Literature DB >> 26574608

Germline RBBP6 mutations in familial myeloproliferative neoplasms.

Ashot S Harutyunyan1, Roberto Giambruno1, Christian Krendl1, Alexey Stukalov1, Thorsten Klampfl1, Tiina Berg1, Doris Chen1, Jelena D Milosevic Feenstra1, Roland Jäger1, Bettina Gisslinger2, Heinz Gisslinger2, Elisa Rumi3, Francesco Passamonti4, Daniela Pietra3, André C Müller1, Katja Parapatics1, Florian P Breitwieser1, Richard Herrmann5, Jacques Colinge1, Keiryn L Bennett1, Giulio Superti-Furga1, Mario Cazzola3, Emma Hammond6, Robert Kralovics7.   

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Year:  2015        PMID: 26574608      PMCID: PMC5043418          DOI: 10.1182/blood-2015-09-668673

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  25 in total

1.  A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms.

Authors:  Damla Olcaydu; Ashot Harutyunyan; Roland Jäger; Tiina Berg; Bettina Gisslinger; Ingrid Pabinger; Heinz Gisslinger; Robert Kralovics
Journal:  Nat Genet       Date:  2009-03-15       Impact factor: 38.330

2.  Mutations of ASXL1 gene in myeloproliferative neoplasms.

Authors:  N Carbuccia; A Murati; V Trouplin; M Brecqueville; J Adélaïde; J Rey; W Vainchenker; O A Bernard; M Chaffanet; N Vey; D Birnbaum; M J Mozziconacci
Journal:  Leukemia       Date:  2009-07-16       Impact factor: 11.528

3.  Somatic mutations in calreticulin can be found in pedigrees with familial predisposition to myeloproliferative neoplasms.

Authors:  Pontus Lundberg; Ronny Nienhold; Achille Ambrosetti; Francisco Cervantes; Manuel M Pérez-Encinas; Radek C Skoda
Journal:  Blood       Date:  2014-04-24       Impact factor: 22.113

4.  Looking for CALR mutations in familial myeloproliferative neoplasms.

Authors:  M Maffioli; A Genoni; D Caramazza; B Mora; A Bussini; M Merli; T Giorgino; R Casalone; F Passamonti
Journal:  Leukemia       Date:  2014-01-20       Impact factor: 11.528

5.  DNMT3A mutations in acute myeloid leukemia.

Authors:  Timothy J Ley; Li Ding; Matthew J Walter; Michael D McLellan; Tamara Lamprecht; David E Larson; Cyriac Kandoth; Jacqueline E Payton; Jack Baty; John Welch; Christopher C Harris; Cheryl F Lichti; R Reid Townsend; Robert S Fulton; David J Dooling; Daniel C Koboldt; Heather Schmidt; Qunyuan Zhang; John R Osborne; Ling Lin; Michelle O'Laughlin; Joshua F McMichael; Kim D Delehaunty; Sean D McGrath; Lucinda A Fulton; Vincent J Magrini; Tammi L Vickery; Jasreet Hundal; Lisa L Cook; Joshua J Conyers; Gary W Swift; Jerry P Reed; Patricia A Alldredge; Todd Wylie; Jason Walker; Joelle Kalicki; Mark A Watson; Sharon Heath; William D Shannon; Nobish Varghese; Rakesh Nagarajan; Peter Westervelt; Michael H Tomasson; Daniel C Link; Timothy A Graubert; John F DiPersio; Elaine R Mardis; Richard K Wilson
Journal:  N Engl J Med       Date:  2010-11-10       Impact factor: 91.245

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.  Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders.

