Varaico: Literature-Extracted Genetic Variants

Gene:GFI1B
Variant:p.Q287*
Back to variants list

GFI1B

NM_001377304.1:p.Q287*

Associated Papers

Growth factor independent 1B is a metabolic regulator that exerts pleiotropic effects on platelet function.

Morel-Kopp MC et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.

Venhuizen J et al.

Communications Biology, 2024

Proteomic landscapes of inherited platelet disorders with different etiologies.

Kreft IC et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia.

Liu L et al.

Leukemia, 2022

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

Faleschini M et al.

Haematologica, 2022

Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.

van Bergen MGJM et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Clonal hematopoietic mutations linked to platelet traits and the risk of thrombosis or bleeding.

Veninga A et al.

Haematologica, 2020

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

van Oorschot R et al.

Haematologica, 2019

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

van Oorschot R et al.

Haematologica, 2019

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

Uchiyama Y et al.

British Journal of Haematology, 2018

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM et al.

Haematologica, 2018

28983057 (PubMed )
Supplement: 2017.171132.BASTIDA_SUPPL.pdf

Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B.

Hansen M et al.

Stem Cell Research, 2017

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

Schulze H et al.

Haematologica, 2017

GFI1B variants associated with thrombocytopenia.

Rabbolini DJ et al.

Platelets, 2017

Hematopoietic transcription factor mutations: important players in inherited platelet defects.

Songdej N et al.

Blood, 2017

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

Marneth AE et al.

Blood, 2017

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

Ferreira CR et al.

Molecular Genetics and Metabolism, 2017

Inherited platelet dysfunction and hematopoietic transcription factor mutations.

Songdej N et al.

Platelets, 2017

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?

Nurden AT et al.

American Journal of Hematology, 2016

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.

Kitamura K et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.

Möröy T et al.

Blood, 2015

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.

Favier R et al.

British Journal of Haematology, 2015

Hematopoietic transcription factor mutations and inherited platelet dysfunction.

Songdej N et al.

F1000prime Reports, 2015

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

Monteferrario D et al.

The New England Journal of Medicine, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."