Literature DB >> 28439885

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.

Yuri Uchiyama1,2, Yoshiyuki Ogawa2, Shinji Kunishima3, Masaaki Shiina4, Mitsuko Nakashima1, Kunio Yanagisawa2, Akihiko Yokohama5, Eri Imagawa1, Satoko Miyatake1, Takeshi Mizuguchi1, Atsushi Takata1, Noriko Miyake1, Kazuhiro Ogata4, Hiroshi Handa2, Naomichi Matsumoto1.   

Abstract

Entities:  

Keywords:  zzm321990GFI1Bzzm321990; CD34 expression; congenital macrothrombocytopenia; giant platelets; megakaryocyte progenitor differentiation

Mesh：

Substances：

Year:  2017        PMID： 28439885     DOI： 10.1111/bjh.14710

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  6 in total

1.  Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.

Authors:  Aaron N Cheng; Erik L Bao; Claudia Fiorini; Vijay G Sankaran
Journal:  Pediatr Blood Cancer       Date:  2019-06-17       Impact factor: 3.167

2.  Growth Factor Independence 1B-Mediated Transcriptional Repression and Lineage Allocation Require Lysine-Specific Demethylase 1-Dependent Recruitment of the BHC Complex.

Authors:  David McClellan; Mattie J Casey; Diana Bareyan; Helena Lucente; Christopher Ours; Matthew Velinder; Jason Singer; Mehraju Din Lone; Wenxiang Sun; Yunuen Coria; Clinton C Mason; Michael E Engel
Journal:  Mol Cell Biol       Date:  2019-06-13       Impact factor: 4.272

3.  Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.

Authors:  Rinske van Oorschot; Anna E Marneth; Saskia M Bergevoet; Maaike G J M van Bergen; Kathelijne Peerlinck; Claire E Lentaigne; Carolyn M Millar; Sarah K Westbury; Remi Favier; Wendy N Erber; Ernest Turro; Joop H Jansen; Willem H Ouwehand; Harriet L McKinney; Kate Downes; Kathleen Freson; Bert A van der Reijden
Journal:  Haematologica       Date:  2018-12-20       Impact factor: 9.941

4.  Molecular mechanisms of bleeding disorderassociated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets.

Authors:  Rinske van Oorschot; Marten Hansen; Johanna M Koornneef; Anna E Marneth; Saskia M Bergevoet; Maaike G J M van Bergen; Floris P J van Alphen; Carmen van der Zwaan; Joost H A Martens; Michiel Vermeulen; Pascal W T C Jansen; Marijke P A Baltissen; Britta A P Laros-van Gorkom; Hans Janssen; Joop H Jansen; Marieke von Lindern; Alexander B Meijer; Emile van den Akker; Bert A van der Reijden
Journal:  Haematologica       Date:  2019-01-17       Impact factor: 9.941

5.  Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.

Authors:  Hugues Beauchemin; Peiman Shooshtharizadeh; Jordan Pinder; Graham Dellaire; Tarik Möröy
Journal:  Haematologica       Date:  2020-10-01       Impact factor: 9.941

6.  Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.

Authors:  Michela Faleschini; Nicole Papa; Marie-Christine Morel-Kopp; Caterina Marconi; Tania Giangregorio; Federica Melazzini; Valeria Bozzi; Marco Seri; Patrizia Noris; Alessandro Pecci; Anna Savoia; Roberta Bottega
Journal:  Haematologica       Date:  2022-01-01       Impact factor: 9.941
  6 in total

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