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
Identification of a GFI1B variant associated with abnormal platelet function and normal platelet count.
Kawankar N et al.
British Journal of Haematology, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.
Narta K et al.
Genes, 2023
Post-translational polymodification of β1-tubulin regulates motor protein localisation in platelet production and function.
Khan AO et al.
Haematologica, 2022
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Faleschini M et al.
Haematologica, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency.
Brøns N et al.
Platelets, 2021
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.
Cheng AN et al.
Pediatric Blood & Cancer, 2019
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.
van Oorschot R et al.
Haematologica, 2019
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B et al.
Research and Practice in Thrombosis and Haemostasis, 2018
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
Uchiyama Y et al.
British Journal of Haematology, 2018
Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.
Rabbolini DJ et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Transcription Factor GFI1B in Health and Disease.
Anguita E et al.
Frontiers in Oncology, 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
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015