Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Research Advances in the Physiological and Pathological Function of MYH9 and NMIIA.
Tian Y et al.
International Journal of Immunogenetics, 2025
Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort.
Obrisca R et al.
Children (basel, Switzerland), 2025
Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.
Kaçar D et al.
Diagnostics (basel, Switzerland), 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
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
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
[Non-muscle myosin heavy chain 9 gene-related disorders with thrombocytopenia: report of two pedigrees and literature review].
Mao ST et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 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
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 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
[Clinical and genetic features of seven children with MYH9-related disease].
Hu Y 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
Mutations in non-muscle myosin 2A disrupt the actomyosin cytoskeleton in Sertoli cells and cause male infertility.
Sung DC et al.
Developmental Biology, 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
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020