Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.
Gök V et al.
Research and Practice in Thrombosis and Haemostasis, 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
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
Successful use of thrombopoietin analogs in thrombocytopenia associated with MYH-9 mutation.
Louzao M et al.
Annals of Hematology, 2023
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation.
Zhang W et al.
Hematology (amsterdam, Netherlands), 2020
Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.
Asensio-Juárez G et al.
Cells, 2020
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
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L et al.
Human Mutation, 2020
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.
Yokoi S et al.
Annals of Hematology, 2016
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J et al.
Clinical Genetics, 2016
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
Saposnik B et al.
Molecular Genetics & Genomic Medicine, 2014
Report of a young girl with MYH9 mutation and review of the literature.
Landi D et al.
Journal of Pediatric Hematology/oncology, 2012
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
Jang MJ et al.
Yonsei Medical Journal, 2012
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.
Kahr WH et al.
Thrombosis and Haemostasis, 2009
Identification of the first in cis mutations in MYH9 disorder.
Miyajima Y et al.
European Journal of Haematology, 2009
MYH9-related platelet disorders.
Althaus K et al.
Seminars in Thrombosis and Hemostasis, 2009
Description of a novel mutation leading to MYH9-related disease.
Burt RA et al.
Thrombosis Research, 2008
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
Selleng K et al.
European Journal of Haematology, 2007
Genotype-phenotype correlation in MYH9-related thrombocytopenia.
Dong F et al.
British Journal of Haematology, 2005
Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.
Kunishima S et al.
European Journal of Haematology, 2005
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Deutsch S et al.
Blood, 2003
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M et al.
Medicine, 2003
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function.
Hu A et al.
The Journal of Biological Chemistry, 2002
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