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Items: 1 to 20 of 109

1.

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, O'Keefe C, Rogers HJ, Sekeres MA, Maciejewski JP, Tiu RV.

Leukemia. 2012 Mar;26(3):542-5. doi: 10.1038/leu.2011.232. No abstract available.

PMID:
21886174
2.

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts.

Conte S, Katayama S, Vesterlund L, Karimi M, Dimitriou M, Jansson M, Mortera-Blanco T, Unneberg P, Papaemmanuil E, Sander B, Skoog T, Campbell P, Walfridsson J, Kere J, Hellström-Lindberg E.

Br J Haematol. 2015 Nov;171(4):478-90. doi: 10.1111/bjh.13610.

3.

Refractory anemia with ring sideroblasts.

Malcovati L, Cazzola M.

Best Pract Res Clin Haematol. 2013 Dec;26(4):377-85. doi: 10.1016/j.beha.2013.09.005. Review.

PMID:
24507814
4.

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.

Malcovati L, Karimi M, Papaemmanuil E, Ambaglio I, Jädersten M, Jansson M, Elena C, Gallì A, Walldin G, Della Porta MG, Raaschou-Jensen K, Travaglino E, Kallenbach K, Pietra D, Ljungström V, Conte S, Boveri E, Invernizzi R, Rosenquist R, Campbell PJ, Cazzola M, Hellström Lindberg E.

Blood. 2015 Jul 9;126(2):233-41. doi: 10.1182/blood-2015-03-633537.

5.

Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.

Broséus J, Alpermann T, Wulfert M, Florensa Brichs L, Jeromin S, Lippert E, Rozman M, Lifermann F, Grossmann V, Haferlach T, Germing U, Luño E, Girodon F, Schnittger S; MPN and MPNr-EuroNet (COST Action BM0902)..

Leukemia. 2013 Sep;27(9):1826-31. doi: 10.1038/leu.2013.120.

PMID:
23594705
6.

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, Steensma DP, Pardanani A, Hanson CA, Tefferi A.

Blood. 2012 Jan 12;119(2):569-72. doi: 10.1182/blood-2011-09-377994.

7.

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.

Jeromin S, Haferlach T, Grossmann V, Alpermann T, Kowarsch A, Haferlach C, Kern W, Schnittger S.

Haematologica. 2013 Feb;98(2):e15-7. doi: 10.3324/haematol.2012.072538. No abstract available.

8.

SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.

Zhu Y, Li X, Chang C, Xu F, He Q, Guo J, Tao Y, Liu Y, Liu L, Shi W.

Leuk Res. 2016 May;44:8-16. doi: 10.1016/j.leukres.2016.02.011.

PMID:
26970172
9.

Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations.

Jeromin S, Haferlach T, Weissmann S, Meggendorfer M, Eder C, Nadarajah N, Alpermann T, Kohlmann A, Kern W, Haferlach C, Schnittger S.

Haematologica. 2015 Apr;100(4):e125-7. doi: 10.3324/haematol.2014.119032. No abstract available.

10.

[Gene mutation and myelodysplastic syndromes with ring sideroblast excess].

Meng FK, Huang LF, Zhou JF, Sun HY.

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Aug;21(4):1088-90. doi: 10.7534/j.issn.1009-2137.2013.04.053. Review. Chinese.

PMID:
23998618
11.

SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype.

Visconte V, Tabarroki A, Rogers HJ, Hasrouni E, Traina F, Makishima H, Hamilton BK, Liu Y, O'Keefe C, Lichtin A, Horwitz L, Sekeres MA, Hsieh FH, Tiu RV.

Haematologica. 2013 Sep;98(9):e105-7. doi: 10.3324/haematol.2013.090506. No abstract available.

12.

Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia.

Visconte V, Tabarroki A, Gerace CJ, Al-Issa K, Hsi ED, Rogers HJ, Sekeres MA, Silver BJ, Lichtin AE, Mukherjee S, Tiu RV.

Leuk Lymphoma. 2015 Jun;56(6):1888-90. doi: 10.3109/10428194.2014.976821. No abstract available.

PMID:
25330446
13.

Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts.

Seo JY, Lee KO, Kim SH, Kim K, Jung CW, Jang JH, Kim HJ.

Ann Hematol. 2014 Apr;93(4):603-8. doi: 10.1007/s00277-013-1915-x.

PMID:
24141330
14.

[A case report of RARS-T with SF3B1 and CALR mutations].

Ge H, Zhou Z, Chu H.

Zhonghua Xue Ye Xue Za Zhi. 2016 Apr;37(4):347. doi: 10.3760/cma.j.issn.0253-2727.2016.04.021. Chinese. No abstract available.

PMID:
27094003
15.

Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts.

Visconte V, Tabarroki A, Zhang L, Parker Y, Hasrouni E, Mahfouz R, Isono K, Koseki H, Sekeres MA, Saunthararajah Y, Barnard J, Lindner D, Rogers HJ, Tiu RV.

J Hematol Oncol. 2014 Dec 7;7:89. doi: 10.1186/s13045-014-0089-x.

16.

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).

Ohba R, Furuyama K, Yoshida K, Fujiwara T, Fukuhara N, Onishi Y, Manabe A, Ito E, Ozawa K, Kojima S, Ogawa S, Harigae H.

Ann Hematol. 2013 Jan;92(1):1-9. doi: 10.1007/s00277-012-1564-5.

17.

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.

Visconte V, Rogers HJ, Singh J, Barnard J, Bupathi M, Traina F, McMahon J, Makishima H, Szpurka H, Jankowska A, Jerez A, Sekeres MA, Saunthararajah Y, Advani AS, Copelan E, Koseki H, Isono K, Padgett RA, Osman S, Koide K, O'Keefe C, Maciejewski JP, Tiu RV.

Blood. 2012 Oct 18;120(16):3173-86. doi: 10.1182/blood-2012-05-430876.

18.

Refractory anemia with ring sideroblasts and RARS with thrombocytosis.

Patnaik MM, Tefferi A.

Am J Hematol. 2015 Jun;90(6):549-59. doi: 10.1002/ajh.24038. Review.

19.

Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.

del Rey M, Benito R, Fontanillo C, Campos-Laborie FJ, Janusz K, Velasco-Hernández T, Abáigar M, Hernández M, Cuello R, Borrego D, Martín-Zanca D, De Las Rivas J, Mills KI, Hernández-Rivas JM.

PLoS One. 2015 May 8;10(5):e0126555. doi: 10.1371/journal.pone.0126555.

20.

Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing.

Patnaik MM, Lasho TL, Finke CM, Hanson CA, King RL, Ketterling RP, Gangat N, Tefferi A.

Am J Hematol. 2016 May;91(5):492-8. doi: 10.1002/ajh.24332.

PMID:
26874914
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