Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias (Q33395195)

26 July 2017

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title

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

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26 July 2017

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Alessandro Pecci

2

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Anna Savoia

object named as

Anna Savoia

series ordinal

3

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author name string

Carlo L Balduini

series ordinal

1

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26 July 2017

language of work or name

English

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publication date

4 May 2011

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British Journal of Haematology

26 July 2017

published in

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26 July 2017

volume

154

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26 July 2017

issue

2

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26 July 2017

page(s)

161-174

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Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants

26 July 2017

cites work

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Replacement of nonmuscle myosin II-B with II-A rescues brain but not cardiac defects in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Altered cytoskeleton organization in platelets from patients with MYH9-related disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

TRPM7 regulates myosin IIA filament stability and protein localization by heavy chain phosphorylation

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Safety of the thrombopoiesis-stimulating agents for the treatment of immune thrombocytopenia

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Genotype-phenotype correlation in MYH9-related thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Hereditary macrothrombocytopathia, nephritis and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

May-Hegglin anomaly: a defect in megakaryocyte fragmentation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Functional compensation of the low platelet count by increased individual platelet size in a patient with May-Hegglin anomaly presenting with acute myocardial infarction

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Renal manifestations of patients with MYH9-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Cochlear implants for DFNA17 deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

First description of somatic mosaicism in MYH9 disorders

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Megakaryocyte-restricted MYH9 inactivation dramatically affects hemostasis while preserving platelet aggregation and secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Coronary Thrombosis in a Patient with May-Hegglin Anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Cloning and developmental expression of nonmuscle myosin IIA (Myh9) in the mammalian inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Expression of Myh9 in the mammalian cochlea: localization within the stereocilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Human platelet myosin. II. In vitro assembly and structure of myosin filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Fechtner syndrome: report of a third family and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Myosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Myosins: a diverse superfamily

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Testing for chronic kidney disease: a position statement from the National Kidney Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2011.08716.X

10.1111/J.1365-2141.2011.08716.X

21 January 2018

Identifiers

DOI

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26 July 2017

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