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
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
[Case Analysis of MYH9 Related Disease with Non-Hodgkin Lymphoma Caused by Rare Mutations].
Kong XT et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 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
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
A nationwide survey of MYH9-related disease in Japan.
Shirai Y et al.
Clinical and Experimental Nephrology, 2024
[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
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational 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
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
Cellular defects resulting from disease-related myosin II mutations in Drosophila.
Kasza KE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation.
Tanaka M et al.
Internal Medicine (tokyo, Japan), 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
Management of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation.
Hashimoto J et al.
Nephrology (carlton, Vic.), 2019
De novo MYH9 mutation in congenital scalp hemangioma.
Fomchenko EI et al.
Cold Spring Harbor Molecular Case Studies, 2018
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
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
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
Apparent homozygosity for p.E1841K mutation in a patient with MYH9-related disorder: a misdiagnosis for an autosomal dominant disorder?
Schlegel N et al.
European Journal of Haematology, 2012
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
Balduini CL et al.
British Journal of Haematology, 2011
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.
Sekine T et al.
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
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
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).
Pecci A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
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
An MYH9 human disease model in flies: site-directed mutagenesis of the Drosophila non-muscle myosin II results in hypomorphic alleles with dominant character.
Franke JD et al.
Human Molecular Genetics, 2007
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
Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C.
Kim KY et al.
The Journal of Biological Chemistry, 2005
Altered cytoskeleton organization in platelets from patients with MYH9-related disease.
Canobbio I et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.
Franke JD et al.
Blood, 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