Literature DB >> 22748922

Mutational analysis of RNA splicing machinery components in 206 children with myeloid malignancies.

Hirotoshi Sakaguchi, Hideki Makishima, Hideki Muramatsu, Valeria Visconte, Andres Jerez, Anna M Jankowska, Ramon V Tiu, Jaroslaw P Maciejewski, Seiji Kojima.   

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Year:  2012        PMID： 22748922      PMCID： PMC4535703          DOI： 10.1016/j.leukres.2012.06.002

Source DB:  PubMed          Journal:  Leuk Res        ISSN： 0145-2126            Impact factor:   3.156


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  11 in total

1.  SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts.

Authors:  V Visconte; H Makishima; A Jankowska; H Szpurka; F Traina; A Jerez; C O'Keefe; H J Rogers; M A Sekeres; J P Maciejewski; R V Tiu
Journal:  Leukemia       Date:  2011-09-02       Impact factor: 11.528

2.  Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A.

Authors:  Anna M Jankowska; Hideki Makishima; Ramon V Tiu; Hadrian Szpurka; Yun Huang; Fabiola Traina; Valeria Visconte; Yuka Sugimoto; Courtney Prince; Christine O'Keefe; Eric D Hsi; Alan List; Mikkael A Sekeres; Anjana Rao; Michael A McDevitt; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2011-08-09       Impact factor: 22.113

3.  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

4.  Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML.

Authors:  Shinsuke Hirabayashi; Christian Flotho; Jessica Moetter; Michael Heuser; Henrik Hasle; Bernd Gruhn; Thomas Klingebiel; Felicitas Thol; Brigitte Schlegelberger; Irith Baumann; Brigitte Strahm; Jan Stary; Franco Locatelli; Marco Zecca; Eva Bergstraesser; Michael Dworzak; Marry M van den Heuvel-Eibrink; Barbara De Moerloose; Seishi Ogawa; Charlotte M Niemeyer; Marcin W Wlodarski
Journal:  Blood       Date:  2012-01-11       Impact factor: 22.113

5.  Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

Authors:  Benoîte Pérez; Olivier Kosmider; Bruno Cassinat; Aline Renneville; Julie Lachenaud; Sophie Kaltenbach; Yves Bertrand; André Baruchel; Christine Chomienne; Michaela Fontenay; Claude Preudhomme; Hélène Cavé
Journal:  Br J Haematol       Date:  2010-10-19       Impact factor: 6.998

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

7.  Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.

Authors:  Hideki Muramatsu; Hideki Makishima; Anna M Jankowska; Heather Cazzolli; Christine O'Keefe; Nao Yoshida; Yinyan Xu; Nobuhiro Nishio; Asahito Hama; Hiroshi Yagasaki; Yoshiyuki Takahashi; Koji Kato; Atsushi Manabe; Seiji Kojima; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2009-12-11       Impact factor: 22.113

8.  Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

Authors:  Mignon L Loh; Debbie S Sakai; Christian Flotho; Michelle Kang; Manfred Fliegauf; Sophie Archambeault; Charles G Mullighan; Leslie Chen; Eva Bergstraesser; Carlos E Bueso-Ramos; Peter D Emanuel; Henrik Hasle; Jean-Pierre Issa; Marry M van den Heuvel-Eibrink; Franco Locatelli; Jan Stary; Monica Trebo; Marcin Wlodarski; Marco Zecca; Kevin M Shannon; Charlotte M Niemeyer
Journal:  Blood       Date:  2009-07-01       Impact factor: 22.113

9.  Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia.

Authors:  Kazuyuki Matsuda; Kazuo Sakashita; Chiaki Taira; Miyuki Tanaka-Yanagisawa; Ryu Yanagisawa; Masaaki Shiohara; Hirokazu Kanegane; Daiichiro Hasegawa; Keiichiro Kawasaki; Mikiya Endo; Shuhei Yajima; Shinya Sasaki; Keisuke Kato; Kazutoshi Koike; Akira Kikuchi; Atsushi Ogawa; Akihiro Watanabe; Manabu Sotomatsu; Shigeaki Nonoyama; Kenichi Koike
Journal:  Br J Haematol       Date:  2009-10-29       Impact factor: 6.998

10.  Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Authors:  E Papaemmanuil; M Cazzola; J Boultwood; L Malcovati; P Vyas; D Bowen; A Pellagatti; J S Wainscoat; E Hellstrom-Lindberg; C Gambacorti-Passerini; A L Godfrey; I Rapado; A Cvejic; R Rance; C McGee; P Ellis; L J Mudie; P J Stephens; S McLaren; C E Massie; P S Tarpey; I Varela; S Nik-Zainal; H R Davies; A Shlien; D Jones; K Raine; J Hinton; A P Butler; J W Teague; E J Baxter; J Score; A Galli; M G Della Porta; E Travaglino; M Groves; S Tauro; N C Munshi; K C Anderson; A El-Naggar; A Fischer; V Mustonen; A J Warren; N C P Cross; A R Green; P A Futreal; M R Stratton; P J Campbell
Journal:  N Engl J Med       Date:  2011-09-26       Impact factor: 91.245
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