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1
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77952674566
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Pathophysiology and management of inherited bone marrow failure syndromes
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Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010; 24:101-122.
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(2010)
Blood Rev.
, vol.24
, pp. 101-122
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Shimamura, A.1
Alter, B.P.2
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2
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77956014949
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Inherited bone marrow failure syndromes
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Dokal I, Vulliamy T. Inherited bone marrow failure syndromes. Haematologica 2010; 95:1236-1240.
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(2010)
Haematologica
, vol.95
, pp. 1236-1240
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Dokal, I.1
Vulliamy, T.2
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3
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79953045205
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Genetic defects in severe congenital neutropenia: Emerging insights into life and death of human neutrophil granulocytes
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Klein C. Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol 2011; 29:399-413.
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(2011)
Annu. Rev. Immunol.
, vol.29
, pp. 399-413
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Klein, C.1
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6
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80051590706
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Pediatric leukemia predisposition syndromes: Clues to understanding leukemogenesis
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Seif AE. Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. Cancer Genet 2011; 204:227-244.
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(2011)
Cancer Genet
, vol.204
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Seif, A.E.1
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7
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67650500593
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The genetic and molecular basis of fanconi anemia
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De Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res 2009; 668:11-19.
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Mutat Res.
, vol.668
, pp. 11-19
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De Winter, J.P.1
Joenje, H.2
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8
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77952600845
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Susceptibility pathways in fanconis anemia and breast cancer
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D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 2010; 362:1909-1919.
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(2010)
N. Engl. J. Med.
, vol.362
, pp. 1909-1919
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D'Andrea, A.D.1
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9
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77951747926
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Mutation of the RAD51C gene in a fanconi anemia-like disorder
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This study highlights how a homozygous missense mutation was discovered in the RAD51C gene in a family with characteristic Fanconi anemia findings RAD51C is involved in homologous-recombination-mediated DNA repair
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Vaz F, Hanenberg H, Schuster B, et al. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 2010; 42:406-409. This study highlights how a homozygous missense mutation was discovered in the RAD51C gene in a family with characteristic Fanconi anemia findings. RAD51C is involved in homologous-recombination-mediated DNA repair.
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(2010)
Nat. Genet
, vol.42
, pp. 406-409
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Vaz, F.1
Hanenberg, H.2
Schuster, B.3
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10
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79251611165
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Mutations of the SLX4 gene in fanconi anemia
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This study highlights how the depletion of SLX4 a protein that interacts with multiple nucleases resulted in increased sensitivity of cells to crosslinking agents This finding was then linked to two individuals with clinical stigmata of Fanconi anemia where testing of these individuals cells showed biallelic mutations in SLX4
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Kim Y, Lach FP, Desetty R, et al. Mutations of the SLX4 gene in Fanconi anemia. Nat Genet 2011; 43:142-146. This study highlights how the depletion of SLX4, a protein that interacts with multiple nucleases, resulted in increased sensitivity of cells to crosslinking agents. This finding was then linked to two individuals with clinical stigmata of Fanconi anemia, where testing of these individuals' cells showed biallelic mutations in SLX4.
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(2011)
Nat. Genet.
, vol.43
, pp. 142-146
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Kim, Y.1
Lach, F.P.2
Desetty, R.3
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11
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77954310242
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Preventing nonhomologous end joining suppresses DNA repair defects of fanconi anemia
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This article highlights the importance of FANCD2 in preventing DNA repair by nonhomologous end joining which is an error-prone repair pathway
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Adamo A, Collis SJ, Adelman CA, et al. Preventing nonhomologous end joining suppresses DNA repair defects of Fanconi anemia. Mol Cell 2010; 39:25-35. This article highlights the importance of FANCD2 in preventing DNA repair by nonhomologous end joining, which is an error-prone repair pathway.
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(2010)
Mol. Cell.
, vol.39
, pp. 25-35
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Adamo, A.1
Collis, S.J.2
Adelman, C.A.3
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12
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77954339095
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Malignancies and survival patterns in the national cancer institute inherited bone marrow failure syndromes cohort study
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This study describes a cohort of patients with IBMFS who were followed for the development of BMF MDS AML and solid tumors
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Alter BP, Giri N, Savage SA, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010; 150:179-188. This study describes a cohort of patients with IBMFS who were followed for the development of BMF, MDS, AML, and solid tumors.
