Literature DB >> 30573501

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

Rinske van Oorschot1, Anna E Marneth1, Saskia M Bergevoet1, Maaike G J M van Bergen1, Kathelijne Peerlinck2, Claire E Lentaigne3, Carolyn M Millar3,4, Sarah K Westbury5, Remi Favier6, Wendy N Erber7,8, Ernest Turro9,10,11,12, Joop H Jansen1, Willem H Ouwehand9,10,11,13,14,15, Harriet L McKinney9,10,11, Kate Downes9,10,11, Kathleen Freson2,11, Bert A van der Reijden16.   

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Year:  2018        PMID： 30573501      PMCID： PMC6545829          DOI： 10.3324/haematol.2018.207712

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  16 in total

1.  Epigenetic regulation of hematopoietic differentiation by Gfi-1 and Gfi-1b is mediated by the cofactors CoREST and LSD1.

Authors:  Shireen Saleque; Jonghwan Kim; Heather M Rooke; Stuart H Orkin
Journal:  Mol Cell       Date:  2007-08-17       Impact factor: 17.970

2.  GFI1B controls its own expression binding to multiple sites.

Authors:  Eduardo Anguita; Ana Villegas; Francisco Iborra; Aurora Hernández
Journal:  Haematologica       Date:  2009-09-22       Impact factor: 9.941

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

Authors:  Yuri Uchiyama; Yoshiyuki Ogawa; Shinji Kunishima; Masaaki Shiina; Mitsuko Nakashima; Kunio Yanagisawa; Akihiko Yokohama; Eri Imagawa; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Kazuhiro Ogata; Hiroshi Handa; Naomichi Matsumoto
Journal:  Br J Haematol       Date:  2017-04-25       Impact factor: 6.998

4.  Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

Authors:  Harald Schulze; Axel Schlagenhauf; Georgi Manukjan; Christine Beham-Schmid; Oliver Andres; Eva Klopocki; Eva-Maria König; Harald Haidl; Simon Panzer; Karina Althaus; Wolfgang E Muntean; Wolfgang Schwinger; Christian Urban; Andreas Greinacher; Tamam Bakchoul; Markus G Seidel
Journal:  Haematologica       Date:  2017-05-26       Impact factor: 9.941

5.  Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.

Authors:  K Kitamura; Y Okuno; K Yoshida; M Sanada; Y Shiraishi; H Muramatsu; R Kobayashi; K Furukawa; S Miyano; S Kojima; S Ogawa; S Kunishima
Journal:  J Thromb Haemost       Date:  2016-06-13       Impact factor: 5.824

6.  GFI1B mutation causes a bleeding disorder with abnormal platelet function.

Authors:  W S Stevenson; M-C Morel-Kopp; Q Chen; H P Liang; C J Bromhead; S Wright; R Turakulov; A P Ng; A W Roberts; M Bahlo; C M Ward
Journal:  J Thromb Haemost       Date:  2013-11       Impact factor: 5.824

7.  Transcriptional diversity during lineage commitment of human blood progenitors.

Authors:  Lu Chen; Myrto Kostadima; Joost H A Martens; Nicole Soranzo; Willem H Ouwehand; Hendrik G Stunnenberg; Mattia Frontini; Augusto Rendon; Giovanni Canu; Sara P Garcia; Ernest Turro; Kate Downes; Iain C Macaulay; Ewa Bielczyk-Maczynska; Sophia Coe; Samantha Farrow; Pawan Poudel; Frances Burden; Sjoert B G Jansen; William J Astle; Antony Attwood; Tadbir Bariana; Bernard de Bono; Alessandra Breschi; John C Chambers; Bridge Consortium; Fizzah A Choudry; Laura Clarke; Paul Coupland; Martijn van der Ent; Wendy N Erber; Joop H Jansen; Rémi Favier; Matthew E Fenech; Nicola Foad; Kathleen Freson; Chris van Geet; Keith Gomez; Roderic Guigo; Daniel Hampshire; Anne M Kelly; Hindrik H D Kerstens; Jaspal S Kooner; Michael Laffan; Claire Lentaigne; Charlotte Labalette; Tiphaine Martin; Stuart Meacham; Andrew Mumford; Sylvia Nürnberg; Emilio Palumbo; Bert A van der Reijden; David Richardson; Stephen J Sammut; Greg Slodkowicz; Asif U Tamuri; Louella Vasquez; Katrin Voss; Stephen Watt; Sarah Westbury; Paul Flicek; Remco Loos; Nick Goldman; Paul Bertone; Randy J Read; Sylvia Richardson; Ana Cvejic
Journal:  Science       Date:  2014-09-26       Impact factor: 47.728

8.  Direct transcriptional repression of the genes encoding the zinc-finger proteins Gfi1b and Gfi1 by Gfi1b.

Authors:  Lothar Vassen; Katharina Fiolka; Stefan Mahlmann; Tarik Möröy
Journal:  Nucleic Acids Res       Date:  2005-02-17       Impact factor: 16.971

9.  Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Authors:  Sarah K Westbury; Ernest Turro; Daniel Greene; Claire Lentaigne; Anne M Kelly; Tadbir K Bariana; Ilenia Simeoni; Xavier Pillois; Antony Attwood; Steve Austin; Sjoert Bg Jansen; Tamam Bakchoul; Abi Crisp-Hihn; Wendy N Erber; Rémi Favier; Nicola Foad; Michael Gattens; Jennifer D Jolley; Ri Liesner; Stuart Meacham; Carolyn M Millar; Alan T Nurden; Kathelijne Peerlinck; David J Perry; Pawan Poudel; Sol Schulman; Harald Schulze; Jonathan C Stephens; Bruce Furie; Peter N Robinson; Chris van Geet; Augusto Rendon; Keith Gomez; Michael A Laffan; Michele P Lambert; Paquita Nurden; Willem H Ouwehand; Sylvia Richardson; Andrew D Mumford; Kathleen Freson
Journal:  Genome Med       Date:  2015-04-09       Impact factor: 11.117

10.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
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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

Review 2.  Inherited thrombocytopenias: history, advances and perspectives.

Authors:  Alan T Nurden; Paquita Nurden
Journal:  Haematologica       Date:  2020-06-11       Impact factor: 9.941

3.  Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB.

Authors:  Maaike G J M van Bergen; Joline L Saes; Annet Simons; Konnie M Hebeda; Yvonne M C Henskens; Wideke Barteling; Erik Huys; Britta A P Laros-van Gorkom; Saskia E M Schols; Frank W Preijers; Marjolijn C J Jongmans; Joop H Jansen; Bert A van der Reijden
Journal:  Am J Hematol       Date:  2020-04-08       Impact factor: 10.047

Review 4.  Targeting the GFI1/1B-CoREST Complex in Acute Myeloid Leukemia.

Authors:  Maaike G J M van Bergen; Bert A van der Reijden
Journal:  Front Oncol       Date:  2019-10-09       Impact factor: 6.244

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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