Literature DB >> 23831919

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.

Valeria Visconte, Ali Tabarroki, Heesun J Rogers, Edy Hasrouni, Fabiola Traina, Hideki Makishima, Betty K Hamilton, Yang Liu, Christine O'Keefe, Alan Lichtin, Leonard Horwitz, Mikkael A Sekeres, Fred H Hsieh, Ramon V Tiu.   

Abstract

Entities:  

Keywords:  BMFS; MCD; MDS; SF3B1; mutations

Mesh：

Substances：

Year:  2013        PMID： 23831919      PMCID： PMC3762110          DOI： 10.3324/haematol.2013.090506

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

1.  T-cell immune responses to Wilms tumor 1 protein in myelodysplasia responsive to immunosuppressive therapy.

Authors:  Elaine M Sloand; J Joseph Melenhorst; Zachary C G Tucker; Loretta Pfannes; Jason M Brenchley; Agnes Yong; Valeria Visconte; Colin Wu; Emma Gostick; Phillip Scheinberg; Matthew J Olnes; Daniel C Douek; David A Price; A John Barrett; Neal S Young
Journal:  Blood       Date:  2010-11-19       Impact factor: 22.113

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

Authors:  Valeria Visconte; Heesun J Rogers; Jarnail Singh; John Barnard; Manoj Bupathi; Fabiola Traina; James McMahon; Hideki Makishima; Hadrian Szpurka; Anna Jankowska; Andres Jerez; Mikkael A Sekeres; Yogen Saunthararajah; Anjali S Advani; Edward Copelan; Haruhiko Koseki; Kyoichi Isono; Richard A Padgett; Sami Osman; Kazunori Koide; Christine O'Keefe; Jaroslaw P Maciejewski; Ramon V Tiu
Journal:  Blood       Date:  2012-07-23       Impact factor: 22.113

Review 3.  c-Kit and c-kit mutations in mastocytosis and other hematological diseases.

Authors:  M Boissan; F Feger; J J Guillosson; M Arock
Journal:  J Leukoc Biol       Date:  2000-02       Impact factor: 4.962

4.  Frequent pathway mutations of splicing machinery in myelodysplasia.

Authors:  Kenichi Yoshida; Masashi Sanada; Yuichi Shiraishi; Daniel Nowak; Yasunobu Nagata; Ryo Yamamoto; Yusuke Sato; Aiko Sato-Otsubo; Ayana Kon; Masao Nagasaki; George Chalkidis; Yutaka Suzuki; Masashi Shiosaka; Ryoichiro Kawahata; Tomoyuki Yamaguchi; Makoto Otsu; Naoshi Obara; Mamiko Sakata-Yanagimoto; Ken Ishiyama; Hiraku Mori; Florian Nolte; Wolf-Karsten Hofmann; Shuichi Miyawaki; Sumio Sugano; Claudia Haferlach; H Phillip Koeffler; Lee-Yung Shih; Torsten Haferlach; Shigeru Chiba; Hiromitsu Nakauchi; Satoru Miyano; Seishi Ogawa
Journal:  Nature       Date:  2011-09-11       Impact factor: 49.962

Review 5.  Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders.

Authors:  V Visconte; H Makishima; J P Maciejewski; R V Tiu
Journal:  Leukemia       Date:  2012-05-15       Impact factor: 11.528

6.  Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.

Authors:  Hideki Makishima; Valeria Visconte; Hirotoshi Sakaguchi; Anna M Jankowska; Sarah Abu Kar; Andres Jerez; Bartlomiej Przychodzen; Manoj Bupathi; Kathryn Guinta; Manuel G Afable; Mikkael A Sekeres; Richard A Padgett; Ramon V Tiu; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2012-02-09       Impact factor: 22.113

Review 7.  The spliceosome as a target of novel antitumour drugs.

Authors:  Sophie Bonnal; Luisa Vigevani; Juan Valcárcel
Journal:  Nat Rev Drug Discov       Date:  2012-11       Impact factor: 84.694

8.  Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.

