Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia

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Items 101–200 of 725

1. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia
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2. InTERTpreting telomerase structure and function
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3. Telomere length in Hutchinson-Gilford Progeria Syndrome
   Michelle Leanna Decker, Elizabeth A. Chavez, Irma M. Vulto, Peter M. Lansdorp · 2009 · Mechanisms of Ageing and Development
4. Telomerase gene mutations are associated with cirrhosis formation
   Hartmann, Daniel, Srivastava, Ujala, Thaler, Michaela, Kleinhans, Karin N., N'Kontchou, Gisèle, Scheffold, Annika, Bauer, Kerstin, Kratzer, Ramona F., Kloos, Natalia, Katz, Sarah-Fee et al. · 2011 · Hepatology
5. Telomeropathies: An emerging spectrum disorder
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6. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
   Anna Marrone, Amanda J. Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard W. Beswick, Tom Vulliamy, Inderjeet S Dokal · 2007 · Blood
7. How Ribosomes Translate Cancer
   Sergey O. Sulima, Isabel Juliana Hofman, Kim De Keersmaecker, Jonathan D. Dinman · 2017 · Cancer Discovery
8. Inherited bone marrow failure syndromes
   Inderjeet S Dokal, Tom Vulliamy · 2010 · Haematologica
9. Advances in the understanding of dyskeratosis congenita
   Amanda J. Walne, Inderjeet S Dokal · 2009 · British Journal of Haematology
10. Human telomere biology: pitfalls of moving from the laboratory to epidemiology
    Aviv, Abraham, Valdes, Ana M, Spector, Tim D · 2006 · International Journal of Epidemiology
11. The molecular genetics of the telomere biology disorders
    Alison A. Bertuch · 2015 · RNA Biology
12. Cellular Mechanisms of Tissue Fibrosis. 7. New insights into the cellular mechanisms of pulmonary fibrosis
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13. Current status of genome-wide association studies in cancer
    Charles C. Chung, Stephen Jacob Chanock · 2011 · Human Genetics
14. The Role of Telomere Biology in Cancer
    Xu, Lifeng, Li, Shang, Stohr, Bradley A. · 2013 · Annual Review of Pathology: Mechanisms of Disease
15. Role of shelterin in cancer and aging
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16. The genetics of dyskeratosis congenita
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17. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
    Du, Hong-Yan, Pumbo, Elena, Ivanovich, Jennifer, An, Ping, Maziarz, Richard T., Reiss, Ulrike M., Chirnomas, Deborah, Shimamura, Akiko, Vlachos, Adrianna, Lipton, Jeffrey M. et al. · 2009 · Blood
18. Telomere-associated aging disorders
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19. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients
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20. Human diseases of telomerase dysfunction: insights into tissue aging
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21. Telomere length of patients with major depression is shortened but independent from therapy and severity of the disease
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22. Ribosomes and marrow failure: coincidental association or molecular paradigm?
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23. Dyskeratosis congenita, stem cells and telomeres
    Kirwan, Michael, Dokal, Inderjeet · 2009 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
24. Hepatitis Associated Aplastic Anemia: A review
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25. Long telomeres and cancer risk: the price of cellular immortality
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26. Evolutionary Conservation and Expression of Human RNA-Binding Proteins and Their Role in Human Genetic Disease
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27. Telomeres shorten while Tert expression increases during ageing of the short-lived fish Nothobranchius furzeri
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28. Inventory of telomerase components in human cells reveals multiple subpopulations of hTR and hTERT
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29. It all comes together at the ends: Telomerase structure, function, and biogenesis
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30. Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder
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31. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
    Erik L. Bao, Satish Kumar Nandakumar, Xiaotian Liao, Alexander G. Bick, Juha M Karjalainen, Marcin Tabaka, Olga I. Gan, Aki Samuli Havulinna, Tuomo Kiiskinen, Caleb A. Lareau et al. · 2020 · Nature
32. Dyskeratosis congenita as a disorder of telomere maintenance
    Nya D. Nelson, Alison A. Bertuch · 2011 · Mutation research. Fundamental and molecular mechanisms of mutagenesis
33. Phenotypes in mTERT+/− and mTERT−/− Mice Are Due to Short Telomeres, Not Telomere-Independent Functions of Telomerase Reverse Transcriptase
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34. Long-Term Outcome of Pediatric Patients with Severe Aplastic Anemia Treated with Antithymocyte Globulin and Cyclosporine
    Phillip Scheinberg, Colin O. Wu, Olga Núñez, Neal S. Young · 2008 · The Journal of Pediatrics
35. The load of short telomeres is increased and associated with lifetime number of depressive episodes in bipolar II disorder
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36. Structural Basis of Telomerase Inhibition by the Highly Specific BIBR1532
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37. Beginning at the ends: telomeres and human disease
    Savage, Sharon A. · 2018 · F1000Research
38. The complex pathophysiology of acquired aplastic anaemia
    Yi Zeng, Emmanuel Katsanis · 2015 · Clinical & Experimental Immunology
39. Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex
    Tom Vulliamy, Inderjeet S Dokal · 2007 · Biochimie
40. Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis
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41. Hormones and growth factors regulate telomerase activity in ageing and cancer
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42. The short and long telomere syndromes: paired paradigms for molecular medicine
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43. Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis
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44. Classification of Childhood Aplastic Anemia and Myelodysplastic Syndrome
    Charlotte Marie Niemeyer, Irith Baumann · 2011 · Hematology
45. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity
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46. Dyskeratosis Congenita
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47. Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation
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48. Telomeres and immunological diseases of aging.
