48. 2011
    Mutations in DKC1, encoding telomerase associated protein dyskerin, cause X-linked dyskeratosis congenita (DC), a bone marrow (BM) failure, and cancer susceptibility syndrome...
  23. ncbi Short telomeres, even in the presence of telomerase, limit tissue renewal capacity
    Ling Yang Hao
    Department of Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Cell 123:1121-31. 2005
    Autosomal-dominant dyskeratosis congenita is associated with heterozygous mutations in telomerase. To examine the dosage effect of telomerase, we generated a line of mTR+/- mice on the CAST/EiJ background, which has short telomeres...
  24. ncbi Telomerase in the human organism
    Kathleen Collins
    Department of Molecular and Cell Biology, University of California at Berkeley, Berkeley, California, CA 94720 3204, USA
    Oncogene 21:564-79. 2002
    ..We discuss how our current perspectives on telomerase function could be applied to improving human health...
  25. ncbi X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    N S Heiss
    Deutsches Krebsforschungszentrum, Department of Molecular Genome Analysis, Heidelberg, Germany
    Nat Genet 19:32-8. 1998
    X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28...
  26. pmc The effect of TERC haploinsufficiency on the inheritance of telomere length
    Fred Goldman
    Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 102:17119-24. 2005
    ..Loss of telomere function causes cell-cycle arrest or cell death. Autosomal dominant dyskeratosis congenita (AD DC), a rare inherited bone marrow failure syndrome, is caused by mutations in TERC, the RNA component ..
  27. pmc Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA compon
    Francoise A Gourronc
    Department of Microbiology, University of Iowa, Iowa City, IA, USA
    Exp Dermatol 19:279-88. 2010
    b>Dyskeratosis congenita (DC) is characterized by the triad of reticulate skin pigmentation, nail dystrophy and leukoplakia...
  28. ncbi Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita
    A C Dietz
    Division of Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA
    Bone Marrow Transplant 46:98-104. 2011
    b>Dyskeratosis congenita (DC) is characterized by reticular skin pigmentation, oral leukoplakia and abnormal nails. Patients with DC have very short telomeres and approximately one-half have mutations in telomere biology genes...
  29. pmc Dyskeratosis congenita and the DNA damage response
    Michael Kirwan
    Centre for Paediatrics, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK
    Br J Haematol 153:634-43. 2011
    b>Dyskeratosis congenita (DC) is a heterogeneous bone marrow failure disorder with known mutations in components of telomerase and telomere shelterin...
  30. pmc CTC1 Mutations in a patient with dyskeratosis congenita
    Rachel B Keller
    Division of Hematology Oncology, Stem Cell Program, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatr Blood Cancer 59:311-4. 2012
    b>Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized...
  31. pmc Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita
    Franklin Zhong
    Department of Medicine, Stanford University School of Medicine, Stanford, California 94305, USA
    Genes Dev 25:11-6. 2011
    b>Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short telomeres and impaired stem cell function...
  32. pmc Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20852, USA
    Int J Cancer 133:1513-5. 2013
    Patients with Fanconi anemia (FA) and dyskeratosis congenita (DC) are at high risk of head and neck squamous cell carcinomas (HNSCC) and anogenital squamous cell carcinomas (SCC)...
  33. pmc DNA damage responses and oxidative stress in dyskeratosis congenita
    Larisa Pereboeva
    Department of Medicine, Division of Hematology Oncology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America
    PLoS ONE 8:e76473. 2013
    b>Dyskeratosis congenita (DC) is an inherited multisystem disorder of premature aging, cancer predisposition, and bone marrow failure caused by selective exhaustion of highly proliferative cell pools...
  34. pmc Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita
    Fabian Beier
    Telomere and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    Blood 120:2990-3000. 2012
    ..b>Dyskeratosis congenita is characterized by a mucocutaneous triad, bone marrow failure (BMF), and presence of short telomeres ..
  35. ncbi Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability
    Tangui Le Guen
    Inserm U768, Paris, France
    Hum Mol Genet 22:3239-49. 2013
    Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects...
  36. pmc Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita
    Ekaterini T Tsilou
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 117:615-22. 2010
    ..The 4 most frequent syndromes are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS)...
  37. pmc The relationship between DNA methylation and telomere length in dyskeratosis congenita
    Shahinaz M Gadalla
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
    Aging Cell 11:24-8. 2012
    ..Specifically, methylation at subtelomeres is associated with changes in TL in vitro and in mouse models. Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by exceedingly short telomeres and ..
  38. doi Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
    Lina Basel-Vanagaite
    Haematologica 93:943-4. 2008
  39. pmc Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
    Blood 110:1439-47. 2007
    b>Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres...
