Literature DB >> 34469508

Association of unbalanced translocation der(1;7) with germline GATA2 mutations.

Emilia J Kozyra1,2, Gudrun Göhring3, Dennis D Hickstein4, Katherine R Calvo5, Courtney D DiNardo6, Michael Dworzak7, Valerie de Haas8, Jan Starý9, Henrik Hasle10, Akiko Shimamura11, Mark D Fleming12, Hiroto Inaba13, Sara Lewis14, Amy P Hsu15, Steven M Holland15, Danielle E Arnold4, Cristina Mecucci16, Siobán B Keel17, Alison A Bertuch18, Kiran Tawana19, Shlomit Barzilai20,21, Shinsuke Hirabayashi22, Masahiro Onozawa23, Shaohua Lei24, Helena Alaiz25, Hajnalka Andrikovics26, David Betts27, Berna H Beverloo8,28, Jochen Buechner29, Martin Čermák30, José Cervera31, Olga Haus32, Kirsi Jahnukainen33,34, Kalliopi N Manola35, Karin Nebral36, Francesco Pasquali37, Joelle Tchinda38, Dominik Turkiewicz39, Nadine Van Roy40, Zuzana Zemanova41, Victor B Pastor1, Brigitte Strahm1, Peter Noellke1, Charlotte M Niemeyer1,42, Brigitte Schlegelberger3, Ayami Yoshimi1, Marcin W Wlodarski1,14.   

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Year:  2021        PMID: 34469508      PMCID: PMC8662074          DOI: 10.1182/blood.2021012781

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


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  27 in total

1.  A case of GATA2-related myelodysplastic syndrome with unbalanced translocation der(1;7)(q10;p10).

Authors:  Takashi Kurata; Tomonari Shigemura; Hideki Muramatsu; Yusuke Okuno; Yozo Nakazawa
Journal:  Pediatr Blood Cancer       Date:  2017-01-09       Impact factor: 3.167

2.  A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing.

Authors:  Claudia Wehr; Katja Grotius; Silvia Casadei; Dorothee Bleckmann; Sebastian F N Bode; Björn C Frye; Maximilian Seidl; Suleyman Gulsuner; Mary-Claire King; Mary-Beth Percival; Colin C Pritchard; Tom Walsh; David Wu; Siobán Keel; Ulrich Salzer
Journal:  Blood       Date:  2018-07-20       Impact factor: 22.113

3.  A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.

Authors:  Lucy C Fox; Michelle Tan; Anna L Brown; Peer Arts; Ella Thompson; Georgina L Ryland; Jennifer Lickiss; Hamish S Scott; Nicola K Poplawski; Kerry Phillips; Neil A Came; Paul James; Stephen B Ting; David S Ritchie; Jeff Szer; Christopher N Hahn; Anthony Schwarer; Piers Blombery
Journal:  Br J Haematol       Date:  2020-06-03       Impact factor: 6.998

4.  Somatic genetic rescue in hematopoietic cells in GATA2 deficiency.

Authors:  Luiz Fernando B Catto; Gustavo Borges; André L Pinto; Diego V Clé; Fernando Chahud; Barbara A Santana; Flavia S Donaires; Rodrigo T Calado
Journal:  Blood       Date:  2020-08-20       Impact factor: 22.113

5.  Comprehensive analysis of isolated der(1;7)(q10;p10) in a large international homogenous cohort of patients with myelodysplastic syndromes.

Authors:  Christina Ganster; Catharina Müller-Thomas; Claudia Haferlach; Corinna Strupp; Kiyoyuki Ogata; Ulrich Germing; Barbara Hildebrandt; Mar Mallo; Michael Lübbert; Christel Müller; Francesc Solé; Katharina S Götze; Peter Vandenberghe; Gudrun Göhring; Tilman Steinmetz; Nicolaus Kröger; Uwe Platzbecker; Ulrike Söling; Sophie Raynaud; Katayoon Shirneshan; Julie Schanz; Detlef Haase
Journal:  Genes Chromosomes Cancer       Date:  2019-04-30       Impact factor: 5.006

6.  Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications.

Authors:  Fareeda Taher Nazer Hussain; Edward P Nguyen; Sania Raza; Ryan Knudson; Animesh Pardanani; Curtis A Hanson; Daniel Van Dyke; Ayalew Tefferi
Journal:  Am J Hematol       Date:  2012-05-06       Impact factor: 10.047

7.  Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Authors:  Christopher N Hahn; Chan-Eng Chong; Catherine L Carmichael; Ella J Wilkins; Peter J Brautigan; Xiao-Chun Li; Milena Babic; Ming Lin; Amandine Carmagnac; Young K Lee; Chung H Kok; Lucia Gagliardi; Kathryn L Friend; Paul G Ekert; Carolyn M Butcher; Anna L Brown; Ian D Lewis; L Bik To; Andrew E Timms; Jan Storek; Sarah Moore; Meryl Altree; Robert Escher; Peter G Bardy; Graeme K Suthers; Richard J D'Andrea; Marshall S Horwitz; Hamish S Scott
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

8.  Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Authors:  Juehua Gao; Ryan D Gentzler; Andrew E Timms; Marshall S Horwitz; Olga Frankfurt; Jessica K Altman; LoAnn C Peterson
Journal:  J Hematol Oncol       Date:  2015-12-29       Impact factor: 17.388

9.  Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Authors:  Emilia J Kozyra; Victor B Pastor; Stylianos Lefkopoulos; Sushree S Sahoo; Hauke Busch; Rebecca K Voss; Miriam Erlacher; Dirk Lebrecht; Enikoe A Szvetnik; Shinsuke Hirabayashi; Ramunė Pasaulienė; Lucia Pedace; Marco Tartaglia; Christian Klemann; Patrick Metzger; Melanie Boerries; Albert Catala; Henrik Hasle; Valerie de Haas; Krisztián Kállay; Riccardo Masetti; Barbara De Moerloose; Michael Dworzak; Markus Schmugge; Owen Smith; Jan Starý; Ester Mejstrikova; Marek Ussowicz; Emma Morris; Preeti Singh; Matthew Collin; Marta Derecka; Gudrun Göhring; Christian Flotho; Brigitte Strahm; Franco Locatelli; Charlotte M Niemeyer; Eirini Trompouki; Marcin W Wlodarski
Journal:  Leukemia       Date:  2020-06-18       Impact factor: 11.528

10.  Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Authors:  Victor B Pastor; Sushree S Sahoo; Jessica Boklan; Georg C Schwabe; Ebru Saribeyoglu; Brigitte Strahm; Dirk Lebrecht; Matthias Voss; Yenan T Bryceson; Miriam Erlacher; Gerhard Ehninger; Marena Niewisch; Brigitte Schlegelberger; Irith Baumann; John C Achermann; Akiko Shimamura; Jochen Hochrein; Ulf Tedgård; Lars Nilsson; Henrik Hasle; Melanie Boerries; Hauke Busch; Charlotte M Niemeyer; Marcin W Wlodarski
Journal:  Haematologica       Date:  2017-12-07       Impact factor: 9.941

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