Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism.
Wang F et al.
Endokrynologia Polska, 2025
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.
Sato D et al.
Pediatric Hematology and Oncology, 2024
Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome.
Luo F et al.
Global Medical Genetics, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
The tubulin code in platelet biogenesis.
Kimmerlin Q et al.
Seminars in Cell & Developmental Biology, 2023
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Shah YB et al.
British Journal of Haematology, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Identification of novel TUBB1 variants in patients with macrothrombocytopenia.
Çalışkaner ZO et al.
Turkish Journal of Medical Sciences, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].
Sun CH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
TUBB1 dysfunction in inherited thrombocytopenia causes genome instability.
Matsumura T et al.
British Journal of Haematology, 2019
Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.
Wang Q et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth.
Watanabe N et al.
Biochemical and Biophysical Research Communications, 2018
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
Lessons in platelet production from inherited thrombocytopenias.
Pecci A et al.
British Journal of Haematology, 2014
Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.
Pecci A
International Journal of Hematology, 2013
The beta 1 tubulin R307H single nucleotide polymorphism is associated with treatment failures in immune thrombocytopenia (ITP).
Basciano PA et al.
British Journal of Haematology, 2013
Genetics of familial forms of thrombocytopenia.
Balduini CL et al.
Human Genetics, 2012
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.
Kunishima S et al.
Blood, 2009
Structural impact of pathogenic SNPs on β-tubulin using molecular dynamics study.
Mansoor Hussain UH et al.
Journal of Biomolecular Structure & Dynamics, 0