Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T et al.
Clinical Genetics, 2025
Kidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in Japan.
Nakatani R et al.
Pediatric Nephrology (berlin, Germany), 2025
Natural history of the severe subtype of MYH9-related disease (Epstein syndrome).
Shinno K et al.
European Journal of Internal Medicine, 2025
Thrombocytopenia, renal failure and hearing loss in a young patient: MYH9-related disorder.
Nukala S et al.
Bmj Case Reports, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Non-Muscle Myosin II A: Friend or Foe in Cancer?
Feroz W et al.
International Journal of Molecular Sciences, 2024
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
[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].
Gao GY et al.
Zhonghua Yi Xue Za Zhi, 2023
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Familial kidney failure with macro-thrombocytopenia: Answers.
Sethi SK et al.
Pediatric Nephrology (berlin, Germany), 2022
Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A et al.
Auris, Nasus, Larynx, 2022
Immunoglobulin A nephropathy in a patient with an MYH9 -related disorder.
Shimizu S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia.
Li K et al.
Journal of Pediatric Hematology/oncology, 2021
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-related disorders display heterogeneous kidney involvement and outcome.
Tabibzadeh N et al.
Clinical Kidney Journal, 2019
MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane.
Smith AS et al.
American Journal of Hematology, 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
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
A case of MYH9 disorders caused by a novel mutation (p.K74E).
Kanematsu T et al.
Annals of Hematology, 2016
Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure.
Makino S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
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
[Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation].
Böttcher A et al.
Hno, 2013
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
De Rocco D et al.
European Journal of Medical Genetics, 2013
Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.
Sun XH et al.
Acta Haematologica, 2013
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.
Glembotsky AC et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
[Clinical features and gene analyses of six patients with MYH9-related disease].
Sun XH et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 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
Myosin light-chain kinase is necessary for membrane homeostasis in cochlear inner hair cells.
Zhu GJ et al.
Plos One, 2012
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A et al.
Plos One, 2012
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
Balduini CL et al.
British Journal of Haematology, 2011
Advances in the understanding of MYH9 disorders.
Kunishima S et al.
Current Opinion in Hematology, 2010
Glomerular pathology in autosomal dominant MYH9 spectrum disorders: what are the clues telling us about disease mechanism?
Kopp JB
Kidney International, 2010
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
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.
Kunishima S et al.
Genetic Testing and Molecular Biomarkers, 2009
Clinical manifestation and molecular genetic characterization of MYH9 disorders.
Provaznikova D et al.
Platelets, 2009
MYH9-related platelet disorders.
Althaus K et al.
Seminars in Thrombosis and Hemostasis, 2009
Epstein syndrome presenting as renal failure in young patients.
Yap DY et al.
Renal Failure, 2009
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
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
Selleng K et al.
European Journal of Haematology, 2007
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.
Kunishima S et al.
European Journal of Haematology, 2007
Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly.
Otsubo K et al.
Pediatric Blood & Cancer, 2006