  40. pmc Dyskeratosis congenita
    Monica Bessler
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    FEBS Lett 584:3831-8. 2010
    b>Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure (BMF) syndrome associated with distinct mucocutaneous features...
  41. pmc Dyskeratosis congenita: the first NIH clinical research workshop
    Sharon A Savage
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA
    Pediatr Blood Cancer 53:520-3. 2009
    b>Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure syndrome, characterized by abnormally short telomeres and mutations in telomere biology genes...
  42. ncbi Dyskeratosis congenita: telomerase, telomeres and anticipation
    Anna Marrone
    Department of Haematology, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 0NN, UK
    Curr Opin Genet Dev 15:249-57. 2005
    b>Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity...
  43. pmc Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome
    Fabien Touzot
    Institut National de la Sante et de la Recherche Medicale, U768, 75015 Paris, France
    Proc Natl Acad Sci U S A 107:10097-102. 2010
    ..Impaired telomere protection in humans causes dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome, characterized by premature aging, bone marrow failure, and ..
  44. pmc Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome
    Amanda J Walne
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, 4 Newark Street, London, UK
    Hum Mol Genet 19:4453-61. 2010
    b>Dyskeratosis congenita (DC) is an inherited poikiloderma which in addition to the skin abnormalities is typically associated with nail dystrophy, leucoplakia, bone marrow failure, cancer predisposition and other features...
  45. pmc Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood
    G S Sasa
    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Clin Genet 81:470-8. 2012
    b>Dyskeratosis congenita (DC) is a telomere biology disorder characterized by a mucocutaneous triad, aplastic anemia, and predisposition to cancer...
  46. pmc Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
    Erin M Parry
    Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, 1650 Orleans St, CRB 186, Baltimore, MD 21287, USA
    J Med Genet 48:327-33. 2011
    b>Dyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres...
  47. ncbi Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
    Bari J Ballew
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd EPS 7018, Rockville, MD 20892, USA
    Expert Rev Hematol 6:327-37. 2013
    b>Dyskeratosis congenita (DC) is a cancer-prone inherited bone marrow failure syndrome caused by aberrant telomere biology...
  48. pmc TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase
    Dong Yang
    Verna and Mars McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Biol Chem 286:23022-30. 2011
    b>Dyskeratosis congenita (DC) is a progressive and heterogeneous congenital disorder that affects multiple systems and is characterized by bone marrow failure and a triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia...
  49. pmc Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene
    Jonathan K Alder
    Department of Oncology and Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland
    Hum Mutat 34:1481-5. 2013
    b>Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance accounts for half the cases, and is thought to predominantly manifest in childhood as bone marrow failure...
  50. ncbi A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells
    Rosario Machado-Pinilla
    Translational Oncology Unit, Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas Universidad Autonoma de Madrid, c Arturo Duperier 4, Madrid, Spain
    Blood 111:2606-14. 2008
    Dyskerin gene is mutated in patients with X-linked dyskeratosis congenita (X-DC), which results in greatly reduced levels of telomerase activity...
  51. ncbi Telomere dysfunction and tumor suppression responses in dyskeratosis congenita: balancing cancer and tissue renewal impairment
    Fernando Pires Hartwig
    Oncology Research Group, Technology Development Center Biotechnology Unit, Federal University of Pelotas, University Campus, Building 19, Mail Box 354, Pelotas, RS 96010 900, Brazil
    Ageing Res Rev 12:642-52. 2013
    b>Dyskeratosis congenita (DC) encompasses a large spectrum of diseases and clinical manifestations generally related to premature aging, including bone marrow failure and cancer predisposition...
  52. ncbi A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency
    Samuel Goldfarb
    Division of Pulmonology, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Pediatr Pulmonol 48:91-3. 2013
    b>Dyskeratosis congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow (BM) failure, somatic abnormalities, and predisposition to malignancy, resulting from mutations in proteins involved in maintenance of telomeres...
  53. pmc Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain
    Rosario Machado-Pinilla
    Instituto de Investigaciones Biomedicas CSIC UAM, IdiPAZ, Madrid, Spain
    Clin Transl Oncol 14:755-63. 2012
    The predominant X-linked form of dyskeratosis congenita results from mutations in dyskerin, a protein required for ribosomal RNA modification that is also a component of the telomerase complex...
  54. ncbi Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation
    Takeshi Isoda
    Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan
    J Pediatr Hematol Oncol 35:e178-82. 2013
    Hematopoietic stem cell transplantation (HSCT) for dyskeratosis congenita (DC) is challenging due to severe treatment-related adverse effects. Development of pulmonary fibrosis or veno-occlusive disease is well described in DC...
