-
1
-
-
0037372442
-
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia
-
Cazzola M, Invernizzi R, Bergamaschi G, Levi S, Corsi B, Travaglino E et al. Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. Blood 2003; 101: 1996-2000.
-
(2003)
Blood
, vol.101
, pp. 1996-2000
-
-
Cazzola, M.1
Invernizzi, R.2
Bergamaschi, G.3
Levi, S.4
Corsi, B.5
Travaglino, E.6
-
2
-
-
53249123632
-
-
IARC: Lyon
-
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC: Lyon, 2008.
-
(2008)
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
-
-
Swerdlow, S.H.1
Campo, E.2
Harris, N.L.3
Jaffe, E.S.4
Pileri, S.A.5
Stein, H.6
-
3
-
-
67649876132
-
Acquired mutations in TET2 are common in myelodysplastic syndromes
-
Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009; 41: 838-842.
-
(2009)
Nat Genet
, vol.41
, pp. 838-842
-
-
Langemeijer, S.M.1
Kuiper, R.P.2
Berends, M.3
Knops, R.4
Aslanyan, M.G.5
Massop, M.6
-
5
-
-
80053900941
-
Frequent pathway mutations of splicing machinery in myelodysplasia
-
Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64-69.
-
(2011)
Nature
, vol.478
, pp. 64-69
-
-
Yoshida, K.1
Sanada, M.2
Shiraishi, Y.3
Nowak, D.4
Nagata, Y.5
Yamamoto, R.6
-
6
-
-
83455234787
-
Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms
-
Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, Della Porta MG Pascutto C et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood 2011; 118: 6239-6246.
-
(2011)
Blood
, vol.118
, pp. 6239-6246
-
-
Malcovati, L.1
Papaemmanuil, E.2
Bowen, D.T.3
Boultwood, J.4
Della Porta, M.G.5
Pascutto, C.6
-
7
-
-
84855841586
-
SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value
-
Patnaik MM, Lasho TL, Hodnefield JM, Knudson RA, Ketterling RP, Garcia-Manero G et al. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. Blood 2012; 119: 569-572.
-
(2012)
Blood
, vol.119
, pp. 569-572
-
-
Patnaik, M.M.1
Lasho, T.L.2
Hodnefield, J.M.3
Knudson, R.A.4
Ketterling, R.P.5
Garcia-Manero, G.6
-
8
-
-
84859856420
-
Frequency and prognostic impact of mutations in SRSF2, U2AF1 and ZRSR2 in patients with myelodysplastic syndromes
-
Thol F, Kade S, Schlarmann C, Lö ffeld P, Morgan M, Krauter J et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1 and ZRSR2 in patients with myelodysplastic syndromes. Blood 2012; 119: 3578-3584.
-
(2012)
Blood
, vol.119
, pp. 3578-3584
-
-
Thol, F.1
Kade, S.2
Schlarmann, C.3
Löffeld, P.4
Morgan, M.5
Krauter, J.6
-
9
-
-
84860767817
-
SF3B1 mutations in myelodysplastic syndromes: Clinical associations and prognostic implications
-
Damm F, Thol F, Kosmider O, Kade S, Loffeld P, Dreyfus F et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia 2012; 26: 1137-1140.
-
(2012)
Leukemia
, vol.26
, pp. 1137-1140
-
-
Damm, F.1
Thol, F.2
Kosmider, O.3
Kade, S.4
Loffeld, P.5
Dreyfus, F.6
-
10
-
-
84857994411
-
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts
-
Visconte V, Makishima H, Jankowska A, Szpurka H, Traina F, Jerez A et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia 2012; 26: 542-545.