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(2010)
Br. J. Haematol.
, vol.150
, pp. 179-188
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Alter, B.P.1
Giri, N.2
Savage, S.A.3
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13
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79954595653
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Myelodysplasia and leukemia of fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1 AML1 lesions
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This article highlights the importance of acquired genetic changes in the bone marrow of patients with fanconi anemia and illustrates that specific chromosomal abnormalities may be linked to the development of MDS AML this has significant implications for prognostic management of fanconi anemia patients
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Quentin S, Cuccuini W, Ceccaldi R, et al. Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions. Blood 2011; 117:e161-e170. This article highlights the importance of acquired genetic changes in the bone marrow of patients with Fanconi anemia and illustrates that specific chromosomal abnormalities may be linked to the development of MDS/AML. This has significant implications for prognostic management of Fanconi anemia patients.
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(2011)
Blood
, vol.117
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Quentin, S.1
Cuccuini, W.2
Ceccaldi, R.3
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14
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78649997646
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Numerical chromosomal changes and risk of development of myelodysplastic syndrome-acute myeloid leukemia in patients with fanconi anemia
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Mehta PA, Harris RE, Davies SM, et al. Numerical chromosomal changes and risk of development of myelodysplastic syndrome-acute myeloid leukemia in patients with Fanconi anemia. Cancer Genet Cytogenet 2010; 203:180-186.
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(2010)
Cancer Genet Cytogenet
, vol.203
, pp. 180-186
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Mehta, P.A.1
Harris, R.E.2
Davies, S.M.3
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15
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73949143725
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Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: Morphologic and cytogenetic characteristics
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Cioc AM, Wagner JE, MacMillan ML, et al. Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics. Am J Clin Pathol 2010; 133:92-100.
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(2010)
Am. J. Clin. Pathol.
, vol.133
, pp. 92-100
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Cioc, A.M.1
Wagner, J.E.2
MacMillan, M.L.3
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18
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79953692083
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Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita
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Savage SA, Giri N, Jessop L, et al. Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. J Med Genet 2011; 48:285-288.
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(2011)
J. Med. Genet.
, vol.48
, pp. 285-288
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Savage, S.A.1
Giri, N.2
Jessop, L.3
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20
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80052725505
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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations
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This study reviewed genetic subtypes of dyskeratosis congenita by looking at telomere length telomerase activity and clinical presentation among 194 cases
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Vulliamy TJ, Kirwan MJ, Beswick R, et al. Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. PLoS One 2011; 6:e24383. This study reviewed genetic subtypes of dyskeratosis congenita by looking at telomere length, telomerase activity, and clinical presentation among 194 cases.
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(2011)
PLoS One
, vol.6
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Vulliamy, T.J.1
Kirwan, M.J.2
Beswick, R.3
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22
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33645508898
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Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
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Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107:2680-2685.
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(2006)
Blood
, vol.107
, pp. 2680-2685
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Vulliamy, T.J.1
Marrone, A.2
Knight, S.W.3
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23
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58849153303
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TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
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Du HY, Pumbo E, Ivanovich J, et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009; 113:309-316.
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(2009)
Blood
, vol.113
, pp. 309-316
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Du, H.Y.1
Pumbo, E.2
Ivanovich, J.3
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24
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34548828783
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Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
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DOI 10.1182/blood-2007-02-075598
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Alter BP, Baerlocher GM, Savage SA, et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007; 110:1439-1447. (Pubitemid 47443958)
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Blood
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Alter, B.P.1
Baerlocher, G.M.2
Savage, S.A.3
Chanock, S.J.4
Weksler, B.B.5
Willner, J.P.6
Peters, J.A.7
Giri, N.8
Lansdorp, P.M.9
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25
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63649111958
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A conserved WD40 protein binds the cajal body localization signal of scaRNP particles
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Tycowski KT, Shu MD, Kukoyi A, Steitz JA. A conserved WD40 protein binds the Cajal body localization signal of scaRNP particles. Mol Cell 2009; 34:47-57.