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49. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1
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50. Systematic review: hepatitis‐associated aplastic anaemia – a syndrome associated with abnormal immunological function
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51. Telomeres, immune aging and autoimmunity
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52. Variation at theTERTlocus and predisposition for cancer
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53. Engineered telomere degradation models dyskeratosis congenita
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54. Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia
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55. Multiple Myeloma Cancer Stem Cells
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56. Genome-wide association studies in cancer--current and future directions
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57. Life Stress, Emotional Health, and Mean Telomere Length in the European Prospective Investigation into Cancer (EPIC)-Norfolk Population Study
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58. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
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59. The role of telomeres in the ageing of human skin: Telomeres and skin ageing
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60. The genomics of inherited bone marrow failure: from mechanism to the clinic
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61. Inherited aplastic anaemias/bone marrow failure syndromes
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62. Chromosomally integrated HHV-6: impact on virus, cell and organismal biology
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63. The association of telomere length and genetic variation in telomere biology genesa
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64. Beyond average: potential for measurement of short telomeres
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65. Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts
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66. Telomeres and disease
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67. Subclinical Lung Disease, Macrocytosis, and Premature Graying in Kindreds With Telomerase (TERT) Mutations
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68. Clinical outcomes of lung transplant recipients with telomerase mutations
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69. Molecular mechanisms of telomere biology disorders
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70. Functional characterization of natural telomerase mutations found in patients with hematologic disorders
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71. Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations
    Tom Vulliamy, Michael J. Kirwan, Richard W. Beswick, Upal Hossain, Charlotte Baqai, Anna Ratcliffe, Judith C. W. Marsh, Amanda J. Walne, Inderjeet S Dokal · 2011 · PLoS ONE
72. Nothobranchius furzeri: A Model for Aging Research and More
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73. TERT activation targets DNA methylation and multiple aging hallmarks
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74. Pot1b Deletion and Telomerase Haploinsufficiency in Mice Initiate an ATR-Dependent DNA Damage Response and Elicit Phenotypes Resembling Dyskeratosis Congenita
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75. Major cutbacks at chromosome ends
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76. Accelerated Telomere Shortening Precedes Development of Therapy-Related Myelodysplasia or Acute Myelogenous Leukemia After Autologous Transplantation for Lymphoma
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77. Pathophysiologic Mechanisms in Acquired Aplastic Anemia
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78. Inherited chromosomally integrated human herpesvirus 6 as a predisposing risk factor for the development of angina pectoris
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79. Spliceosomal cleavage generates the 3′ end of telomerase RNA
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80. The Pathophysiology of Acquired Aplastic Anemia
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81. Telomerase-Specific T-Cell Immunity in Breast Cancer: Effect of Vaccination on Tumor Immunosurveillance
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82. A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice
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83. Telomerase and telomeres in aging theory and chronographic aging theory (Review)
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84. Telomeres, stem cells, and hematology
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85. Telomere length dynamics in normal hematopoiesis and in disease states characterized by increased stem cell turnover
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86. Telomerase Deficiency Causes Alveolar Stem Cell Senescence-associated Low-grade Inflammation in Lungs
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87. An update on the management of severe idiopathic aplastic anaemia in children
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88. Chromatin regulation and non-coding RNAs at mammalian telomeres
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89. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy
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90. Telomerase Inhibition Targets Clonogenic Multiple Myeloma Cells through Telomere Length-Dependent and Independent Mechanisms
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91. Telomere length: lights and shadows on their role in human reproduction
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92. Inherited bone marrow failure in the pediatric patient
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93. Personalized Sequencing and the Future of Medicine: Discovery, Diagnosis and Defeat of Disease
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94. Hematopoietic Stem Cells and the Aging Hematopoietic System
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95. Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia
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96. Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia
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97. A Novel Telomerase Activator Suppresses Lung Damage in a Murine Model of Idiopathic Pulmonary Fibrosis
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98. Telomere length is inherited with resetting of the telomere set-point
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99. Telomere biology disorders
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100. Management of suspected monogenic lung fibrosis in a specialised centre
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