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Literature DB >> 24441291

Looking for CALR mutations in familial myeloproliferative neoplasms.

M Maffioli¹, A Genoni², D Caramazza¹, B Mora¹, A Bussini², M Merli¹, T Giorgino³, R Casalone², F Passamonti¹.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 24441291 DOI： 10.1038/leu.2014.33

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

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15 in total

1. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.

Authors: Francesco Passamonti; Chiara Elena; Susanne Schnittger; Radek C Skoda; Anthony R Green; François Girodon; Jean-Jacques Kiladjian; Mary Frances McMullin; Marco Ruggeri; Carles Besses; Alessandro M Vannucchi; Eric Lippert; Heinz Gisslinger; Elisa Rumi; Thomas Lehmann; Christina A Ortmann; Daniela Pietra; Cristiana Pascutto; Torsten Haferlach; Mario Cazzola
Journal: Blood Date: 2011-01-11 Impact factor: 22.113

2. Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.

Authors: Sandra Malak; Myriam Labopin; Cecile Saint-Martin; Christine Bellanne-Chantelot; Albert Najman
Journal: Blood Cells Mol Dis Date: 2012-07-19 Impact factor: 3.039

3. 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

4. Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation.

Authors: Elisa Rumi; Francesco Passamonti; Matteo G Della Porta; Chiara Elena; Luca Arcaini; Laura Vanelli; Cecilia Del Curto; Daniela Pietra; Emanuela Boveri; Cristiana Pascutto; Mario Cazzola; Mario Lazzarino
Journal: J Clin Oncol Date: 2007-11-12 Impact factor: 44.544

5. Mutations and prognosis in primary myelofibrosis.

Authors: A M Vannucchi; T L Lasho; P Guglielmelli; F Biamonte; A Pardanani; A Pereira; C Finke; J Score; N Gangat; C Mannarelli; R P Ketterling; G Rotunno; R A Knudson; M C Susini; R R Laborde; A Spolverini; A Pancrazzi; L Pieri; R Manfredini; E Tagliafico; R Zini; A Jones; K Zoi; A Reiter; A Duncombe; D Pietra; E Rumi; F Cervantes; G Barosi; M Cazzola; N C P Cross; A Tefferi
Journal: Leukemia Date: 2013-04-26 Impact factor: 11.528

6. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel.

Authors: Ayalew Tefferi; Juergen Thiele; Attilio Orazi; Hans Michael Kvasnicka; Tiziano Barbui; Curtis A Hanson; Giovanni Barosi; Srdan Verstovsek; Gunnar Birgegard; Ruben Mesa; John T Reilly; Heinz Gisslinger; Alessandro M Vannucchi; Francisco Cervantes; Guido Finazzi; Ronald Hoffman; D Gary Gilliland; Clara D Bloomfield; James W Vardiman
Journal: Blood Date: 2007-05-08 Impact factor: 22.113

7. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis.

Authors: A Tefferi; A Pardanani; K-H Lim; O Abdel-Wahab; T L Lasho; J Patel; N Gangat; C M Finke; S Schwager; A Mullally; C-Y Li; C A Hanson; R Mesa; O Bernard; F Delhommeau; W Vainchenker; D G Gilliland; R L Levine
Journal: Leukemia Date: 2009-03-05 Impact factor: 11.528

8. Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.

Authors: Elisa Rumi; Daniela Pietra; Paola Guglielmelli; Roberta Bordoni; Ilaria Casetti; Chiara Milanesi; Emanuela Sant'Antonio; Virginia Ferretti; Alessandro Pancrazzi; Giada Rotunno; Marco Severgnini; Alessandro Pietrelli; Cesare Astori; Elena Fugazza; Cristiana Pascutto; Emanuela Boveri; Francesco Passamonti; Gianluca De Bellis; Alessandro Vannucchi; Mario Cazzola
Journal: Blood Date: 2013-04-10 Impact factor: 22.113

9. Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies.

Authors: Francesco Passamonti; Margherita Maffioli; Domenica Caramazza; Mario Cazzola
Journal: Oncotarget Date: 2011-06

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

10 in total

1. Germline RBBP6 mutations in familial myeloproliferative neoplasms.

Authors: Ashot S Harutyunyan; Roberto Giambruno; Christian Krendl; Alexey Stukalov; Thorsten Klampfl; Tiina Berg; Doris Chen; Jelena D Milosevic Feenstra; Roland Jäger; Bettina Gisslinger; Heinz Gisslinger; Elisa Rumi; Francesco Passamonti; Daniela Pietra; André C Müller; Katja Parapatics; Florian P Breitwieser; Richard Herrmann; Jacques Colinge; Keiryn L Bennett; Giulio Superti-Furga; Mario Cazzola; Emma Hammond; Robert Kralovics
Journal: Blood Date: 2015-11-16 Impact factor: 22.113

2. Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution.

Authors: X Cabagnols; J P Defour; V Ugo; J C Ianotto; P Mossuz; J Mondet; F Girodon; J H Alexandre; O Mansier; J F Viallard; E Lippert; A Murati; M J Mozziconacci; P Saussoy; M C Vekemans; L Knoops; F Pasquier; V Ribrag; E Solary; I Plo; S N Constantinescu; N Casadevall; W Vainchenker; C Marzac; O Bluteau
Journal: Leukemia Date: 2014-09-12 Impact factor: 11.528

3. Buccal epithelial cells display somatic, bone marrow-derived CALR mutation.

Authors: Scott R Gilles; Linda B Baughn; Matthew L Schomaker; Elizabeth L Courville; Andrew C Nelson; Zohar Sachs
Journal: Blood Adv Date: 2017-11-16

Review 4. Update from the latest WHO classification of MPNs: a user's manual.

Authors: Francesco Passamonti; Margherita Maffioli
Journal: Hematology Am Soc Hematol Educ Program Date: 2016-12-02

5. Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.

Authors: Stephen E Langabeer; Karl Haslam; Jennifer Linders; Melanie J Percy; Eibhlin Conneally; Amjad Hayat; Brian Hennessy; Maeve Leahy; Karen Murphy; Margaret Murray; Fionnuala Ni Ainle; Patrick Thornton; Jeremy Sargent
Journal: Fam Cancer Date: 2014-12 Impact factor: 2.375

6. Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations.

Authors: Hajnalka Andrikovics; Tunde Krahling; Katalin Balassa; Gabriella Halm; Andras Bors; Magdalena Koszarska; Arpad Batai; Janos Dolgos; Judit Csomor; Miklos Egyed; Andrea Sipos; Peter Remenyi; Attila Tordai; Tamas Masszi
Journal: Haematologica Date: 2014-06-03 Impact factor: 9.941