-
(2012)
Leukemia
, vol.26
, pp. 542-545
-
-
Visconte, V.1
Makishima, H.2
Jankowska, A.3
Szpurka, H.4
Traina, F.5
Jerez, A.6
-
11
-
-
0035100089
-
Apoptosis in refractory anaemia with ringed sideroblasts is initiated at the stem cell level and associated with increased activation of caspases
-
Hellstrom-Lindberg E, Schmidt-Mende J, Forsblom AM, Christensson B, Fadeel B, Zhivotovsky B. Apoptosis in refractory anaemia with ringed sideroblasts is initiated at the stem cell level and associated with increased activation of caspases. Br J Haematol 2001; 112: 714-726.
-
(2001)
Br J Haematol
, vol.112
, pp. 714-726
-
-
Hellstrom-Lindberg, E.1
Schmidt-Mende, J.2
Forsblom, A.M.3
Christensson, B.4
Fadeel, B.5
Zhivotovsky, B.6
-
12
-
-
0035013475
-
Granulocyte colony-stimulating factor inhibits Fas-triggered apoptosis in bone marrow cells isolated from patients with refractory anemia with ringed sideroblasts
-
Schmidt-Mende J, Tehranchi R, Forsblom AM, Joseph B, Christensson B, Fadeel B et al. Granulocyte colony-stimulating factor inhibits Fas-triggered apoptosis in bone marrow cells isolated from patients with refractory anemia with ringed sideroblasts. Leukemia 2001; 15: 742-751.
-
(2001)
Leukemia
, vol.15
, pp. 742-751
-
-
Schmidt-Mende, J.1
Tehranchi, R.2
Forsblom, A.M.3
Joseph, B.4
Christensson, B.5
Fadeel, B.6
-
13
-
-
70449486011
-
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis
-
Malcovati L, Della Porta MG, Pietra D, Boveri E, Pellagatti A, Galli A et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood 2009; 114: 3538-3545.
-
(2009)
Blood
, vol.114
, pp. 3538-3545
-
-
Malcovati, L.1
Della Porta, M.G.2
Pietra, D.3
Boveri, E.4
Pellagatti, A.5
Galli, A.6
-
14
-
-
0037307728
-
Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors
-
Tehranchi R, Fadeel B, Forsblom AM, Christensson B, Samuelsson J, Zhivotovsky B et al. Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors. Blood 2003; 101: 1080-1086.
-
(2003)
Blood
, vol.101
, pp. 1080-1086
-
-
Tehranchi, R.1
Fadeel, B.2
Forsblom, A.M.3
Christensson, B.4
Samuelsson, J.5
Zhivotovsky, B.6
-
15
-
-
22044434111
-
Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes
-
Tehranchi R, Invernizzi R, Grandien A, Zhivotovsky B, Fadeel B, Forsblom AM et al. Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes. Blood 2005; 106: 247-253.
-
(2005)
Blood
, vol.106
, pp. 247-253
-
-
Tehranchi, R.1
Invernizzi, R.2
Grandien, A.3
Zhivotovsky, B.4
Fadeel, B.5
Forsblom, A.M.6
-
16
-
-
0032920837
-
Mutation of a putative mitochondrial iron transporter gene (ABC7 in X-linked sideroblastic anemia and ataxia (XLSA/A)
-
Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 1999; 8: 743-749.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 743-749
-
-
Allikmets, R.1
Raskind, W.H.2
Hutchinson, A.3
Schueck, N.D.4
Dean, M.5
Koeller, D.M.6
-
17
-
-
70349335786
-
Hereditary sideroblastic anemias: Pathophysiology, diagnosis, and treatment
-
Camaschella C. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. Semin Hematol 2009; 46: 371-377.
-
(2009)
Semin Hematol
, vol.46
, pp. 371-377
-
-
Camaschella, C.1
-
18
-
-
34147165135
-
RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload
-
Cavadini P, Biasiotto G, Poli M, Levi S, Verardi R, Zanella I et al. RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. Blood 2007; 109: 3552-3559.