Authors:  Christine Bellanné-Chantelot; Isabelle Chaumarel; Myriam Labopin; Florence Bellanger; Véronique Barbu; Claudia De Toma; François Delhommeau; Nicole Casadevall; William Vainchenker; Gilles Thomas; Albert Najman
Journal:  Blood       Date:  2006-03-14       Impact factor: 22.113

8.  Mutation in TET2 in myeloid cancers.

Authors:  François Delhommeau; Sabrina Dupont; Véronique Della Valle; Chloé James; Severine Trannoy; Aline Massé; Olivier Kosmider; Jean-Pierre Le Couedic; Fabienne Robert; Antonio Alberdi; Yann Lécluse; Isabelle Plo; François J Dreyfus; Christophe Marzac; Nicole Casadevall; Catherine Lacombe; Serge P Romana; Philippe Dessen; Jean Soulier; Franck Viguié; Michaela Fontenay; William Vainchenker; Olivier A Bernard
Journal:  N Engl J Med       Date:  2009-05-28       Impact factor: 91.245

9.  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.  The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms.

Authors:  A Oddsson; S Y Kristinsson; H Helgason; D F Gudbjartsson; G Masson; A Sigurdsson; A Jonasdottir; A Jonasdottir; H Steingrimsdottir; B Vidarsson; S Reykdal; G I Eyjolfsson; I Olafsson; P T Onundarson; G Runarsson; O Sigurdardottir; A Kong; T Rafnar; P Sulem; U Thorsteinsdottir; K Stefansson
Journal:  Leukemia       Date:  2014-01-30       Impact factor: 11.528

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  17 in total

Review 1.  Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.

Authors:  Hartmut Döhner; Elihu Estey; David Grimwade; Sergio Amadori; Frederick R Appelbaum; Thomas Büchner; Hervé Dombret; Benjamin L Ebert; Pierre Fenaux; Richard A Larson; Ross L Levine; Francesco Lo-Coco; Tomoki Naoe; Dietger Niederwieser; Gert J Ossenkoppele; Miguel Sanz; Jorge Sierra; Martin S Tallman; Hwei-Fang Tien; Andrew H Wei; Bob Löwenberg; Clara D Bloomfield
Journal:  Blood       Date:  2016-11-28       Impact factor: 22.113

Review 2.  Familial MPN Predisposition.

Authors:  Tsewang Tashi; Sabina Swierczek; Josef T Prchal
Journal:  Curr Hematol Malig Rep       Date:  2017-10       Impact factor: 3.952

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.  Myeloproliferative neoplasms: from origins to outcomes.

Authors:  Jyoti Nangalia; Anthony R Green
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

5.  Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Authors:  Mary Frances McMullin
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 6.  Myeloid neoplasms with germline DDX41 mutation.

Authors:  Jesse J C Cheah; Christopher N Hahn; Devendra K Hiwase; Hamish S Scott; Anna L Brown
Journal:  Int J Hematol       Date:  2017-05-25       Impact factor: 2.490

Review 7.  Germ line mutations associated with leukemias.

Authors:  Christopher C Porter
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2016-12-02

Review 8.  Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

Authors:  Elisa Rumi; Mario Cazzola
Journal:  Blood       Date:  2016-12-27       Impact factor: 22.113

Review 9.  Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Authors:  Jeffery M Klco; Charles G Mullighan
Journal:  Nat Rev Cancer       Date:  2020-12-16       Impact factor: 60.716

10.  Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.

Authors:  Jean Pegliasco; Pierre Hirsch; Christophe Marzac; Françoise Isnard; Jean-Côme Meniane; Caroline Deswarte; Philippe Pellet; Céline Lemaitre; Gwendoline Leroy; Graciela Rabadan Moraes; Hélène Guermouche; Barbara Schmaltz-Panneau; Florence Pasquier; Chrystelle Colas; Patrick R Benusiglio; Odile Bera; Jean-Henri Bourhis; Eolia Brissot; Olivier Caron; Samy Chraibi; Pascale Cony-Makhoul; Christine Delaunay-Darivon; Simona Lapusan; Flore Sicre de Fontbrune; Pascal Fuseau; Albert Najman; William Vainchenker; François Delhommeau; Jean-Baptiste Micol; Isabelle Plo; Christine Bellanné-Chantelot
Journal:  Leukemia       Date:  2021-06-25       Impact factor: 11.528

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