  55. pmc Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita
    Shuang Li
    Department of Biochemistry and Molecular Biology, College of Life Sciences, Beijing Normal University, Beijing, China
    EMBO J 30:5010-20. 2011
    ..The structure shows that dyskeratosis congenita mutations found in the CTE of human Cbf5 likely interfere with Shq1 binding...
  56. pmc POT of gold: modeling dyskeratosis congenita in the mouse
    Chantal Autexier
    Department of Anatomy and Cell Biology and Department of Medicine, McGill University, Montreal, Quebec H3T 1E2, Canada
    Genes Dev 22:1731-6. 2008
    b>Dyskeratosis congenita (DC) is a rare syndrome, characterized by cutaneous abnormalities and premature death caused by bone marrow failure. In this issue of Genes & Development, Hockemeyer and colleagues (pp...
  57. ncbi High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita
    J Carrillo
    Instituto de Investigaciones Biomédicas de Madrid CSIC UAM, IDIPaz Biomarkers and Experimental Therapeutics Group, C Arturo Duperier, 4, 28029 Madrid and CIBER de Enfermedades Raras, Valencia, Spain
    Blood Cells Mol Dis 49:140-6. 2012
    b>Dyskeratosis congenita (DC) is a rare inherited bone-marrow failure syndrome with high clinical heterogeneity...
  58. ncbi Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita
    Andrew Yoon
    Human Genetics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
    Science 312:902-6. 2006
    ..DKC1 is mutated in people with X-linked dyskeratosis congenita (X-DC), a disease characterized by bone marrow failure, skin abnormalities, and increased susceptibility ..
  59. pmc Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene
    Hong yan DU
    Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Blood 111:1128-30. 2008
    ..components TERT, the reverse transcriptase, and TERC, the RNA template, cause autosomal dominant dyskeratosis congenita due to telomere shortening...
  60. ncbi Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
    Deniz Aslan
    Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey
    Int Ophthalmol 32:615-22. 2012
    The aim of this study is to present the limbal stem cell deficiency (LSCD) cases with features resembling dyskeratosis congenita (DC), a heritable disease of stem cells principally caused by telomerase deficiency...
  61. ncbi Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience
    S Jyonouchi
    Division of Allergy and Immunology, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Pediatr Allergy Immunol 22:313-9. 2011
    b>Dyskeratosis Congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and cancer predisposition resulting from defective telomere maintenance...
  62. ncbi Recent progress in dyskeratosis congenita
    Nobuhiro Nishio
    Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Shouwa ku, Nagoya, 466 8550, Japan
    Int J Hematol 92:419-24. 2010
    b>Dyskeratosis congenita (DC) is an inherited disease associated with nail dystrophy, abnormal skin pigmentation, oral leukoplakia, bone marrow failure and a predisposition to cancer...
  63. ncbi Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita
    Fabien Touzot
    INSERM, U768, Paris, France
    J Allergy Clin Immunol 129:473-82, 482.e1-3. 2012
    ..In human subjects telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by progressive bone marrow failure, accelerated aging, and ..
  64. pmc The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita
    Xi Lei Zeng
    University of British Columbia, Vancouver, BC, Canada
    Hum Mol Genet 21:721-9. 2012
    X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous...
  65. pmc Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita
    Petar N Grozdanov
    Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Hum Mol Genet 18:4546-51. 2009
    X-linked dyskeratosis congenita (DC) is a rare bone marrow failure syndrome caused by mostly missense mutations in the pseudouridine synthase NAP57 (dyskerin/Cbf5)...
  66. ncbi The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain
    Yaroslava G Yingling
    Center for Cancer Research Nanobiology Program, National Cancer Institute, NCI Frederick National Institutes of Health, Building 469, Room 150, Frederick, MD 21702, USA
    J Biomol Struct Dyn 24:303-20. 2007
    ..Autosomal dominant dyskeratosis congenita (DKC) is an inherited disease that is linked to mutations in telomerase RNA and impairs telomerase ..
  67. ncbi Pulmonary involvement in a patient with dyskeratosis congenita
    Sebnem Kilic
    Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
    Pediatr Int 45:740-2. 2003
  68. pmc X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation
    W F Safa
    Department of Internal Medicine, Tawam Hospital, Al Ain, United Arab Emirates
    Thorax 56:891-4. 2001
    b>Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients...
  69. ncbi Dyskeratosis congenita associated with three malignancies
    C Baykal
    Istanbul University, Istanbul Medical School, Department of Dermatology Istanbul, Turkey
    J Eur Acad Dermatol Venereol 17:216-8. 2003
    b>Dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death...
