|
1) Hirano N, Butler MO, Guinan EC, et al. Presence of anti-kinectin and anti-PMS1 antibodies in Japanese aplastic anaemia patients. Br J Haematol. 2005; 128: 221-3
|
|
|
|
2) Hirano N, Butler MO, Von Bergwelt-Baildon MS, et al. Autoantibodies frequently detected in patients with aplastic anemia. Blood. 2003; 102: 4567-75
|
|
|
|
|
|
3) Takamatsu H, Feng X, Chuhjo T, et al. Specific antibodies to moesin, a membrane-cytoskeleton linker protein, are frequently detected in patients with acquired aplastic anemia. Blood. 2007; 109: 2514-20
|
|
|
|
|
|
4) Feng X, Chuhjo T, Sugimori C, et al. Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. Blood. 2004; 104: 2425-31
|
|
|
|
|
|
5) Yoshida N, Yagasaki H, Takahashi Y, et al. Clinical impact of HLA-DR15, a minor population of paroxysmal nocturnal haemoglobinuria-type cells, and an aplastic anaemia-associated autoantibody in children with acquired aplastic anaemia. Br J Haematol. 2008 Jun 3. [Epub ahead of print]
|
|
|
|
|
|
6) Risitano AM, Kook H, Zeng W, et al. Oligoclonal and polyclonal CD4 and CD8 lymphocytes in aplastic anemia and paroxysmal nocturnal hemoglobinuria measured by Vβ CD3 spectratyping and flow cytometry. Blood. 2002; 100: 178-83
|
|
|
|
|
|
7) Solomou EE, Rezvani K, Mielke S, et al. Deficient CD4＋ CD25＋ FOXP3＋ T regulatory cell in aplastic anemia. Blood. 2007; 110: 1603-6
|
|
|
|
|
|
8) Feng X, Kajigaya S, Solomou EE, et al. Rabbit ATG but not horse ATG promote expression of functional CD4＋ CD25 high FOXP3＋ regulatory cells in vitro. Blood. 2008; 111: 3675-83
|
|
|
|
|
|
9) Alter BP. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program. 2007; 2007: 29-39
|
|
|
|
|
|
10) Dokal I, Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev. 2008; 22: 141-53
|
|
|
|
|
|
11) Calado RT, Young NS, et al. Telomere maintenance and human bone marrow failure. Blood. 2008; 111: 4446-55
|
|
|
|
|
|
12) Vulliamy T, Marrone A, Dokal I, et al. Association between aplastic anaemia and mutations in telomerase RNA. Lancet. 2002; 359: 2168-70
|
|
|
|
|
|
13) Vulliamy T, Walne A, Baskaradas A, et al. Mutation in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis. 2005; 34: 257-63
|
|
|
|
|
|
14) Walne AJ, Vulliamy TJ, Beswick R, et al. TINF2 mutations result in very short telomeres: Analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008; 112: 3594-600
|
|
|
|
|
|
15) Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005; 352: 1413-24
|
|
|
|
|
|
16) Liang J, Yagasaki H, Kamachi Y, et al. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica. 2006; 91: 656-8
|
|
|
|
|
|
17) Calado RT, Graf SA, Wilkerson KL, et al. Mutations in the SBDS gene in acquired aplastic anemia. Blood. 2007; 110: 1141-6
|
|
|
|
|
|
18) Wang Y, Yagasaki H, Hama A, et al. Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children. Haematologica. 2007; 92: 1573
|
|
|
|
|
|
19) Solomou EE, Gibellini F, Stewart B, et al. Perforin gene mutations in patients with acquired aplastic anemia. Blood. 2007; 109: 5234-7
|
|
|
|
|
|
20) Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet. 2007; 8: 735-48
|
|
|
|
|
|
21) Hess CJ, Ameziane N, Schuurhuis GJ, et al. Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia. Cell Oncol. 2008; 30: 299-306
|
|
|
|
|
|
22) Lyakhovich A, Surralles J. Disruption of the Fanconi anemia/BRCA pathway in sporadic cancer. Cancer Letters. 2006; 232: 99-106
|
|
|
|
|
|
23) Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001; 413: 432-5
|
|
|
|
|
|
24) Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008; 82: 501-9
|
|
|
|
|
|
25) Vulliamy T, Beswick R, Kirwan M, et al. Mutation in the telomerase component NHP2 cause the premature aging syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A. 2008; 105: 8073-8
|
|
|
|
|
|
26) Walne AJ, Vulliamy T, Marrone A, et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007; 16: 1619-29
|
|
|
|
|
|
27) Marrone A, Walne A, Tamary H, et al. Telomerase reverese transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarson syndrome. Blood. 2007; 110: 4198-205
|
|
|
|
|
|
28) Kim SH, Davalos AR, Heo SJ, et al. Telomere dysfunction and cell survival: roles for distinct TIN2-containing complexes. J Cell Biol. 2008; 181: 447-60
|
|
|
|
|
|
29) Yoon A, Peng G, Brandenburger Y, et al. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science. 2006; 312: 902-6
|
|
|
|
|
|
30) Ganapathi KA, Shimamura A. Ribosomal dysfunction and inherited marrow failure. Br J Haematol. 2008; 141: 376-87
|
|
|
|
|
|
31) Costa E, Duque F, Oliveira J, et al. Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. Blood Cells Mol Dis. 2007; 39: 96-101
|
|
|
|
|
|
32) Erdos M, Alapi K, Balogh I, et al. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. Exp Hematol. 2006; 34: 1517-21
|
|
|
|
|
|
33) Nishimura G, Nakashima E, Hirose Y, et al. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet. 2007; 44: e73
|
|
|
|
|
|
34) Zhang S, Shi M, Hui CC, et al. Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol. 2006; 26: 6656-63
|
|
|
|
|
|
35) Rawls AS, Gregory AD, Woloszynek JR, et al. Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential. Blood. 2007; 110: 2414-22
|
|
|
|
|
|
36) Yamaguchi M, Fujimura K, Toga H, et al. Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors. Exp Hematol. 2007; 35: 579-86
|
|
|
|
|
|
37) Ganapathi KA, Austin KM, Lee CS, et al. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood 2007; 110: 1458-65
|
|
|
|
|
|
38) Austin KM, Gupta ML, Coats SA, et al. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008; 118: 1511-8
|
|
|
|
|