Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
A circle of life: platelet and megakaryocyte cytoskeleton dynamics in health and disease.
Liu H et al.
Open Biology, 2024
Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome.
Luo F et al.
Global Medical Genetics, 2024
Quantitative and structural changes of blood platelet cytoskeleton proteins in multiple sclerosis (MS).
Dziedzic A et al.
Journal of Autoimmunity, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
The tubulin code in platelet biogenesis.
Kimmerlin Q et al.
Seminars in Cell & Developmental Biology, 2023
ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.
Seidel P et al.
Jci Insight, 2022
Highlighting novel genes associated with the classical Rett syndrome patient from India.
Mohan G et al.
Genes & Diseases, 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
Identification of novel TUBB1 variants in patients with macrothrombocytopenia.
Çalışkaner ZO et al.
Turkish Journal of Medical Sciences, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
The influence of single-nucleotide polymorphisms on overall survival and toxicity in cabazitaxel-treated patients with metastatic castration-resistant prostate cancer.
Belderbos BPS et al.
Cancer Chemotherapy and Pharmacology, 2020
Genetic risk of Spontaneous intracerebral hemorrhage: Systematic review and future directions.
Wahab KW et al.
Journal of the Neurological Sciences, 2019
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.
Guillet B et al.
Journal of Thrombosis and Haemostasis : Jth, 2019
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
Andres O et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2018
Down Regulation of the Munc18b-syntaxin-11 Complex and β1-tubulin Impairs Secretion and Spreading in Neonatal Platelets.
Caparrós-Pérez E et al.
Thrombosis and Haemostasis, 2017
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
Ali S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Pharmacogenetic analysis of advanced non-small-cell lung cancer patients treated with first-line paclitaxel and carboplatin chemotherapy.
Park HS et al.
Pharmacogenetics and Genomics, 2016
Genetic risk factors for spontaneous intracerebral haemorrhage.
Carpenter AM et al.
Nature Reviews. Neurology, 2016
A novel point mutation in the β1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers.
Gelain ME et al.
Veterinary Clinical Pathology, 2014
Lessons in platelet production from inherited thrombocytopenias.
Pecci A et al.
British Journal of Haematology, 2014
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
Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.
Leandro-García LJ et al.
Cancer Research, 2012
TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.
Krug T et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2012
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
Noris P et al.
Haematologica, 2012
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Nurden P et al.
Blood, 2011
Rare homozygous status of P43 β1-tubulin polymorphism causes alterations in platelet ultrastructure.
Navarro-Núñez L et al.
Thrombosis and Haemostasis, 2011
Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding.
Israels SJ et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause.
Martínez C et al.
British Journal of Haematology, 2009
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.
Kunishima S et al.
Blood, 2009
Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems.
Bauer TR et al.
Ilar Journal, 2009
TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction.
Navarro-Núñez L et al.
Thrombosis and Haemostasis, 2008
JAK2 V617F, hemostatic polymorphisms, and clinical features as risk factors for arterial thrombotic events in essential thrombocythemia.
Moreno MJ et al.
Annals of Hematology, 2008
Identification of variation in the platelet transcriptome associated with glycoprotein 6 haplotype.
Burns P et al.
Platelets, 2008
The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men.
Navarro-Núñez L et al.
Haematologica, 2007
The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.
Freson K et al.
Blood, 2005
Structural impact of pathogenic SNPs on β-tubulin using molecular dynamics study.
Mansoor Hussain UH et al.
Journal of Biomolecular Structure & Dynamics, 0