Literature DB >> 28550182

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

Harald Schulze1, Axel Schlagenhauf2, Georgi Manukjan3, Christine Beham-Schmid4, Oliver Andres5, Eva Klopocki6, Eva-Maria König6, Harald Haidl2, Simon Panzer7, Karina Althaus8, Wolfgang E Muntean2, Wolfgang Schwinger9, Christian Urban9, Andreas Greinacher8, Tamam Bakchoul8, Markus G Seidel9,10.   

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Year:  2017        PMID: 28550182      PMCID: PMC5685231          DOI: 10.3324/haematol.2017.167957

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


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  16 in total

1.  A short Gfi-1B isoform controls erythroid differentiation by recruiting the LSD1-CoREST complex through the dimethylation of its SNAG domain.

Authors:  Benoît Laurent; Voahangy Randrianarison-Huetz; Emilie Frisan; Charlotte Andrieu-Soler; Eric Soler; Michaela Fontenay; Isabelle Dusanter-Fourt; Dominique Duménil
Journal:  J Cell Sci       Date:  2012-03-07       Impact factor: 5.285

2.  Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Authors:  Carlos R Ferreira; Dong Chen; Shirley M Abraham; David R Adams; Karen L Simon; May C Malicdan; Thomas C Markello; Meral Gunay-Aygun; William A Gahl
Journal:  Mol Genet Metab       Date:  2016-12-18       Impact factor: 4.797

3.  Platelet CD34 expression and α/δ-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders.

Authors:  Anna E Marneth; Waander L van Heerde; Konnie M Hebeda; Britta A P Laros-van Gorkom; Wideke Barteling; Brigith Willemsen; Aniek O de Graaf; Annet Simons; Joop H Jansen; Frank Preijers; Marjolijn C Jongmans; Bert A van der Reijden
Journal:  Blood       Date:  2017-01-17       Impact factor: 22.113

4.  Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

Authors:  Linda M Polfus; Rajiv K Khajuria; Ursula M Schick; Nathan Pankratz; Raha Pazoki; Jennifer A Brody; Ming-Huei Chen; Paul L Auer; James S Floyd; Jie Huang; Leslie Lange; Frank J A van Rooij; Richard A Gibbs; Ginger Metcalf; Donna Muzny; Narayanan Veeraraghavan; Klaudia Walter; Lu Chen; Lisa Yanek; Lewis C Becker; Gina M Peloso; Aoi Wakabayashi; Mart Kals; Andres Metspalu; Tõnu Esko; Keolu Fox; Robert Wallace; Nora Franceschini; Nena Matijevic; Kenneth M Rice; Traci M Bartz; Leo-Pekka Lyytikäinen; Mika Kähönen; Terho Lehtimäki; Olli T Raitakari; Ruifang Li-Gao; Dennis O Mook-Kanamori; Guillaume Lettre; Cornelia M van Duijn; Oscar H Franco; Stephen S Rich; Fernando Rivadeneira; Albert Hofman; André G Uitterlinden; James G Wilson; Bruce M Psaty; Nicole Soranzo; Abbas Dehghan; Eric Boerwinkle; Xiaoling Zhang; Andrew D Johnson; Christopher J O'Donnell; Jill M Johnsen; Alexander P Reiner; Santhi K Ganesh; Vijay G Sankaran
Journal:  Am J Hum Genet       Date:  2016-09-01       Impact factor: 11.025

5.  Gfi-1 encodes a nuclear zinc finger protein that binds DNA and functions as a transcriptional repressor.

Authors:  P A Zweidler-Mckay; H L Grimes; M M Flubacher; P N Tsichlis
Journal:  Mol Cell Biol       Date:  1996-08       Impact factor: 4.272

6.  A dominant-negative GFI1B mutation in the gray platelet syndrome.

Authors:  Davide Monteferrario; Nikhita A Bolar; Anna E Marneth; Konnie M Hebeda; Saskia M Bergevoet; Hans Veenstra; Britta A P Laros-van Gorkom; Marius A MacKenzie; Cyrus Khandanpour; Lacramiora Botezatu; Erik Fransen; Guy Van Camp; Anthonie L Duijnhouwer; Simone Salemink; Brigith Willemsen; Gerwin Huls; Frank Preijers; Waander Van Heerde; Joop H Jansen; Marlies J E Kempers; Bart L Loeys; Lut Van Laer; Bert A Van der Reijden
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245

7.  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

8.  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

9.  Distinct, strict requirements for Gfi-1b in adult bone marrow red cell and platelet generation.

Authors:  Adlen Foudi; Daniel J Kramer; Jinzhong Qin; Denise Ye; Anna-Sophie Behlich; Scott Mordecai; Frederic I Preffer; Arnaud Amzallag; Sridhar Ramaswamy; Konrad Hochedlinger; Stuart H Orkin; Hanno Hock
Journal:  J Exp Med       Date:  2014-04-07       Impact factor: 14.307

10.  Growth factor independence 1b (gfi1b) is important for the maturation of erythroid cells and the regulation of embryonic globin expression.

Authors:  Lothar Vassen; Hugues Beauchemin; Wafaa Lemsaddek; Joseph Krongold; Marie Trudel; Tarik Möröy
Journal:  PLoS One       Date:  2014-05-06       Impact factor: 3.240

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  8 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.  Genetics of inherited thrombocytopenias.

Authors:  Julia T Warren; Jorge Di Paola
Journal:  Blood       Date:  2022-06-02       Impact factor: 25.476

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.  Gfi1b: a key player in the genesis and maintenance of acute myeloid leukemia and myelodysplastic syndrome.

Authors:  Aniththa Thivakaran; Lacramioara Botezatu; Judith M Hönes; Judith Schütte; Lothar Vassen; Yahya S Al-Matary; Pradeep Patnana; Amos Zeller; Michael Heuser; Felicitas Thol; Razif Gabdoulline; Nadine Olberding; Daria Frank; Marina Suslo; Renata Köster; Klaus Lennartz; Andre Görgens; Bernd Giebel; Bertram Opalka; Ulrich Dührsen; Cyrus Khandanpour
Journal:  Haematologica       Date:  2018-01-11       Impact factor: 9.941

5.  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

Review 6.  Multifaceted Actions of GFI1 and GFI1B in Hematopoietic Stem Cell Self-Renewal and Lineage Commitment.

Authors:  Hugues Beauchemin; Tarik Möröy
Journal:  Front Genet       Date:  2020-10-26       Impact factor: 4.599

7.  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

8.  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

  8 in total

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