Literature DB >> 28631176

Familial predisposition of myeloid malignancies: biological and clinical significance of recurrent germ line mutations.

Hirotaka Matsui1.   

Abstract

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Year:  2017        PMID: 28631176     DOI: 10.1007/s12185-017-2284-3

Source DB:  PubMed          Journal:  Int J Hematol        ISSN: 0925-5710            Impact factor:   2.490


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  13 in total

1.  Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Authors:  Amy P Hsu; Elizabeth P Sampaio; Javed Khan; Katherine R Calvo; Jacob E Lemieux; Smita Y Patel; David M Frucht; Donald C Vinh; Roger D Auth; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Christa S Zerbe; Christine Spalding; Stefania Pittaluga; Mark Raffeld; Douglas B Kuhns; Li Ding; Michelle L Paulson; Beatriz E Marciano; Juan C Gea-Banacloche; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal:  Blood       Date:  2011-06-13       Impact factor: 22.113

2.  Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Authors:  Michael Y Zhang; Jane E Churpek; Siobán B Keel; Tom Walsh; Ming K Lee; Keith R Loeb; Suleyman Gulsuner; Colin C Pritchard; Marilyn Sanchez-Bonilla; Jeffrey J Delrow; Ryan S Basom; Melissa Forouhar; Boglarka Gyurkocza; Bradford S Schwartz; Barbara Neistadt; Rafael Marquez; Christopher J Mariani; Scott A Coats; Inga Hofmann; R Coleman Lindsley; David A Williams; Janis L Abkowitz; Marshall S Horwitz; Mary-Claire King; Lucy A Godley; Akiko Shimamura
Journal:  Nat Genet       Date:  2015-01-12       Impact factor: 38.330

3.  Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Authors:  W J Song; M G Sullivan; R D Legare; S Hutchings; X Tan; D Kufrin; J Ratajczak; I C Resende; C Haworth; R Hock; M Loh; C Felix; D C Roy; L Busque; D Kurnit; C Willman; A M Gewirtz; N A Speck; J H Bushweller; F P Li; K Gardiner; M Poncz; J M Maris; D G Gilliland
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

Review 4.  Myeloid neoplasms with germ line RUNX1 mutation.

Authors:  Yoshihiro Hayashi; Yuka Harada; Gang Huang; Hironori Harada
Journal:  Int J Hematol       Date:  2017-05-22       Impact factor: 2.490

5.  Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Authors:  Maya Lewinsohn; Anna L Brown; Luke M Weinel; Connie Phung; George Rafidi; Ming K Lee; Andreas W Schreiber; Jinghua Feng; Milena Babic; Chan-Eng Chong; Young Lee; Agnes Yong; Graeme K Suthers; Nicola Poplawski; Meryl Altree; Kerry Phillips; Louise Jaensch; Miriam Fine; Richard J D'Andrea; Ian D Lewis; Bruno C Medeiros; Daniel A Pollyea; Mary-Claire King; Tom Walsh; Siobán Keel; Akiko Shimamura; Lucy A Godley; Christopher N Hahn; Jane E Churpek; Hamish S Scott
Journal:  Blood       Date:  2015-12-28       Impact factor: 22.113

6.  Biological implications of somatic DDX41 p.R525H mutation in acute myeloid leukemia.

Authors:  Moe Kadono; Akinori Kanai; Akiko Nagamachi; Satoru Shinriki; Jin Kawata; Koji Iwato; Taiichi Kyo; Kumi Oshima; Akihiko Yokoyama; Takeshi Kawamura; Reina Nagase; Daichi Inoue; Toshio Kitamura; Toshiya Inaba; Tatsuo Ichinohe; Hirotaka Matsui
Journal:  Exp Hematol       Date:  2016-05-09       Impact factor: 3.084

Review 7.  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 8.  Heterogeneity of GATA2-related myeloid neoplasms.

Authors:  Shinsuke Hirabayashi; Marcin W Wlodarski; Emilia Kozyra; Charlotte M Niemeyer
Journal:  Int J Hematol       Date:  2017-06-22       Impact factor: 2.490

Review 9.  The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.

Authors:  Daniel A Arber; Attilio Orazi; Robert Hasserjian; Jürgen Thiele; Michael J Borowitz; Michelle M Le Beau; Clara D Bloomfield; Mario Cazzola; James W Vardiman
Journal:  Blood       Date:  2016-04-11       Impact factor: 22.113

10.  Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Authors:  Marcin W Wlodarski; Shinsuke Hirabayashi; Victor Pastor; Jan Starý; Henrik Hasle; Riccardo Masetti; Michael Dworzak; Markus Schmugge; Marry van den Heuvel-Eibrink; Marek Ussowicz; Barbara De Moerloose; Albert Catala; Owen P Smith; Petr Sedlacek; Arjan C Lankester; Marco Zecca; Victoria Bordon; Susanne Matthes-Martin; Jonas Abrahamsson; Jörn Sven Kühl; Karl-Walter Sykora; Michael H Albert; Bartlomiej Przychodzien; Jaroslaw P Maciejewski; Stephan Schwarz; Gudrun Göhring; Brigitte Schlegelberger; Annámaria Cseh; Peter Noellke; Ayami Yoshimi; Franco Locatelli; Irith Baumann; Brigitte Strahm; Charlotte M Niemeyer
Journal:  Blood       Date:  2015-12-23       Impact factor: 22.113

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