  70. ncbi Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas
    M Castori
    Br J Dermatol 156:406-8. 2007
  71. ncbi Dyskeratosis congenita and telomerase
    Monica Bessler
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Curr Opin Pediatr 16:23-8. 2004
    b>Dyskeratosis congenita, a rare condition characterized by mucocutaneous abnormalities and bone marrow failure, is caused by inherited defects in the telomerase complex...
  72. pmc Syndromes of telomere shortening
    Mary Armanios
    Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21285, USA
    Annu Rev Genomics Hum Genet 10:45-61. 2009
    ..Telomere-mediated disease was initially identified in the context of dyskeratosis congenita, a rare syndrome of premature aging...
  73. pmc Advances in the understanding of dyskeratosis congenita
    Amanda J Walne
    Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Br J Haematol 145:164-72. 2009
    b>Dyskeratosis congenita (DC) is a rare inherited syndrome exhibiting marked clinical and genetic heterogeneity. It is characterised by mucocutaneous abnormalities, bone marrow failure and a predisposition to cancer...
  74. pmc Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
    Br J Haematol 150:179-88. 2010
    Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) comprise major inherited bone marrow failure syndromes (IBMFS)...
  75. ncbi Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan
    K Amarasinghe
    Bone Marrow Transplant 40:913-4. 2007
  76. ncbi Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines
    Lorenzo Montanaro
    Dipartimento di Patologia Sperimentale, Universita degli Studi di Bologna, Bologna, Italy
    J Invest Dermatol 118:193-8. 2002
    X-linked dyskeratosis congenita is a rare inherited disorder mainly characterized by progressive changes in proliferating epidermal, mucosal, and bone marrow tissues that commonly emerge after 10 y of life...
  77. pmc Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
    Tom Vulliamy
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London E12AT, United Kingdom
    Proc Natl Acad Sci U S A 105:8073-8. 2008
    b>Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities, including early greying, dental loss, osteoporosis, and malignancy...
  78. ncbi Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita
    L G Vuong
    Medizinische Klinik m S Hämatologie und Onkologie, Universitatsmedizin Berlin, Germany
    Acta Haematol 124:200-3. 2010
    b>Dyskeratosis congenita (DC) is a rare inherited disorder characterized by the triad of nail dystrophy, mucosal leukoplakia, and reticular pigmentation...
  79. pmc The genetics of dyskeratosis congenita
    Philip J Mason
    Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, USA
    Cancer Genet 204:635-45. 2011
    b>Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with characteristic mucocutaneous features and a variable series of other somatic abnormalities...
  80. ncbi Telomeres in dyskeratosis congenita
    Jerry W Shay
    Nat Genet 36:437-8. 2004
  81. ncbi Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Hum Genet 108:299-303. 2001
    b>Dyskeratosis congenita (DC) is characterised by the failure of those tissues that are rapidly dividing in the adult, particularly the skin and haemopoietic system. The X-linked form of the disease is caused by mutations in the DKC1 gene...
  82. ncbi Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients
    Michael Kirwan
    Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Br J Haematol 144:771-81. 2009
    b>Dyskeratosis congenita (DC) is an inherited multi-system disorder characterised by muco-cutaneous abnormalities, bone marrow failure and a predisposition to malignancy...
  83. ncbi Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
    Hiroki Yamaguchi
    Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, 10 Center Dr, MSC 1652, Bethesda, MD 20892 1652, USA
    Blood 102:916-8. 2003
    Mutations in the human telomerase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC)...
  84. pmc TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
    Hong yan DU
    Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Blood 113:309-16. 2009
    b>Dyskeratosis congenita (DC) is a rare inherited form of bone marrow failure (BMF) caused by mutations in telomere maintaining genes including TERC and TERT...
  85. ncbi The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    T Vulliamy
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College School of Science, Technology and Medicine, Hammersmith Hospital, DuCane Road, London W12 ONN, UK
    Nature 413:432-5. 2001
    b>Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy...
  86. ncbi Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome
    R Yaghmai
    Institute of Genetic Medicine and the Department of Dermatology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 4922, USA
    J Pediatr 136:390-3. 2000
    X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia...
  87. ncbi Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita
    Judy M Y Wong
    Department of Molecular and Cell Biology, University of California, Berkeley 94720 3204, USA
    Hum Genet 115:448-55. 2004
    Compromised renewal and eventual failure of the hematopoietic system in dyskeratosis congenita (DC) have been proposed to arise from a deficiency in telomerase function...
