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Literature DB >> 19029146

Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis.

Susanne Schnittger, Ulrike Bacher, Claudia Haferlach, Dietrich Beelen, Peter Bojko, Dieter Bürkle, Robert Dengler, Andrea Distelrath, Michael Eckart, Robert Eckert, Stefan Fries, Jan Knoblich, Georg Köchling, Hans-Peter Laubenstein, Petro Petrides, Manfred Planker, Rudolf Pihusch, Rudolf Weide, Wolfgang Kern, Torsten Haferlach.

Abstract

Entities: Disease Gene

Mesh：

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Year: 2008 PMID： 19029146 PMCID： PMC2625421 DOI： 10.3324/haematol.13224

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

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8 in total

1. Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E.

Authors: S Schnittger; U Bacher; W Kern; M Schröder; T Haferlach; C Schoch
Journal: Leukemia Date: 2006-07-27 Impact factor: 11.528

2. Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia.

Authors: Alessandro M Vannucchi; Elisabetta Antonioli; Paola Guglielmelli; Alessandro Pancrazzi; Vittoria Guerini; Giovanni Barosi; Marco Ruggeri; Giorgina Specchia; Francesco Lo-Coco; Federica Delaini; Laura Villani; Silvia Finotto; Emanuele Ammatuna; Renato Alterini; Valentina Carrai; Gloria Capaccioli; Simonetta Di Lollo; Vincenzo Liso; Alessandro Rambaldi; Alberto Bosi; Tiziano Barbui
Journal: Blood Date: 2008-06-02 Impact factor: 22.113

3. Anaemia characterises patients with myelofibrosis harbouring Mpl mutation.

Authors: Paola Guglielmelli; Alessandro Pancrazzi; Gaetano Bergamaschi; Vittorio Rosti; Laura Villani; Elisabetta Antonioli; Alberto Bosi; Giovanni Barosi; Alessandro M Vannucchi
Journal: Br J Haematol Date: 2007-05 Impact factor: 6.998

4. Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time.

Authors: Terra L Lasho; Animesh Pardanani; Rebecca F McClure; Ruben A Mesa; Ross L Levine; D Gary Gilliland; Ayalew Tefferi
Journal: Br J Haematol Date: 2006-12 Impact factor: 6.998

5. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.

Authors: Animesh D Pardanani; Ross L Levine; Terra Lasho; Yana Pikman; Ruben A Mesa; Martha Wadleigh; David P Steensma; Michelle A Elliott; Alexandra P Wolanskyj; William J Hogan; Rebecca F McClure; Mark R Litzow; D Gary Gilliland; Ayalew Tefferi
Journal: Blood Date: 2006-07-25 Impact factor: 22.113

6. Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis.

Authors: S Schnittger; U Bacher; C Haferlach; R Dengler; A Kröber; W Kern; T Haferlach
Journal: Leukemia Date: 2007-08-16 Impact factor: 11.528

7. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

Authors: Yana Pikman; Benjamin H Lee; Thomas Mercher; Elizabeth McDowell; Benjamin L Ebert; Maricel Gozo; Adam Cuker; Gerlinde Wernig; Sandra Moore; Ilene Galinsky; Daniel J DeAngelo; Jennifer J Clark; Stephanie J Lee; Todd R Golub; Martha Wadleigh; D Gary Gilliland; Ross L Levine
Journal: PLoS Med Date: 2006-07 Impact factor: 11.069

8. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.

Authors: Philip A Beer; Peter J Campbell; Linda M Scott; Anthony J Bench; Wendy N Erber; David Bareford; Bridget S Wilkins; John T Reilly; Hans C Hasselbalch; Richard Bowman; Keith Wheatley; Georgina Buck; Claire N Harrison; Anthony R Green
Journal: Blood Date: 2008-05-01 Impact factor: 22.113

8 in total

18 in total

1. Mutation status of essential thrombocythemia and primary myelofibrosis defines clinical outcome.

Authors: Julia Asp; Björn Andréasson; Ulrika Hansson; Carina Wasslavik; Johanna Abelsson; Peter Johansson; Lars Palmqvist
Journal: Haematologica Date: 2016-01-14 Impact factor: 9.941

2. Chasing down the triple-negative myeloproliferative neoplasms: Implications for molecular diagnostics.

Authors: Stephen E Langabeer
Journal: JAKSTAT Date: 2016-11-14

3. Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis.

Authors: J Broséus; E Lippert; A S Harutyunyan; S Jeromin; E Zipperer; L Florensa; J D Milosevic; T Haferlach; U Germing; E Luño; S Schnittger; R Kralovics; F Girodon
Journal: Leukemia Date: 2014-01-30 Impact factor: 11.528

Review 4. Genomic landscape of megakaryopoiesis and platelet function defects.

Authors: Elisa Bianchi; Ruggiero Norfo; Valentina Pennucci; Roberta Zini; Rossella Manfredini
Journal: Blood Date: 2016-01-19 Impact factor: 22.113

5. Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.

Authors: Daniela Pietra; Angela Brisci; Elisa Rumi; Sabrina Boggi; Chiara Elena; Alessandro Pietrelli; Roberta Bordoni; Maurizio Ferrari; Francesco Passamonti; Gianluca De Bellis; Laura Cremonesi; Mario Cazzola
Journal: Haematologica Date: 2011-01-12 Impact factor: 9.941

Review 6. Classification and diagnosis of myeloproliferative neoplasms according to the 2008 World Health Organization criteria.

Authors: Martha Wadleigh; Ayalew Tefferi
Journal: Int J Hematol Date: 2010-02-27 Impact factor: 2.490

7. The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.

Authors: Amy V Jones; Peter J Campbell; Philip A Beer; Susanne Schnittger; Alessandro M Vannucchi; Katerina Zoi; Melanie J Percy; Mary Frances McMullin; Linda M Scott; William Tapper; Richard T Silver; David Oscier; Claire N Harrison; Harald Grallert; Aliaksei Kisialiou; Paul Strike; Andrew J Chase; Anthony R Green; Nicholas C P Cross
Journal: Blood Date: 2010-03-19 Impact factor: 22.113