Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

MH Chen, LM Raffield, A Mousas, S Sakaue… - Cell, 2020 - cell.com
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …

Megakaryopoiesis and platelet biology: roles of transcription factors and emerging clinical implications

JY Noh - International Journal of Molecular Sciences, 2021 - mdpi.com
Platelets play a critical role in hemostasis and thrombus formation. Platelets are small,
anucleate, and short-lived blood cells that are produced by the large, polyploid, and …

Multifaceted actions of GFI1 and GFI1B in hematopoietic stem cell self-renewal and lineage commitment

H Beauchemin, T Möröy - Frontiers in Genetics, 2020 - frontiersin.org
Growth factor independence 1 (GFI1) and the closely related protein GFI1B are small
nuclear proteins that act as DNA binding transcriptional repressors. Both recognize the …

Molecular diagnosis of inherited coagulation and bleeding disorders

JM Bastida, R Benito, ML Lozano… - … in thrombosis and …, 2019 - thieme-connect.com
Diagnosis of inherited bleeding disorders (IBDs) remains challenging, especially in the case
of inherited platelet disorders, due to the heterogeneity of the clinical and laboratory …

[HTML][HTML] Proteomic landscapes of inherited platelet disorders with different etiologies

IC Kreft, EJ Huisman, MH Cnossen… - Journal of Thrombosis …, 2023 - Elsevier
Abstract Background Inherited platelet disorders (IPDs) are a heterogeneous group of rare
diseases that are caused by the defects in early megakaryopoiesis, proplatelet formation …

A review of the role of zinc finger proteins on hematopoiesis

F da Silva Lima, CE da Silva Gonçalves… - Journal of Trace Elements …, 2023 - Elsevier
The bone marrow is responsible for producing an incredible number of cells daily in order to
maintain blood homeostasis through a process called hematopoiesis. Hematopoiesis is a …

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

I Almazni, RJ Stapley, AO Khan, NV Morgan - Human Mutation, 2020 - Wiley Online Library
Inherited bleeding disorders (IBDs) comprise an extremely heterogeneous group of
diseases that reflect abnormalities of blood vessels, coagulation proteins, and platelets …

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

R van Oorschot, M Hansen, JM Koornneef… - …, 2019 - ncbi.nlm.nih.gov
Dominant-negative mutations in the transcription factor Growth Factor Independence-1B
(GFI1B), such as GFI1B Q287*, cause a bleeding disorder characterized by a plethora of …

GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation

J Venhuizen, MGJM van Bergen, SM Bergevoet… - Communications …, 2024 - nature.com
Abstract The transcription factor Growth Factor Independence 1B (GFI1B) recruits Lysine
Specific Demethylase 1 A (LSD1/KDM1A) to stimulate gene programs relevant for …

[HTML][HTML] A comprehensive targeted next‐generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

B Johnson, R Doak, D Allsup, E Astwood… - Research and Practice …, 2018 - Elsevier
Abstract Background Inherited thrombocytopenias (ITs) are a heterogeneous group of
disorders characterized by low platelet counts and often disproportionate bleeding with over …