Associated Papers
MYH9 mutations differentially stabilize non-muscle myosin II filaments and induce distinct cellular aggregation phenotypes.
Llorente-González C et al.
Cellular and Molecular Life Sciences : Cmls, 2026
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
Research Advances in the Physiological and Pathological Function of MYH9 and NMIIA.
Tian Y et al.
International Journal of Immunogenetics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Natural history of the severe subtype of MYH9-related disease (Epstein syndrome).
Shinno K et al.
European Journal of Internal Medicine, 2025
Cisplatin-Induced APE2 Overexpression Disrupts MYH9 Function and Causes Hearing Loss.
Wang Q et al.
Cancer Research Communications, 2025
Molecular Control of Non-Muscle Myosin II-A Aggregation and Intracellular Dynamics by motor- or tail-specific MYH9 Mutations.
Llorente-González C et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.
Gök V et al.
Research and Practice in Thrombosis and Haemostasis, 2025
[Refractory immune thrombocytopenia revealing MYH9 related disease in a 64-year-old man].
Bodard Q et al.
La Revue De Medecine Interne, 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
MYH9-related disorder with sole presentation of end-stage kidney disease and long-term, recurrence-free living after living donor renal transplantation: a case report.
Horibe Y et al.
Cen Case Reports, 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
Human congenital cataract mutation in MYH9 alters F-actin organization and cell functions.
Yuan H et al.
International Journal of Ophthalmology, 2025
Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions.
Lian X et al.
Frontiers in Pediatrics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Macrothrombocytopenia and granulopoieitic Döhle body-like inclusions in a MYH9-related disorder.
Strasser B et al.
Journal of Hematopathology, 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
[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].
Gao GY et al.
Zhonghua Yi Xue Za Zhi, 2023
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
Nonmuscle Myosin IIA Regulates the Precise Alignment of Hexagonal Eye Lens Epithelial Cells During Fiber Cell Formation and Differentiation.
Islam ST et al.
Investigative Ophthalmology & Visual Science, 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
Defective VWF secretion due to expression of MYH9-RD E1841K mutant in endothelial cells disrupts hemostasis.
Cao Y et al.
Blood Advances, 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
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
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
[Gene analysis and clinical features of MYH9-related disease].
Luo XJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
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
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Natesirinilkul R et al.
Pediatric Blood & Cancer, 2021
Cisplatin-Mediated Upregulation of APE2 Binding to MYH9 Provokes Mitochondrial Fragmentation and Acute Kidney Injury.
Hu Y et al.
Cancer Research, 2021