  88. ncbi Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man
    C Reimann
    J Eur Acad Dermatol Venereol 22:897-8. 2008
  89. ncbi Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    T J Vulliamy
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, 4th Floor Commonwealth Building, Du Cane Road, London, W12 ONN, United Kingdom
    Blood Cells Mol Dis 27:353-7. 2001
    b>Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which patients undergo premature ageing and have a predisposition to malignancy...
  90. ncbi Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen
    Bruno Nobili
    Br J Haematol 119:573-4. 2002
  91. ncbi Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification
    Davide Ruggero
    Molecular Biology Program, Department of Pathology, Memorial Sloan Kettering Cancer Center, Sloan Kettering Institute, 1275 York Avenue, New York, NY 10021, USA
    Science 299:259-62. 2003
    Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by premature aging and increased tumor susceptibility. The DKC1 protein binds to the box H + ACA small nucleolar RNAs and the RNA component of telomerase...
  92. ncbi Usual interstitial pneumonia complicating dyskeratosis congenita
    James P Utz
    Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mayo Clin Proc 80:817-21. 2005
    b>Dyskeratosis congenita (DC) is a rare disorder characterized by skin hyperpigmentation, nail dystrophy, and leukoplakia of mucous membranes...
  93. ncbi Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita
    Matt Knudson
    Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
    Blood 105:682-8. 2005
    b>Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by abnormal skin pigmentation and nail dystrophy...
  94. ncbi [Dyskeratosis congenita and diffuse lung fibrosis]
    C Hafsaoui
    Service de Medecine Interne, CHU Minjoz, 25000 Besancon, France
    Rev Med Interne 25:395-6. 2004
  95. ncbi Telomerase RNA structure and function: implications for dyskeratosis congenita
    Jiunn Liang Chen
    Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Trends Biochem Sci 29:183-92. 2004
  96. ncbi Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs
    Christian Trahan
    Département des sciences biologiques and Centre de recherche BioMed, Universite du Quebec a Montreal, Montreal, QC, Canada H3C 3P8
    Hum Mol Genet 19:825-36. 2010
    b>Dyskeratosis congenita (DC) is a rare genetic syndrome that gives rise to a variety of disorders in affected individuals. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology...
  97. pmc Dyskeratosis congenita
    Sharon A Savage
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA
    Hematol Oncol Clin North Am 23:215-31. 2009
    b>Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic ..
  98. ncbi Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita
    T Gungor
    Division of Immunology, University Children s Hospital Zurich, Switzerland
    Bone Marrow Transplant 31:407-10. 2003
    We describe the treatment of a 10-year-old girl with autosomal recessive Dyskeratosis congenita (DC), neutropenia, thrombocytopenia and combined immunodeficiency by nonmyeloablative hematopoietic stem cell transplantation...
  99. ncbi Dyskeratosis congenita: dental management of a medically complex child
    Esti Davidovich
    Department of Pediatric Dentistry, The Hebrew University Hadassah School of Dental Medicine, Jerusalem, Israel
    Pediatr Dent 27:244-8. 2005
    b>Dyskeratosis congenita (DKC) is a rare syndrome characterized by cutaneous hyperpigmentation, nail dystrophy, leukoplakia, and pancytopenia...
  100. pmc Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome
    Noa Lamm
    Department of Genetics, The Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Givat Ram, Jerusalem, Israel
    PLoS ONE 4:e5666. 2009
    ..However, not only telomere shortening, but also damaged telomere structure, can cause telomere uncapping. Dyskeratosis Congenita (DC) and its severe form Hoyeraal-Hreidarsson Syndrome (HHS) are genetic disorders mainly characterized by ..
  101. pmc A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice
    Bai Wei Gu
    Department of Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 105:10173-8. 2008
    ..The same pathway is induced in response to DNA damage. DKC1 mutations in the disease dyskeratosis congenita are thought to act via this mechanism, causing growth defects in proliferative tissues through telomere ..

Research Grants51

  1. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2013
    ..One focus of our research is dyskeratosis congenita (DC), a rare inherited form of BMF associated with a classic triad of mucocutaneous features including ..
  2. Studying a Human Stem Cell Disease Using iPS Technology
    Steven E Artandi; Fiscal Year: 2010
    ..b>Dyskeratosis congenita (DC) is an inherited form of bone marrow failure, in which blood stem cell function is markedly impaired...
  3. Defining the telomerase holoenzyme in progenitor cells with aging
    Steven E Artandi; Fiscal Year: 2013
    ..Telomerase subunits are mutated in certain human genetic diseases, such as dyskeratosis congenita, in which telomere shortening is accelerated and tissue progenitor cells are dysfunctional...
