Literature DB >> 24476766

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

J Broséus1, E Lippert2, A S Harutyunyan3, S Jeromin4, E Zipperer5, L Florensa6, J D Milosevic3, T Haferlach4, U Germing5, E Luño7, S Schnittger4, R Kralovics3, F Girodon8.   

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Year:  2014        PMID： 24476766     DOI： 10.1038/leu.2014.49

Source DB:  PubMed          Journal:  Leukemia        ISSN： 0887-6924            Impact factor:   11.528


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  14 in total

1.  The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera.

Authors:  Eric Lippert; Marjorie Boissinot; Robert Kralovics; François Girodon; Irène Dobo; Vincent Praloran; Nathalie Boiret-Dupré; Radek C Skoda; Sylvie Hermouet
Journal:  Blood       Date:  2006-05-25       Impact factor: 22.113

2.  Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis.

Authors:  Julien Broseus; Lourdes Florensa; Esther Zipperer; Susanne Schnittger; Luca Malcovati; Steven Richebourg; Eric Lippert; Jaroslav Cermak; Jyoti Evans; Morgane Mounier; José Maria Raya; François Bailly; Norbert Gattermann; Torsten Haferlach; Richard Garand; Kaoutar Allou; Carlos Besses; Ulrich Germing; Claudia Haferlach; Erica Travaglino; Elisa Luno; Maria Angeles Pinan; Leonor Arenillas; Maria Rozman; Maria Luz Perez Sirvent; Bernardine Favre; Julien Guy; Esther Alonso; Nuhri Ahwij; Andrés Jerez; Sylvie Hermouet; Marc Maynadié; Mario Cazzola; François Girodon
Journal:  Haematologica       Date:  2012-04-24       Impact factor: 9.941

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

Authors:  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
Journal:  Haematologica       Date:  2008-11-23       Impact factor: 9.941

4.  MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count.

Authors:  David P Steensma; Jonathan S C Caudill; Animesh Pardanani; Rebecca F McClure; Terra L Lasho; Ayalew Tefferi
Journal:  Haematologica       Date:  2006-12       Impact factor: 9.941

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.  Somatic mutations of calreticulin in myeloproliferative neoplasms.

Authors:  Thorsten Klampfl; Heinz Gisslinger; Ashot S Harutyunyan; Harini Nivarthi; Elisa Rumi; Jelena D Milosevic; Nicole C C Them; Tiina Berg; Bettina Gisslinger; Daniela Pietra; Doris Chen; Gregory I Vladimer; Klaudia Bagienski; Chiara Milanesi; Ilaria Carola Casetti; Emanuela Sant'Antonio; Virginia Ferretti; Chiara Elena; Fiorella Schischlik; Ciara Cleary; Melanie Six; Martin Schalling; Andreas Schönegger; Christoph Bock; Luca Malcovati; Cristiana Pascutto; Giulio Superti-Furga; Mario Cazzola; Robert Kralovics
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245

7.  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

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

Authors:  J Broséus; T Alpermann; M Wulfert; L Florensa Brichs; S Jeromin; E Lippert; M Rozman; F Lifermann; V Grossmann; T Haferlach; U Germing; E Luño; F Girodon; S Schnittger
Journal:  Leukemia       Date:  2013-04-18       Impact factor: 11.528

9.  Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Authors:  Susanne Schnittger; Ulrike Bacher; Claudia Haferlach; Thomas Geer; Peter Müller; Johann Mittermüller; Petro Petrides; Rudolf Schlag; Reiner Sandner; Johannes Selbach; Hans Rainer Slawik; Hans Werner Tessen; Jürgen Wehmeyer; Wolfgang Kern; Torsten Haferlach
Journal:  Haematologica       Date:  2009-03       Impact factor: 9.941

10.  Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

Authors:  J Nangalia; C E Massie; E J Baxter; F L Nice; G Gundem; D C Wedge; E Avezov; J Li; K Kollmann; D G Kent; A Aziz; A L Godfrey; J Hinton; I Martincorena; P Van Loo; A V Jones; P Guglielmelli; P Tarpey; H P Harding; J D Fitzpatrick; C T Goudie; C A Ortmann; S J Loughran; K Raine; D R Jones; A P Butler; J W Teague; S O'Meara; S McLaren; M Bianchi; Y Silber; D Dimitropoulou; D Bloxham; L Mudie; M Maddison; B Robinson; C Keohane; C Maclean; K Hill; K Orchard; S Tauro; M-Q Du; M Greaves; D Bowen; B J P Huntly; C N Harrison; N C P Cross; D Ron; A M Vannucchi; E Papaemmanuil; P J Campbell; A R Green
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245
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  19 in total

Review 1.  Calreticulin (CALR) mutation in myeloproliferative neoplasms (MPNs).