-
(2007)
Blood
, vol.109
, pp. 3552-3559
-
-
Cavadini, P.1
Biasiotto, G.2
Poli, M.3
Levi, S.4
Verardi, R.5
Zanella, I.6
-
19
-
-
33644772614
-
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis
-
Pondarre C, Antiochos BB, Campagna DR, Clarke SL, Greer EL, Deck KM et al. The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Hum Mol Genet 2006; 15: 953-964.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 953-964
-
-
Pondarre, C.1
Antiochos, B.B.2
Campagna, D.R.3
Clarke, S.L.4
Greer, E.L.5
Deck, K.M.6
-
20
-
-
34147158934
-
Abcb7 Fleming MD. The gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis
-
Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Abcb7 Fleming MD. the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood 2007; 109: 3567-3569.
-
(2007)
Blood
, vol.109
, pp. 3567-3569
-
-
Pondarre, C.1
Campagna, D.R.2
Antiochos, B.3
Sikorski, L.4
Mulhern, H.5
-
21
-
-
77952682066
-
Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF
-
Nikpour M, Pellagatti A, Liu A, Karimi M, Malcovati L, Gogvadze V et al. Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF. Br J Haematol 2010; 149: 844-854.
-
(2010)
Br J Haematol
, vol.149
, pp. 844-854
-
-
Nikpour, M.1
Pellagatti, A.2
Liu, A.3
Karimi, M.4
Malcovati, L.5
Gogvadze, V.6
-
22
-
-
44849143798
-
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts
-
Boultwood J, Pellagatti A, Nikpour M, Pushkaran B, Fidler C, Cattan H et al. The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. PLoS One 2008; 3: e1970.
-
(2008)
PLoS One
, vol.3
-
-
Boultwood, J.1
Pellagatti, A.2
Nikpour, M.3
Pushkaran, B.4
Fidler, C.5
Cattan, H.6
-
23
-
-
34147171967
-
Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts
-
Steensma DP, Hecksel KA, Porcher JC, Lasho TL. Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). Leuk Res 2007; 31: 623-628.
-
(2007)
Leuk Res
, vol.31
, pp. 623-628
-
-
Steensma, D.P.1
Hecksel, K.A.2
Porcher, J.C.3
Lasho, T.L.4
-
24
-
-
0030921664
-
Retroviral-mediated transfer of the green fluorescent protein gene into murine hematopoietic cells facilitates scoring and selection of transduced progenitors in vitro and identification of genetically modified cells in vivo
-
Persons DA, Allay JA, Allay ER, Smeyne RJ, Ashmun RA, Sorrentino BP et al. Retroviral-mediated transfer of the green fluorescent protein gene into murine hematopoietic cells facilitates scoring and selection of transduced progenitors in vitro and identification of genetically modified cells in vivo. Blood 1997; 90: 1777-1786.
-
(1997)
Blood
, vol.90
, pp. 1777-1786
-
-
Persons, D.A.1
Allay, J.A.2
Allay, E.R.3
Smeyne, R.J.4
Ashmun, R.A.5
Sorrentino, B.P.6
-
25
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001; 25: 402-408.
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
26
-
-
79251635938
-
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
-
Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 2011; 469: 539-542.
-
(2011)
Nature
, vol.469
, pp. 539-542
-
-
Varela, I.1
Tarpey, P.2
Raine, K.3
Huang, D.4
Ong, C.K.5
Stephens, P.6
-
27
-
-
77949587649
-
Fast and accurate long-read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010; 26: 589-595.
-
(2010)
Bioinformatics
, vol.26
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
28
-
-
80054010617
-
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts
-
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011; 365: 1384-1395.
-
(2011)
N Engl J Med
, vol.365
, pp. 1384-1395
-
-
Papaemmanuil, E.1
Cazzola, M.2
Boultwood, J.3
Malcovati, L.4
Vyas, P.5
Bowen, D.6
-
29
-
-
77956556260
-
MicroRNA fingerprinting of CLL patients with chromosome 17p deletion identify a miR-21 score that stratifies early survival
-
Rossi S, Shimizu M, Barbarotto E, Nicoloso MS, Dimitri F, Sampath D et al. microRNA fingerprinting of CLL patients with chromosome 17p deletion identify a miR-21 score that stratifies early survival. Blood 2010; 116: 945-952.
