Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

Renal manifestations of patients with MYH9-related disorders

(2011) Kyoung Hee Han et al.   PEDIATRIC NEPHROLOGY

MYH9-related disease: Report on five German families and description of a novel mutation

(2010) Anna Savoia et al.   ANNALS OF HEMATOLOGY

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

(2010) A. Pecci et al.   BLOOD

Patients with Epstein–Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease

(2010) Takashi Sekine et al.   KIDNEY INTERNATIONAL

Platelet Formation

(2010) Jonathan N. Thon et al.   SEMINARS IN HEMATOLOGY

Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

(2010) Daniela De Rocco et al.   THROMBOSIS AND HAEMOSTASIS

Germinal mosaicism inMYH9disorders: a family with two affected siblings of normal parents

(2009) Shinji Kunishima et al.   BRITISH JOURNAL OF HAEMATOLOGY

The risk of spinal haematoma following neuraxial anaesthesia or lumbar puncture in thrombocytopenic individuals

(2009) Joost J. Van Veen et al.   BRITISH JOURNAL OF HAEMATOLOGY

Identification of three in-frame deletion mutations inMYH9disorders suggesting an important hot spot for small rearrangements inMYH9exon 24

(2009) Koji Miyazaki et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

(2009) Alessandro Pecci et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene

(2009) Daniela De Rocco et al.   European Journal of Medical Genetics

Myosin IIA Associates with NK Cell Lytic Granules to Enable Their Interaction with F-Actin and Function at the Immunological Synapse

(2009) K. B. Sanborn et al.   JOURNAL OF IMMUNOLOGY

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia

(2009) P. NORIS et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET)

(2009) A. Tosetto et al.   THROMBOSIS RESEARCH

Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation

(2008) A. Eckly et al.   BLOOD

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders

(2008) S. Kunishima et al.   BLOOD

Localization in stereocilia, plasma membrane, and mitochondria suggests diverse roles for NMHC-IIa within cochlear hair cells

(2008) Anil K. Lalwani et al.   BRAIN RESEARCH

Accumulation ofMYH9mRNA at leukocyte inclusion bodies inMYH9disorders

(2008) Shinji Kunishima et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

TRPM7 Regulates Myosin IIA Filament Stability and Protein Localization by Heavy Chain Phosphorylation

(2008) Kristopher Clark et al.   JOURNAL OF MOLECULAR BIOLOGY

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome)

(2008) A. Pecci et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease

(2007) Alessandro Pecci et al.   HUMAN MUTATION