Associated Papers
MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches.
Shen K et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39309229 (PubMed )
Supplement: mmc3.xlsx › ClinVar
Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
Yang EJ et al.
Journal of Pediatric Hematology/oncology, 2020
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
Saposnik B et al.
Molecular Genetics & Genomic Medicine, 2014
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A et al.
Human Mutation, 2014
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A et al.
Plos One, 2012
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.
Pecci A et al.
Thrombosis and Haemostasis, 2011
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Savoia A et al.
Thrombosis and Haemostasis, 2010
Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders.
Kunishima S et al.
Blood, 2008
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Pecci A et al.
Human Mutation, 2008
Description of a novel mutation leading to MYH9-related disease.
Burt RA et al.
Thrombosis Research, 2008
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
Pecci A et al.
Human Molecular Genetics, 2005
First description of somatic mosaicism in MYH9 disorders.
Kunishima S et al.
British Journal of Haematology, 2005
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.
Franke JD et al.
Blood, 2005
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Verver EJ et al.
Ear and Hearing, 0
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