  4. Role of dyskerin in oral epithelial homeostasis
    Faizan Alawi; Fiscal Year: 2013
    ..To that end, several genetic diseases, including X-linked dyskeratosis congenita (DC), affect the oral mucosal tissues. X-linked DC is caused by mutations in the DKC1 (dyskerin) gene...
  5. DNA-PKcs Phosphorylation on Hematopoietic Stem Cells Genome Maintenance
    Benjamin Ping Chi Chen; Fiscal Year: 2013
    ..HSC loss and hyperpigmented skin are the main features found in human dyskeratosis congenita (DC) syndrome and in mice double knockout of protection of telomeres 1b (POT1b) and telomerase RNA (mTR) ..
  6. Identification, Discovery, and Public Archiving of RNA Structural Motifs
    Shaojie Zhang; Fiscal Year: 2013
    ..motif in small nucleolar RNA (snoRNA) will prevent it from recruiting the L7Ae protein, and thus lead to Dyskeratosis congenita and Prader-Willi syndrome...
  7. Regulation and Function of hTERT in Human Cells
    William C Hahn; Fiscal Year: 2013
    ..for catalytic activity, TERT and TERC, are found in diseases characterized by stem cell failure including dyskeratosis congenita, subsets of aplastic anemia and idiopathic pulmonary fibrosis...
  8. Human Pluripotent Stem Cell and Progenitor Models of Cardiac and Blood Diseases
    LEONARD IRA ZON; Fiscal Year: 2013
    ..human IPS cells for genetic blood diseases that: disrupt genomic stability (Fanconi's anemia and Dyskeratosis congenita), specify aberrant nucleolar or ribosomal proteins (Shwachman-Bodian-Diamond Syndrome and Diamond-Blackfan ..
  9. Telomere Shortening and Stem Cell Maintenance
    Mary Y Armanios; Fiscal Year: 2010
    ..Recently, families with autosomal dominant dyskeratosis congenita have been found to have mutations in the telomerase RNA gene...
  10. Elucidating the role of TIN2L at the telomere and in dyskeratosis congenita
    Nya D Nelson; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Dyskeratosis congenita (DC) is a bone marrow failure and cancer predisposition syndrome...
  11. Studying a bone marrow failure disease using patient-specific iPS cells
    LUIS ZIRNBERGER BATISTA; Fiscal Year: 2013
    ..stem cells (iPSCs) as a platform for the development of novel therapies for patients suffering with dyskeratosis congenita (DC), a bone-marrow failure syndrome that presents with poor life expectancy and multi-systemic tissue ..
  12. Functional Interactions of Telomere Protein with Human Telomerase
    THOMAS ROBERT CECH; Fiscal Year: 2013
    ..polymorphisms) of the hTERT gene that have been reported to be associated with diseases including dyskeratosis congenita, aplastic anemia, idiopathic pulmonary fibrosis, and cancer...
  13. Telomeres and Telomerase in Stem Cell Failure and Aging
    Carol W Greider; Fiscal Year: 2010
    ..The genetic disease dyskeratosis congenita is an example of a premature aging syndrome that likely involves stem cell failure...
  14. The Pathogenesis of Dyskeratosis Congenita
    Philip J Mason; Fiscal Year: 2013
    ....
  15. Biogenesis and Regulation of Human Telomerase
    Kathleen Collins; Fiscal Year: 2013
    ..telomerase RNP that underlie X-linked and autosomal dominant forms of the bone marrow failure syndrome dyskeratosis congenita. The Specific Aims of the next funding period address remaining gaps in knowledge about human telomerase ..
  16. Germline Telomere Biology Defects in Pediatric and Young Adult Acute Myeloid Leuk
    MARIA MONICA GRAMATGES; Fiscal Year: 2013
    ..Telomere biology disorders, including dyskeratosis congenita, are due to germline missense and truncating sequence mutations in telomerase-associated genes and are ..
  17. Use of aptamers in dissecting the HSF-regulated cancer-enabling network
    Hua Shi; Fiscal Year: 2012
    ..telomerase action are also associated with human disease as the resulting telomere shortening can lead to dyskeratosis congenita and pulmonary fibrosis...
  18. In Vitro Reconstitution and Biochemical Characterization of Yeast Telomerase
    KAREN ADELL LEWIS; Fiscal Year: 2012
    ..Dysregulation of telomerase leads to several human diseases, including cancer, aplastic anemia, dyskeratosis congenita, and idiopathic pulmonary fibrosis...