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Mol. Cell.
, vol.34
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Tycowski, K.T.1
Shu, M.D.2
Kukoyi, A.3
Steitz, J.A.4
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26
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65949117219
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TCAB1: Driving telomerase to cajal bodies
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Venteicher AS, Artandi SE. TCAB1: driving telomerase to Cajal bodies. Cell Cycle 2009; 8:1329-1331.
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Cell. Cycle
, vol.8
, pp. 1329-1331
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Venteicher, A.S.1
Artandi, S.E.2
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28
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57649088933
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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in diamond- blackfan anemia patients
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Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond- Blackfan anemia patients. Am J Hum Genet 2008; 83:769-780.
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Am. J. Hum. Genet.
, vol.83
, pp. 769-780
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Gazda, H.T.1
Sheen, M.R.2
Vlachos, A.3
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29
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77951431225
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Ribosomopathies: Human disorders of ribosome dysfunction
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Narla A, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood 2010; 115:3196-3205.
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(2010)
Blood
, vol.115
, pp. 3196-3205
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Narla, A.1
Ebert, B.L.2
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30
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78649549671
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The ribosomal basis of diamond-blackfan anemia: Mutation and database update
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Boria I, Garelli E, Gazda HT, et al. The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum Mutat 2010; 31:1269-1279.
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(2010)
Hum. Mutat.
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, pp. 1269-1279
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Boria, I.1
Garelli, E.2
Gazda, H.T.3
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31
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76049086340
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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in diamond-blackfan anemia
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Doherty L, Sheen MR, Vlachos A, et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 2010; 86:222-228.
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(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 222-228
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Doherty, L.1
Sheen, M.R.2
Vlachos, A.3
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32
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76549088313
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Diamond-blackfan anemia: Genotype- phenotype correlations in Italian patients with RPL5 and RPL11 mutations
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Quarello P, Garelli E, Carando A, et al. Diamond-Blackfan anemia: genotype- phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica 2010; 95:206-213.
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(2010)
Haematologica
, vol.95
, pp. 206-213
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Quarello, P.1
Garelli, E.2
Carando, A.3
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33
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84856084303
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Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-blackfan anemia and the 5q- syndrome
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Epub ahead of print
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Boultwood J, Pellagatti A, Wainscoat JS. Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome. Adv Enzyme Regul 2011. [Epub ahead of print]
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Adv. Enzyme. Regul.
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Boultwood, J.1
Pellagatti, A.2
Wainscoat, J.S.3
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34
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79953117045
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Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells
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This article specifically describes the accumulation of p53 in erythroid progenitor cells after knockdown of ribosomal proteins S19 and S14 Indeed inhibition of p53 rescued the erythroid defect
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Dutt S, Narla A, Lin K, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood 2011; 117:2567-2576. This article specifically describes the accumulation of p53 in erythroid progenitor cells after knockdown of ribosomal proteins S19 and S14. Indeed, inhibition of p53 rescued the erythroid defect.
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(2011)
Blood
, vol.117
, pp. 2567-2576
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Dutt, S.1
Narla, A.2
Lin, K.3
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35
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79956291339
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TP53 mutations in low-risk myelodysplastic syndromes with del 5q predict disease progression
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Jadersten M, Saft L, Smith A, et al. TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol 2011; 29:1971-1979.
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J. Clin. Oncol.
, vol.29
, pp. 1971-1979
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Jadersten, M.1
Saft, L.2
Smith, A.3
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36
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80052149787
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Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis
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Corticosteroids and lenalidomide are used in patients with DBA and MDS respectively this article found that dexamethasone and lenalidomide promoted different stages of erythropoiesis and implies a potentially new combination of therapy for these patients
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Narla A, Dutt S, McAuley JR, et al. Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis. Blood 2011; 118:2296-2304. Corticosteroids and lenalidomide are used in patients with DBA and MDS, respectively. This article found that dexamethasone and lenalidomide promoted different stages of erythropoiesis and implies a potentially new combination of therapy for these patients.
