Alan Nurden։ How Aberrant Splicing Disrupts Megakaryocyte Development in TAR Syndrome
Alan Nurden, Emeritus Research Director at CNRS, Co-Founder of the French National Reference Centre for Inherited Platelet Disorders (CRPP), shared a post on LinkedIn about a recent article by Catriana C. Nations et al, published in Blood Vessels, Thrombosis and Hemostasis, adding:
”This high quality manuscript recently published in Blood VTH by Catriana Nations and her colleagues from Boston and with contributions from a series of highly reputed national and international researchers uses an iPSC model to show how aberrant splicing results in impaired megakaryopoiesis in the TAR (thrombocytopenia-absent radius syndrome) essentially known for its skeletal malformations at birth.
The subject is complex and involves the correction of the aberrant function of the exon junction complex member (RBM8A) and of its core factor, Y14.
Genome-wide expression analysis revealed abnormal gene expression in apoptosis and cell cycle pathways and a gene selective precocious switch in splicing with an alternative first exon event.
The authors conclude that the low platelet number in TAR is due to lack of proliferation, premature maturation and early death of megakaryocytes and their progenitors.
Despite the complexity, the article is easy to read and I recommend it to all who work on platelets and their disorders.
Congratulations to contributors.
Highly recommended.”
Title: An iPSC model of thrombocytopenia-absent radius syndrome links aberrant splicing to impaired megakaryopoiesis
Authors: Catriana C. Nations, Jenea I. Adams, Nicole Debruyne, Xiuli Sim, Hyun Sook Ahn, C. J. Willett, James Warland, Cedric Ghevaert, Kathleen Freson, Giulia Pavani, Deborah L. French, Mortimer Poncz, Yi Xing, Lan Lin, Paul J. Gadue
Stay updated on all scientific advances with Hemostasis Today.
-
Nov 10, 2026, 13:10Masanori Aikawa: NEK7 Research Earns Top Honors at AHA 2026
-
Nov 10, 2026, 12:57Chokri Ben Lamine: The Hidden Risk of RBC Alloimmunization in SCD, Thalassemia and HSCT
-
Nov 10, 2026, 12:47Jamie Nash։ RBC-Derived EVs Show Greater Procoagulant Potential
-
Nov 10, 2026, 11:14Judith Catella: SVC Filters in Upper Extremity DVT Thrombectomy
-
Nov 10, 2026, 11:11Roberta Gualtierotti: Oral Signs of Systemic Immune-Mediated Diseases
-
Nov 10, 2026, 11:08Tim Brümmendorf: FlowFISH in New ASH Guidelines for Aplastic Anemia
-
Nov 10, 2026, 11:01Sophia Delicou: Bronze Award for Hippokration’s Hemoglobinopathy Centre
-
Nov 10, 2026, 10:16Building Future Leaders in Transfusion Medicine – TRAM Leadership Program
-
Nov 10, 2026, 10:04Paolo Zamboni: A New Generation of Vascular Surgeons Graduates