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
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Kidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in Japan.
Nakatani R et al.
Pediatric Nephrology (berlin, Germany), 2025
[Refractory immune thrombocytopenia revealing MYH9 related disease in a 64-year-old man].
Bodard Q et al.
La Revue De Medecine Interne, 2025
Unraveling MYH9-related disease: A case study on misdiagnosis with idiopathic thrombocytopenic purpura, confirmed through genetic.
Cai L et al.
Heliyon, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 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
"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
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: it does exist, may be more frequent than you think and requires specific therapy.
Fernandez-Prado R et al.
Clinical Kidney Journal, 2019
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
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
A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion bodies in a Chinese inherited macrothrombocytopenia pedigree.
Guo X et al.
Clinical Chemistry and Laboratory Medicine, 2018
Macrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease.
Ruhoy SM et al.
Laboratory Medicine, 2016
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 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
Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.
Necchi V et al.
Thrombosis and Haemostasis, 2013
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
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A et al.
Plos One, 2012
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.
Pecci A et al.
Thrombosis and Haemostasis, 2011
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
Balduini CL et al.
British Journal of Haematology, 2011
Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy.
Johnstone DB et al.
Molecular and Cellular Biology, 2011
A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis.
Ohtsuka Y et al.
Clinical Nephrology, 2011
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.
Sekine T et al.
Kidney International, 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
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
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.
Panza E et al.
Pathogenetics, 2008
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
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
Acute myeloid leukemia in a child with hereditary thrombocytopenia.
Rheingold SR
Pediatric Blood & Cancer, 2007
Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.
Marini M et al.
International Journal of Molecular Medicine, 2006