Associated Papers
Quantitative and structural changes of blood platelet cytoskeleton proteins in multiple sclerosis (MS).
Dziedzic A et al.
Journal of Autoimmunity, 2024
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Shah YB et al.
British Journal of Haematology, 2023
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Palma-Barqueros V et al.
Blood Advances, 2021
Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.
Hou Y et al.
Platelets, 2021
Identification of novel TUBB1 variants in patients with macrothrombocytopenia.
Çalışkaner ZO et al.
Turkish Journal of Medical Sciences, 2021
TUBB1 dysfunction in inherited thrombocytopenia causes genome instability.
Matsumura T et al.
British Journal of Haematology, 2019
A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.
Fiore M et al.
Clinical Genetics, 2017
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.
Kunishima S et al.
European Journal of Haematology, 2014
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