  19. Nucleophosmin and ribosomal dysfunction in hematologic diseases
    Pier Paolo Pandolfi; Fiscal Year: 2010
    ..evidence for ribosomal dysfunction in anemia-associated disorders, including Diamond-Blackfan anemia and dyskeratosis congenita, suggests that aberrant ribosome composition and function may play a role in disease development...
  20. Role of rRNA Modifications in Dyskeratosis Congenita and Translation Control
    Davide Ruggero; Fiscal Year: 2009
    The long-term objective of this proposal is to elucidate the molecular and cellular basis for X-linked Dyskeratosis Congenita (X-DC), an inherited disease characterized by early mortality due to bone marrow failure as well as increased ..
  21. Biogenesis of H/ACA Ribonucleoproteins
    U Thomas Meier; Fiscal Year: 2013
    ..aka dyskerin) is mutated in the predominant X-linked form of the inherited bone marrow failure syndrome dyskeratosis congenita. Although consisting of only five components, biogenesis of these particles is surprisingly complex ..
  22. Characterization of Immune Deficiency in Congenital Bone Marrow Failure Syndromes
    Troy R Torgerson; Fiscal Year: 2012
    ..Marrow Failure Syndromes (IBMFS) are a group of rare clinical disorders that include Fanconi anemia (FA), dyskeratosis congenita (DKC), Schwachman-Diamond syndrome (SDS), congenital amegakaryocytic thrombocytopenia, and others...
  23. Function and Dynamics of Tetrahymena Telomere Proteins
    Carolyn M Price; Fiscal Year: 2012
    ..telomerase action are also associated with human disease as the resulting telomere shortening can lead to dyskeratosis congenita and pulmonary fibrosis...
  24. Role of ribosome impairments in X-linked Dyskeratosis Congenita pathogenesis
    Davide Ruggero; Fiscal Year: 2013
    ..An important example is X-linked Dyskeratosis Congenita (X-DC), which is invariably associated with mutations in the DKC1 gene encoding for an enzyme that ..
  25. PSEUDOURIDINE SYNTHASES
    EUGENE MUELLER; Fiscal Year: 2009
    ..and eukaryotes, including the human enzyme dyskerin, the absence of which causes the X-linked disease dyskeratosis congenita. Pseudouridine residues in small nuclear RNA are required for pre-mRNA splicing, an essential function in ..
  26. Structure and Regulation of snoRNP Interaction with rRNA
    Hong Li; Fiscal Year: 2012
    ..The genetic disease dyskeratosis congenita (DC), which predisposes patients to epithelial cancers, results from mutations in telomerase RNA and two ..
  27. A Structure/Function Analysis of CTC1 Using Coats plus/DKC Mutations
    CHRISTOPHER G KASBEK; Fiscal Year: 2013
    ..basis of defects in the CTC1-STN1-TEN1 (CST) complex that lead to the human diseases Coats plus and dyskeratosis congenita (DKC). CST is associated with telomeres in a number of organisms including mammals...
  28. The Role of Telomere Shortening in MDS-AML Pathogenesis (resubmission)
    Mary Y Armanios; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Telomeres are essential for the maintenance of genomic integrity. Dyskeratosis congenita (DC) is a cancer- prone syndrome characterized by short telomeres...
  29. Molecular Cytology of Human Telomeres: Telomere protein
    Titia de Lange; Fiscal Year: 2013
    ..g. dyskeratosis congenita, anaplastic anemia)...
  30. MECHANISMS OF TELOMERE REPLICATION
    Carolyn M Price; Fiscal Year: 2013
    ..Moreover, mutations in the CTC1 subunit of CST cause dyskeratosis congenita and the neurological disorder Coats plus...
  31. Mechanistic Elucidation of RNA Modifying Enzymes
    Eugene G Mueller; Fiscal Year: 2013
    ..Mutation or deletion of one human pseudouridine synthase, dyskerin, leads to the disease dyskeratosis congenita, and the widespread occurrence and conservation of pseudouridine residues in RNA attests to their ..
  32. Shwachman-Diamond Syndrome: Molecular Pathogenesis
    Akiko Shimamura; Fiscal Year: 2012
    ..ribosome biogenesis underlie several inherited bone marrow failure syndromes: Diamond-Blackfan anemia, dyskeratosis congenita, cartilage-hair hypoplasia, and Shwachman-Diamond syndrome...
  33. Mechanism of the telomeric proliferation limit
    Titia de Lange; Fiscal Year: 2013
    ..This research is therefore expected to improve the understanding of telomere- related diseases, such as dyskeratosis congenita, and diminished organ function with aging in normal individuals...