Authors:  Wenyi Luo; Zhongxin Yu
Journal:  Stem Cell Investig       Date:  2015-08-31

2.  Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations.

Authors:  Carla Al Assaf; Florence Van Obbergh; Johan Billiet; Els Lierman; Timothy Devos; Carlos Graux; Anne-Sophie Hervent; Jan Emmerechts; Thomas Tousseyn; Pascale De Paepe; Petros Papadopoulos; Lucienne Michaux; Peter Vandenberghe
Journal:  Haematologica       Date:  2015-05-01       Impact factor: 9.941

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

Authors:  Sabine Jeromin; Torsten Haferlach; Sandra Weissmann; Manja Meggendorfer; Christiane Eder; Niroshan Nadarajah; Tamara Alpermann; Alexander Kohlmann; Wolfgang Kern; Claudia Haferlach; Susanne Schnittger
Journal:  Haematologica       Date:  2014-12-19       Impact factor: 9.941

4.  Coexisting JAK2V617F and CALR Exon 9 Mutation in Essential Thrombocythemia.

Authors:  Munazza Rashid; Rifat Zubair Ahmed; Shariq Ahmed; Muhammad Nadeem; Nuzhat Ahmed; Tahir Sultan Shamsi
Journal:  Indian J Hematol Blood Transfus       Date:  2016-02-09       Impact factor: 0.900

5.  Clinical and biological characterization of patients with low (0.1-2%) JAK2V617F allele burden at diagnosis.

Authors:  Eric Lippert; Olivier Mansier; Marina Migeon; Barbara Denys; Asa Nilsson; Carolina Rosmond; Laurence Lodé; Valérie Ugo; Axelle Lascaux; Beatriz Bellosillo; Joaquin Martinez-Lopez; Dina Naguib; Nathalie Gachard; Nicolas Maroc; Sylvie Hermouet
Journal:  Haematologica       Date:  2014-05-16       Impact factor: 9.941

6.  Low frequency of calreticulin mutations in MDS patients.

Authors:  M Heuser; V Panagiota; C Koenecke; B Fehse; H Alchalby; A Badbaran; R Shahswar; M Stadler; M Eder; G Göhring; A Trummer; T Schroeder; G Kobbe; C Thiede; U Platzbecker; B Schlegelberger; N Kroeger; A Ganser; F Thol
Journal:  Leukemia       Date:  2014-05-21       Impact factor: 11.528

Review 7.  Nuances of Morphology in Myelodysplastic Diseases in the Age of Molecular Diagnostics.

Authors:  Aaron C Shaver; Adam C Seegmiller
Journal:  Curr Hematol Malig Rep       Date:  2017-10       Impact factor: 3.952

Review 8.  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

9.  Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms.

Authors:  Laura Palomo; Manja Meggendorfer; Stephan Hutter; Sven Twardziok; Vera Ademà; Irene Fuhrmann; Francisco Fuster-Tormo; Blanca Xicoy; Lurdes Zamora; Pamela Acha; Cassandra M Kerr; Wolfgang Kern; Jaroslaw P Maciejewski; Francesc Solé; Claudia Haferlach; Torsten Haferlach
Journal:  Blood       Date:  2020-10-15       Impact factor: 22.113

Review 10.  An Exercise in Extrapolation: Clinical Management of Atypical CML, MDS/MPN-Unclassifiable, and MDS/MPN-RS-T.

Authors:  Chetasi Talati; Eric Padron
Journal:  Curr Hematol Malig Rep       Date:  2016-12       Impact factor: 3.952
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