-
(2010)
Blood
, vol.116
, pp. 945-952
-
-
Rossi, S.1
Shimizu, M.2
Barbarotto, E.3
Nicoloso, M.S.4
Dimitri, F.5
Sampath, D.6
-
30
-
-
84555192302
-
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
-
Graubert TA, Shen D, Ding L, Okeyo-Owuor T, Lunn CL, Shao J et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet 2012; 44: 53-57.
-
(2012)
Nat Genet
, vol.44
, pp. 53-57
-
-
Graubert, T.A.1
Shen, D.2
Ding, L.3
Okeyo-Owuor, T.4
Lunn, C.L.5
Shao, J.6
-
31
-
-
33745615399
-
Gene expression profiles of CD34\+ cells in myelodysplastic syndromes: Involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype
-
Pellagatti A, Cazzola M, Giagounidis AA, Malcovati L, Porta MG, Killick S et al. Gene expression profiles of CD34\+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype. Blood 2006; 108: 337-345.
-
(2006)
Blood
, vol.108
, pp. 337-345
-
-
Pellagatti, A.1
Cazzola, M.2
Giagounidis, A.A.3
Malcovati, L.4
Porta, M.G.5
Killick, S.6
-
32
-
-
23044440179
-
Long-term outcome of treatment of anemia in MDS with erythropoietin and G-CSF
-
Jadersten M, Montgomery SM, Dybedal I, Porwit-MacDonald A, Hellstrom-Lindberg E. Long-term outcome of treatment of anemia in MDS with erythropoietin and G-CSF. Blood 2005; 106: 803-811.
-
(2005)
Blood
, vol.106
, pp. 803-811
-
-
Jadersten, M.1
Montgomery, S.M.2
Dybedal, I.3
Porwit-Macdonald, A.4
Hellstrom-Lindberg, E.5
-
33
-
-
14944358625
-
Overexpression of mitochondrial ferritin causes cytosolic iron depletion and changes cellular iron homeostasis
-
Nie G, Sheftel AD, Kim SF, Ponka P. Overexpression of mitochondrial ferritin causes cytosolic iron depletion and changes cellular iron homeostasis. Blood 2005; 105: 2161-2167.
-
(2005)
Blood
, vol.105
, pp. 2161-2167
-
-
Nie, G.1
Sheftel, A.D.2
Kim, S.F.3
Ponka, P.4
-
34
-
-
19744364850
-
Hypochromic red blood cells in low-risk myelodysplastic syndromes: Effects of treatment with hemopoietic growth factors
-
Ljung T, Back R, Hellstrom-Lindberg E. Hypochromic red blood cells in low-risk myelodysplastic syndromes: effects of treatment with hemopoietic growth factors. Haematologica 2004; 89: 1446-1453.
-
(2004)
Haematologica
, vol.89
, pp. 1446-1453
-
-
Ljung, T.1
Back, R.2
Hellstrom-Lindberg, E.3
-
35
-
-
84875283054
-
High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms
-
doi: 10.3324/haematol.2012.072538
-
Jeromin S, Haferlach T, Grossmann V, Alpermann T, Kowarsch A, Haferlach C et al. High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms. Haematologica 2012 (doi: 10.3324/haematol.2012.072538).
-
(2012)
Haematologica
-
-
Jeromin, S.1
Haferlach, T.2
Grossmann, V.3
Alpermann, T.4
Kowarsch, A.5
Haferlach, C.6
-
36
-
-
84859597590
-
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
-
Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood 2012; 119: 3203-3210.
-
(2012)
Blood
, vol.119
, pp. 3203-3210
-
-
Makishima, H.1
Visconte, V.2
Sakaguchi, H.3
Jankowska, A.M.4
Abu Kar, S.5
Jerez, A.6
|