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(2011)
Blood
, vol.118
, pp. 2296-2304
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Narla, A.1
Dutt, S.2
McAuley, J.R.3
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37
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19944430855
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Analysis of risk factors for myelodysplasias leukemias and death from infection among patients with congenital neutropenia
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Experience of the French Severe Chronic Neutropenia Study Group
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Donadieu J, Leblanc T, Bader Meunier B, et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 2005; 90:45-53.
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(2005)
Haematologica
, vol.90
, pp. 45-53
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Donadieu, J.1
Leblanc, T.2
Bader Meunier, B.3
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38
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80054836766
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Defective ribosome assembly in shwachman-diamond syndrome
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In a slime mold model SDS mutants showed impairment in ribosomal subunit joining supporting the idea that SDS is a ribosomopathy
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Wong CC, Traynor D, Basse N, et al. Defective ribosome assembly in Shwachman-Diamond syndrome. Blood 2011; 118:4305-4312. In a slime mold model, SDS mutants showed impairment in ribosomal subunit joining, supporting the idea that SDS is a ribosomopathy.
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(2011)
Blood
, vol.118
, pp. 4305-4312
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Wong, C.C.1
Traynor, D.2
Basse, N.3
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39
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64949131886
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The isochromosome i 7 q10 carrying c.2582tc mutation of the SBDS gene does not promote development of myeloid malignancies in patients with shwachman syndrome
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Minelli A, Maserati E, Nicolis E, et al. The isochromosome i(7)(q10) carrying c.2582t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia 2009; 23:708-711.
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Leukemia
, vol.23
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Minelli, A.1
Maserati, E.2
Nicolis, E.3
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40
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A syndrome with congenital neutropenia and mutations in G6PC3
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Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009; 360:32-43.
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N. Engl. J. Med.
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Boztug, K.1
Appaswamy, G.2
Ashikov, A.3
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41
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79956035262
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Congenital neutropenia: Diagnosis molecular bases and patient management
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Donadieu J, Fenneteau O, Beaupain B, et al. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011; 6:26.
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Orphanet J. Rare Dis.
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Donadieu, J.1
Fenneteau, O.2
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42
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39649098272
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Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
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DOI 10.1182/blood-2006-11-057299
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Grenda DS, Murakami M, Ghatak J, et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood 2007; 110:4179-4187. (Pubitemid 351377781)
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(2007)
Blood
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Grenda, D.S.1
Murakami, M.2
Ghatak, J.3
Xia, J.4
Boxer, L.A.5
Dale, D.6
Dinauer, M.C.7
Link, D.C.8
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43
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G6PC3 mutations are associated with a major defect of glycosylation: A novel mechanism for neutrophil dysfunction
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Hayee B, Antonopoulos A, Murphy EJ, et al. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology 2011; 21:914-924.
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Glycobiology
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Hayee, B.1
Antonopoulos, A.2
Murphy, E.J.3
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44
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Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey
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DOI 10.1182/blood-2006-02-004275
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Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 2007; 109:93-99. (Pubitemid 46053048)
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(2007)
Blood
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Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
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45
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34548820699
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Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia
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DOI 10.1182/blood-2007-03-081216
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Link DC, Kunter G, Kasai Y, et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood 2007; 110:1648-1655. Hematology and oncology 32 (Pubitemid 47443983)
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(2007)
Blood
, vol.110
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Link, D.C.1
Kunter, G.2
Kasai, Y.3
Zhao, Y.4
Miner, T.5
McLellan, M.D.6
Ries, R.E.7
Kapur, D.8
Nagarajan, R.9
Dale, D.C.10
Bolyard, A.A.11
Boxer, L.A.12
Welte, K.13
Zeidler, C.14
Donadieu, J.15
Bellanne-Chantelot, C.16
Vardiman, J.W.17
Caligiuri, M.A.18
Bloomfield, C.D.19
DiPersio, J.F.20
Tomasson, M.H.21
Graubert, T.A.22
Westervelt, P.23
Watson, M.24
Shannon, W.25
Baty, J.26
Mardis, E.R.27
Wilson, R.K.28
Ley, T.J.29
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