Chromosome instability syndromes

Best Practice and Research: Clinical Haematology

Volumn 14, Issue 3, 2001, Pages 631-644

  Taylor, A M R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Ataxia telangiectasa like disorder; Ataxia telangiectasia; Bloom syndrome; Cancer; Chromosome instability; Fanconi anaemia; Nijmegen breakage syndrome

Indexed keywords

ATM PROTEIN; DNA; T LYMPHOCYTE RECEPTOR;

ANIMAL CELL; ARTICLE; ATAXIA TELANGIECTASIA; BLOOM SYNDROME; BONE MARROW TRANSPLANTATION; CANCER SUSCEPTIBILITY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DNA DAMAGE; DNA RECOMBINATION; DNA REPAIR; FANCONI ANEMIA; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IONIZING RADIATION; LYMPHATIC SYSTEM TUMOR; MOUSE; NIJMEGEN BREAKAGE SYNDROME; NONHUMAN; PRIORITY JOURNAL; RADIOSENSITIVITY; T LYMPHOCYTE RECEPTOR GENE;

EID: 0034757721     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1053/beha.2001.0158     Document Type: Article

References (97)

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5. MTCP-I: A novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha delta locus in mature T cell proliferations
6. The chromosomal translocation t(X;14)(q28;q11) in T-cell prolymphocytic leukaemia breaks within one gene and activates another
7. A gene on chromosome Xq28 associated with T-cell prolymphocytic leukemia in two patients with ataxia telangiectasia
8. Accelerated telomere shortening in ataxia telangiectasia
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11. Is chromatid-type damage in ataxia telangiectasia after irradiation at G0 a consequence of defective repair?
12. A subpopulation of t(2;14)(p11;q32) cells in ataxia telangiectasia B lymphocytes
13. Characterization of a B-lymphocyte t(2;14) (p11;q32) translocation from an ataxia telangiectasia patient conferring a proliferative advantage on cells in vitro
14. A single ataxia telangiectasia gene with a product similar to PI-3 kinase
15. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia
16. Biallelic mutations in the ATM gene in T-prolymphocytic leukemia
17. Inactivation of the ATM gene in T-cell prolymphocytic leukemias
18. Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia
19. ATM mutations in B-cell chronic lymphocytic leukemia
20. Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia
21. Mantle cell lymphoma is characterized by inactivation of the ATM gene
22. Enhanced phosphorylation of p53 by ATM in response to DNA damage
23. Activation of the ATM kinase by ionizing radiation and phosphorylation of p53
24. Substrate specificities and identification of putative substrates of ATM kinase family members
25. A cellular description of the repair defect in ataxia telangiectasia
26. High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia
27. Atm deficiency causes an increased frequency of intrachromosomal homologous recombination in mice
28. Radiation-induced assembly of Rad51 and Rad52 recombination complex requires ATM and c-Abl
29. The controlling role of ATM in homologous recombinational repair of DNA damage
30. Atm-deficient mice: A paradigm of ataxia telangiectasia
31. Pleiotropic defects in ataxia-telangiectasia protein-deficient mice
32. Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system
33. The DNA double-strand break repair gene hMREII is mutated in individuals with an ataxia-telangiectasia-like disorder
34. hMREII: Genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay
35. Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mrell protein in murine embryonic stem cells
36. A new chromosomal instability disorder: The Nijmegen breakage syndrome
37. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
38. Targeted disruption of the Nijmegen Breakage Syndrome gene NBSI leads to early embryonic lethality in mice
39. An alternative mode of translation permits production of a variant NBSI protein from the common Nijmegen breakage syndrome allele
40. ATM phosphorylates p95/nbsI in an S-phase checkpoint pathway
41. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products
42. Molecular biology of Fanconi anemia: Implications for diagnosis and therapy
43. Clinical and cytogenetic diversity in Fanconi's anaemia
44. Effects of ionizing radiation on cells from Fanconi's anemia patients
45. Cloning of cDNAs for Fanconi's anaemia by functional complementation
46. The Fanconi anaemia group G gene FANCG is identical with XRCC9
47. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
48. Isolation of a cDNA representing the Fanconi anemia complementation group E gene
49. The Fanconi anaemia/breast cancer consortium
50. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
51. Positional cloning of a novel Fanconi anaemia gene, FANCD2
52. Fanconi anemia proteins FANCA, FANCC, and FANGG/XRCC9 interact in a functional nuclear complex
53. A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA
54. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG
55. The Fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex
56. The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation
57. Interaction of the Fanconi Anaemia proteins and BRCA1 in a common pathway
58. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia
59. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene
60. Mice with a targeted disruption of the Fanconi anemia homolog Fanca
61. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors
62. Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells
63. Congenital bone marrow failure syndromes
64. Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: A study on behalf of the European Group for Blood and Marrow Transplantation
65. Bone marrow transplantation for Fanconi anemia
66. Transplantation for Fanconi's anaemia: Long-term follow-up of fifty patients transplanted from a sibling donor after low-dose cyclophosphamide and thoraco-abdominal irradiation for conditioning
67. Marrow transplantation for Fanconi anaemia: Conditioning with reduced doses of cyclophosphamide without radiation
68. Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation
69. Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts
70. Bloom's Syndrome
71. A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes
72. Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents
73. Cellular sensitivity to mutagens and carcinogens in the chromosome-breakage and other cancer-prone syndromes
74. The Bloom's syndrome gene product is homologous to RecQ helicases
75. The DNA helicase activity of BLM is necessary for the correction of the genomic instability of Bloom syndrome cells
76. Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal
77. Nuclear structure in normal and Bloom syndrome cells
78. Positional cloning of the Werner's syndrome gene
79. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
80. Nucleolar localization of the Werner syndrome protein in human cells
81. The Bloom's syndrome gene product is a 3′-5′ DNA helicase
82. RecQ helicase, in concert with RecA and SSB proteins, initiates and disrupts DNA recombination
83. RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli
84. RuvAB acts at arrested replication forks
85. The Bloom's syndrome gene product promotes branch migration of Holliday junctions
86. Possible association of BLM in decreasing DNA double strand breaks during DNA replication
87. Expression and nuclear localization of BLM, a chromosome stability protein mutated in Bloom's syndrome, suggest a role in recombination during meiotic prophase
88. Bloom's syndrome protein. BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes
89. V(D)J recombination in ataxia telangiectasia. Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder
90. Expression of the BLM gene in human haematopoietic cells
91. Somatic hypermutation of immunoglobulin genes is independent of the Bloom's syndrome DNA helicase
92. Cancer predisposition caused by elevated mitotic recombination in Bloom mice
93. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
94. ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation
95. Abnormal rearrangements associated with V(D)J recombination in Fanconi anemia
96. Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice