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BRITISH JOURNAL OF HAEMATOLOGY (2011)
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease
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Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
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THROMBOSIS AND HAEMOSTASIS (2010)
Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene
Daniela De Rocco et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
MYH9-Related Platelet Disorders
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Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders
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BLOOD (2008)
Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders
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EUROPEAN JOURNAL OF HAEMATOLOGY (2008)
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
Alessandro Pecci et al.
HUMAN MUTATION (2008)
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome)
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NEPHROLOGY DIALYSIS TRANSPLANTATION (2008)
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations
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Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations
A Pecci et al.
HUMAN MOLECULAR GENETICS (2005)
Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice
MA Conti et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)
GM Ghiggeri et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2003)
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations
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LABORATORY INVESTIGATION (2003)
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
KE Heath et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
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BLOOD (2001)
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
S Kunishima et al.
JOURNAL OF HUMAN GENETICS (2001)
Conditional expression of a truncated fragment of nonmuscle myosin II-A alters cell shape but not cytokinesis in HeLa cells
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MOLECULAR BIOLOGY OF THE CELL (2000)
Myosins: a diverse superfamily
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Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
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