Associated Papers
Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.
Ferrari S et al.
International Journal of Laboratory Hematology, 2026
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Human congenital cataract mutation in MYH9 alters F-actin organization and cell functions.
Yuan H et al.
International Journal of Ophthalmology, 2025
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 › HGMD
Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.
Casas-Mao D et al.
The Journal of Biological Chemistry, 2024
38042490 (PubMed )
Supplement: mmc1.docx
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
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
G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: comment on "A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.
Kunishima S et al.
European Journal of Medical Genetics, 2012
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A et al.
Plos One, 2012
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
A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect.
Vettore S et al.
European Journal of Medical Genetics, 0
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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