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

author

Sarah K. Westbury

Wendy Erber

1957 -

Ernest Turro

Kathleen Freson

Willem H. Ouwehand

1953 -

published in: Haematologica

date of publication: 2018-12-20

Cites articles 16

Date

Title

Authors

2019-01-17

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

Michiel Vermeulen
2017-01-17

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

Anna E Marneth, Waander L van Heerde, Bert A van der Reijden
2017-04-25

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

Yuri Uchiyama
2017-05-26

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

Markus G. Seidel, Eva Klopocki, Andreas Greinacher
2017-10-13

Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger

Marie-Christine Morel-Kopp, Ashley P Ng
2016-04-28

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia

Kenichi Yoshida, Yusuke Okuno
2016-12-18

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

David R Adams
2015-03-05

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

Heidi L. Rehm, Julie Gastier-Foster
2015-04-09

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

Peter Robinson, Stuart Meacham, Sol Schulman, Sarah K. Westbury, Augusto Rendon, Ernest Turro, Kathleen Freson, Willem H. Ouwehand, Wendy Erber, Sylvia Richardson
2014-09-01

Transcriptional diversity during lineage commitment of human blood progenitors

Laura Clarke, Paul Flicek, Nick Goldman, Randy Read, Nicole Soranzo, Asif Tamuri, Myrto Kostadima, Sara P Garcia, Ana Cvejic, Augusto Rendon, Iain C Macaulay, Sarah K. Westbury, Willem H. Ouwehand, Paul Bertone, Sylvia Richardson, Stuart Meacham, Emilio Palumbo, Remco Loos, David Richardson, Ernest Turro, Kathleen Freson, Wendy Erber, Tiphaine Martin, Roderic Guigó i Serra, Lu Chen, Hendrik Gerard Stunnenberg, Jaspal Kooner, Johan W.M. Heemskerk, Samantha Farrow, Kate Downes, Mattia Frontini, Antony P. Attwood, Fizzah A Choudry, Joost H A Martens, Alessandra Breschi, Martijn A van der Ent, Nicola Foad, Hindrik H D Kerstens
2013-11-01

GFI1B mutation causes a bleeding disorder with abnormal platelet function

Marie-Christine Morel-Kopp, Ashley P Ng, Andrew W. Roberts
2013-12-10

A dominant-negative GFI1B mutation in the gray platelet syndrome

Anthonie L Duijnhouwer, Cyrus Khandanpour, Bart L Loeys, Guy Van Camp
2009-09-22

GFI1B controls its own expression binding to multiple sites
2007-08-17

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

Heather M. Rooke
2005

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

Tarik Möröy
2005-09-21

GATA-1 mediates auto-regulation of Gfi-1B transcription in K562 cells

Article - wd:Q90680098

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