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
Corrigendum to "Natural history of the severe subtype of MYH9-related disease (Epstein syndrome)" [European Journal of Internal Medicine 138 (2025) 6354].
Shinno K et al.
European Journal of Internal Medicine, 2026
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Research Advances in the Physiological and Pathological Function of MYH9 and NMIIA.
Tian Y et al.
International Journal of Immunogenetics, 2025
Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease.
Cai R et al.
Hematology (amsterdam, Netherlands), 2025
Successful kidney transplantation using eltrombopag in a patient with MYH9-related disease.
Kato A et al.
Cen Case Reports, 2025
Re-evaluating the MYH9 p.I1816V variant in a patient with atypical clinical presentation.
Konomoto T et al.
Pediatric Nephrology (berlin, Germany), 2025
Structure of the human nonmuscle myosin 2A motor domain: Insights into isoform-specific mechanochemistry.
Heiringhoff RS et al.
The Journal of Biological Chemistry, 2025
Natural history of the severe subtype of MYH9-related disease (Epstein syndrome).
Shinno K et al.
European Journal of Internal Medicine, 2025
MYH9-related disease with a normal platelet count.
Nakatani R et al.
Cen Case Reports, 2025
Heterozygous MYH9 Mutations in 2 Children With Cochlear Nerve Canal Stenosis.
Liang W et al.
Ear, Nose, & Throat Journal, 2025
Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
Arif AR et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
myh9b is a critical non-muscle myosin II encoding gene that interacts with myh9a and myh10 during zebrafish development in both compensatory and redundant pathways.
Rolfs LA et al.
G3 (bethesda, Md.), 2025
Disease-related non-muscle myosin IIA D1424N rod domain mutation, but not R702C motor domain mutation, disrupts mouse ocular lens fiber cell alignment and hexagonal packing.
Islam ST et al.
Cytoskeleton (hoboken, N.j.), 2024
Unraveling MYH9-related disease: A case study on misdiagnosis with idiopathic thrombocytopenic purpura, confirmed through genetic.
Cai L et al.
Heliyon, 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
Diagnostic delay of MYH9-related disorder in Japan.
Sakamoto A et al.
British Journal of Haematology, 2024
A nationwide survey of MYH9-related disease in Japan.
Shirai Y et al.
Clinical and Experimental Nephrology, 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
Case Report: MYH9-related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia.
Niwa K et al.
Frontiers in Pediatrics, 2024
Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease.
Nakamura M et al.
Cen Case Reports, 2023
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Plos Genetics, 2023
Successful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist.
Li X et al.
Journal of Nephrology, 2023
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Proteomic landscapes of inherited platelet disorders with different etiologies.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Banushi B et al.
Cells, 2022
A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.
Safiullina SI et al.
Scientific Reports, 2022
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
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.
Lewis MA et al.
Bmc Biology, 2022
Myh9 Plays an Essential Role in the Survival and Maintenance of Hematopoietic Stem/Progenitor Cells.
An Q et al.
Cells, 2022
Reduced platelet forces underlie impaired hemostasis in mouse models of MYH9-related disease.
Baumann J et al.
Science Advances, 2022
Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A et al.
Auris, Nasus, Larynx, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Ex vivo anticoagulants affect human blood platelet biomechanics with implications for high-throughput functional mechanophenotyping.
Sachs L et al.
Communications Biology, 2022
[Gene analysis and clinical features of MYH9-related disease].
Luo XJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Natesirinilkul R et al.
Pediatric Blood & Cancer, 2021
Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias.
Bury L et al.
Journal of Clinical Medicine, 2021
Cisplatin-Mediated Upregulation of APE2 Binding to MYH9 Provokes Mitochondrial Fragmentation and Acute Kidney Injury.
Hu Y et al.
Cancer Research, 2021
Mutations in non-muscle myosin 2A disrupt the actomyosin cytoskeleton in Sertoli cells and cause male infertility.
Sung DC et al.
Developmental Biology, 2021
Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice.
Kanematsu T et al.
Nagoya Journal of Medical Science, 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
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
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
The use of pan-retinal photocoagulation to treat recurrent vitreous haemorrhage with neovascularisation in the context of Epstein syndrome: an MYH9-related disorder.
Sanders FWB et al.
Bmj Case Reports, 2019