Authors:  Timothy A Graubert; Dong Shen; Li Ding; Theresa Okeyo-Owuor; Cara L Lunn; Jin Shao; Kilannin Krysiak; Christopher C Harris; Daniel C Koboldt; David E Larson; Michael D McLellan; David J Dooling; Rachel M Abbott; Robert S Fulton; Heather Schmidt; Joelle Kalicki-Veizer; Michelle O'Laughlin; Marcus Grillot; Jack Baty; Sharon Heath; John L Frater; Talat Nasim; Daniel C Link; Michael H Tomasson; Peter Westervelt; John F DiPersio; Elaine R Mardis; Timothy J Ley; Richard K Wilson; Matthew J Walter
Journal:  Nat Genet       Date:  2011-12-11       Impact factor: 38.330

9.  Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation.

Authors:  C Sugimori; E Padron; G Caceres; K Shain; L Sokol; L Zhang; R Tiu; C L O'Keefe; M Afable; M Clemente; J M Lee; J P Maciejewski; A F List; P K Epling-Burnette; D J Araten
Journal:  Blood Cancer J       Date:  2012-03-23       Impact factor: 11.037

10.  Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.

Authors:  Fabiola Traina; Valeria Visconte; Anna M Jankowska; Hideki Makishima; Christine L O'Keefe; Paul Elson; Yingchun Han; Fred H Hsieh; Mikkael A Sekeres; Raghuveer Singh Mali; Matt Kalaycio; Alan E Lichtin; Anjali S Advani; Hien K Duong; Edward Copelan; Reuben Kapur; Sara T Olalla Saad; Jaroslaw P Maciejewski; Ramon V Tiu
Journal:  PLoS One       Date:  2012-08-15       Impact factor: 3.240
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  6 in total

1.  Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.

Authors:  V Visconte; N Avishai; R Mahfouz; A Tabarroki; J Cowen; R Sharghi-Moshtaghin; M Hitomi; H J Rogers; E Hasrouni; J Phillips; M A Sekeres; A H Heuer; Y Saunthararajah; J Barnard; R V Tiu
Journal:  Leukemia       Date:  2014-05-23       Impact factor: 11.528

2.  SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes.

Authors:  Katia Hanssens; Fabienne Brenet; Julie Agopian; Sophie Georgin-Lavialle; Gandhi Damaj; Laure Cabaret; Maria Olivia Chandesris; Paulo de Sepulveda; Olivier Hermine; Patrice Dubreuil; Erinn Soucie
Journal:  Haematologica       Date:  2014-01-03       Impact factor: 9.941

3.  Targeting the spliceosome in chronic lymphocytic leukemia with the macrolides FD-895 and pladienolide-B.

Authors:  Manoj K Kashyap; Deepak Kumar; Reymundo Villa; James J La Clair; Chris Benner; Roman Sasik; Harrison Jones; Emanuela M Ghia; Laura Z Rassenti; Thomas J Kipps; Michael D Burkart; Januario E Castro
Journal:  Haematologica       Date:  2015-04-10       Impact factor: 9.941

Review 4.  Pathogenesis of myelodysplastic syndromes: an overview of molecular and non-molecular aspects of the disease.

Authors:  Valeria Visconte; Ramon V Tiu; Heesun J Rogers
Journal:  Blood Res       Date:  2014-12-23

5.  Molecular pathogenesis of myelodysplastic syndromes.

Authors:  Valeria Visconte; Carmine Selleri; Jaroslaw P Maciejewski; Ramon V Tiu
Journal:  Transl Med UniSa       Date:  2014-02-04

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

Authors:  Valeria Visconte; Ali Tabarroki; Li Zhang; Yvonne Parker; Edy Hasrouni; Reda Mahfouz; Kyoichi Isono; Haruhiko Koseki; Mikkael A Sekeres; Yogen Saunthararajah; John Barnard; Daniel Lindner; Heesun J Rogers; Ramon V Tiu
Journal:  J Hematol Oncol       Date:  2014-12-07       Impact factor: 17.388
  6 in total

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