Dyskeratosis congenita in all its forms

British Journal of Haematology

Volumn 110, Issue 4, 2000, Pages 768-779

  Dokal, I ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Aplastic anaemia; Bone marrow failure; Chromosomal instability; Dyskeratosis congenita; Hoyeraal Hreidarsson syndrome

Indexed keywords

ANABOLIC AGENT; BUSULFAN; GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; OXYMETHOLONE; VON WILLEBRAND FACTOR;

BLOOD DISEASE; BONE MARROW DEPRESSION; CHROMOSOME ABERRATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; DYSKERATOSIS CONGENITA; EPIPHORA; GENE MUTATION; GENE THERAPY; HUMAN; HYPERHIDROSIS; LEUKOPLAKIA; LUNG DISEASE; MENTAL DEFICIENCY; MOLECULAR CLONING; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SKIN APPENDAGE DISEASE; STEM CELL TRANSPLANTATION; X CHROMOSOME INACTIVATION;

ANEMIA, APLASTIC; CELL CYCLE PROTEINS; CONSANGUINITY; DYSKERATOSIS CONGENITA; FEMALE; GENE THERAPY; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; NUCLEAR PROTEINS; REGISTRIES; X CHROMOSOME;

EID: 0033754823     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02109.x     Document Type: Review

References (95)

1. The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia
2. Effect of stem cell factor on in vitro erythropoiesis in patients with bone marrow failure syndromes
3. Treatment of dyskeratosis congenita with granulocyte macrophage colony-stimulating factor and erythropoietin
4. Novel predicted RNA-binding domains associated with translation machinery
5. Dyskeratosis congenita: Three additional families show linkage to a locus in Xq28
6. Fanconi anemia
7. The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of ψ55 in both mitochondrial and cytoplasmic tgNAs
8. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia
9. Late vascular complications after bone marrow transplantation for dyskeratosis congenita
10. The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3
11. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis otis
12. Telomerase maintenance mechanisms and cellular immortalization
13. Haemopoietic progenitor cells in dyskeratosis congenita
14. Dyskeratosis congenita: Report of a large kindred
15. Assignment of the gene for dyskeratosis congenita to Xq28
16. Chromosome breakage analysis in dyskeratosis congenita peripheral blood lymphocytes
17. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts
18. Thrombocytopenia: First symptom in a patient with dyskeratosis congenita
19. Dyskeratosis congenita with an unusual chromosomal abnormality
20. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
21. Dyskeratosis congenita: An inherited bone marrow failure syndrome
22. Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita
23. Dyskeratosis congenita is a chromosomal instability disorder
24. Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements
25. Elevated levels and multimer pattern of von Willebrand Factor antigen in patients with dyskeratosis congenita
26. Dyskeratosis congenita: Clinical and genetic heterogeneity. Report of a new case and review of the literature
27. Dyskeratosis congenita
28. Dyskeratosis congenita: An autosomal recessive variant
29. A unique case of reticular pigmentation of the skin with atrophy
30. Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita
31. Dyskeratosis congenita: Unusual presenting features within a kindred
32. Dyskeratosis congenita with hypoplastic anemia: A stem cell defect
33. Sindrome di Zinsser-Cole-Engman: A proposito di due casi a transmissione autosomica dominante
34. Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation
35. Minifly, a Drosophila gene required for ribosome biogenesis
36. Identification of new RNA modifying enzymes by iterative genome research using known modifying enzymes as probes
37. Mapping and characterization of X-linked dyskeratosis congenita (DKC) gene
38. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
39. Dyskerin localises to the nucleolus and its mislocalisation is unlikely to play a role in the pathogenesis of dyskeratosis congenita
40. Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs
41. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers
42. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
43. DCG or chronic graft-versus-host disease? A diagnostic dilemma in a child eight years after bone marrow transplantation for aplastic anemia
44. An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules
45. Dyskeratosis congenita in a female
46. Abnormality of platelet size and T-lymphocyte proliferation in an autosomal recessive form of dyskeratosis congenita
47. Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita
48. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita
49. Fine mapping of the dyskeratosis congenita locus in Xq28
50. Dyskeratosis Congenita (DC) Registry: Identification of new features of DC
51. 1.4 Mb candidate gene region for X-linked dyskeratosis congenita defined by combined haplotype and X-chromosome inactivation analysis
52. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene DKC1
53. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
54. Pseudouridine synthases: Four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases
55. The box H + ACA snoRNAs carry CbfSp, the putative rRNA pseudouridine synthase
56. Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita
57. Bone marrow transplant for dyskeratosis congenita
58. Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease
59. Dyskeratosis and ribosomal rebellion
60. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages
61. Evidence of a continuous decline in haemopoietic function from birth: Application to evaluating bone marrow failure in children
62. 'Stem cell' origin of the hematopoietic defect in dyskeratosis congenita
63. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria
64. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end
65. A telomerase component is defective in the human disease dyskeratosis congenita
66. Dyskeratosis congenita, two extremes
67. The Hoyeraal-Hreidarsson syndrome: The presentation of the seventh case
68. Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosomal RNA
69. Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families
70. What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome?
71. Etiologic heterogeneity in dyskeratosis congenita
72. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes and transformed lymphoblasts
73. Interstitial pulmonary disease associated with dyskeratosis congenita
74. The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast
75. Dyskeratosis congenita: Delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation
76. Unusual complications after bone marrow transplantation for dyskeratosis congenita
77. Another case of Pneumocystis carinii pneumonia in a patient with dyskeratosis congenita (Zinsser-Cole-Engman syndrome)
78. Novel missense mutations in the DKC1 gene in patients with dyskeratosis congenita
79. Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor
80. Chromosomal abnormalities in dyskeratosis congenita
81. Dyskeratosis congenita: Clinical features and genetic aspects: Report of a family and review of the literature
82. Response to androgens in the constitutional aplastic anemia of dyskeratosis congenita
83. Dyskeratosis congenita: Multisystem disorder with special consideration of immunologic aspects
84. Dyskeratosis congenita: First report of its occurrence in a female and a review of the literature
85. Dyskeratosis congenita: An autosomal dominant disorder
86. Broncoalveolar disease in dyskeratosis congenita
87. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita
88. Dyskeratosis congenita caused by a 3' deletion: Germline and somatic mosaicism in a female carrier
89. Mutations in X-linked dyskeratosis congenita (DC) gene (DKC1) only account for ~50% of families: Further evidence for additional DC gene (s)
90. Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA-binding protein, are present together with Gar1p in all H BOX/ACA-multi snoRNPs and constitute a common bipartite structure
91. Progressive immune failure in dyskeratosis congenita. Report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed
92. Fatal interstitial pulmonary disease in a patient with DC after allogeneic bone marrow transplantation
93. Analysis of epitope-tagged forms of the dyskeratosis congenita protein (dyskerin): Identification of a nuclear localization signal
94. Point mutations in Yeast CBF5 can abolish in vivo pseudouridylation of rRNA
95. Atropha cutis reticularis cum pigmentatione, dystrophia ungiumet leukoplakia oris