  34. Role for DKC1 in cell proliferation and transformation
    Faizan Alawi; Fiscal Year: 2009
    ..Yet, the molecular mechanisms by which c-MYC induces cellular transformation remain poorly understood. The dyskeratosis congenita 1 (DKC1) gene is a component of two molecular pathways that are regulated by c-MYC...
  35. Role of RNA Silencing in Telomere Dynamics
    Zhixin Xie; Fiscal Year: 2009
    ..Defective telomere maintenance has been implicated in human diseases such as dyskeratosis congenita and cancer...
  36. CELL RESPONSE TO DNA DAMAGE BY UV AND OTHER MUTAGENS
    D Carter; Fiscal Year: 1980
    ..We are using cells from persons with dyskeratosis congenita and xeroderma pigmentosum and from their relatives...
  37. Development of a fish model for dyskeratosis congenita and cancer research
    JULIAN CHEN; Fiscal Year: 2009
    ..g. telomerase reverse transcriptase (TERT), have been genetically linked to human diseases such as dyskeratosis congenita (DKC) and aplastic anemia (AA) that have symptoms of bone marrow failure...
  38. A human somatic cell model for Dyskeratosis Congenita
    ERIC HENDRICKSON; Fiscal Year: 2008
    ..of human KARP-1 (Ku86 autoantigen related protein-1) as it relates to its role as a candidate gene for DC (dyskeratosis congenita)...
  39. MOLECULAR MECHANISM OF DYSKERATOSIS CONGENITA
    U Meier; Fiscal Year: 2008
    X-linked dyskeratosis congenita (DC) is caused by mutations in DKC1, the gene encoding NAP57 (aka dyskerin). DC is an often-fatal bone marrow failure syndrome and a complex multi-system disorder...
  40. Genomic Integrity, Aging, and Longevity
    Richard Cawthon; Fiscal Year: 2008
    ..Therefore, this research is likely to speed the development of medical interventions that slow aging and extend the duration of healthy adult life. [unreadable] [unreadable] [unreadable]..
  41. The Role of Telomeres and Telomerase in Cancer
    Jerry Shay; Fiscal Year: 2005
    ..abstract_text> ..
  42. TRANSLATIONAL CONTROL MEDIATED BY MRNA STRUCTURE
    Marilyn Kozak; Fiscal Year: 2002
    ..The reason why 40S ribosome/factor complexes protect "extra" sequences, which are accessible to RNase in 80S initiation complexes, will be studied. ..
  43. Telomeres and Ribosomes in Dyskeratosis Congenita
    Monica Bessler; Fiscal Year: 2008
    b>Dyskeratosis congenita (DC) is a rare inherited bone marrow failure (BMF) syndrome, characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia...
  44. Circulating osteogenic cells in aging and disease
    Robert Pignolo; Fiscal Year: 2007
    ..LONG-TERM OBJECTIVES: To define the role of BdACs as osteogenic cells with potential for use in diagnostic testing, cell replacement therapy, or as a target population for gene therapy. ..
  45. INACTIVATION OF THE PIGA GENE IN HEMATOPOIETIC STEM CELL
    Monica Bessler; Fiscal Year: 2002
    ..The findings could provide the scientific foundation of new therapeutic modalities for PNH and other bone marrow failure syndromes. ..
  46. ROLE OF THE PNH PHENOTYPE IN LEUKEMIC TRANSFORMATION
    Monica Bessler; Fiscal Year: 2005
    ..The availability of a mouse model for PNH will provide us with a powerful tool to test new therapeutic agents for the treatment of PNH, PNH/MDS, PNH,AML and possibly other clonal blood disorders. ..
  47. New Models of Human Cancer
    William Hahn; Fiscal Year: 2005
    ..Robert Weinberg and the unique resources of the Whitehead Institute to develop these new systems and to broaden my research experiences as I make the crucial transition to an independent investigator. ..
  48. Protein Signatures of Normal versus Paroxysmal Nocturnal Hemoglobinuria Platelets
    Monica Bessler; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  49. Ribosome Biogenesis in Diamond Blackfan Anemia
    Monica Bessler; Fiscal Year: 2007
    ....
  50. TELOMERE DYSFUNCTION, GENOMIC INSTABILITY AND CANCER
    Steven Artandi; Fiscal Year: 2005
    ..Transplantation experiments using this model will reveal if the effect on tumor biology is a cell autonomous one. ..
  51. Novel Functions for Telomerase Enzyme Complex in Vivo
    Steven Artandi; Fiscal Year: 2005
    ..Through analysis of a conditional knockout mouse, we will determine the role of endogenous telomerase in cells in culture and in stern/progenitor compartments in vivo. ..