Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease (Q33377670)

26 July 2017

title

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

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26 July 2017

Valeria Bozzi

6

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Emanuele Panza

Emanuele Panza

2

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Alessandro Pecci

Alessandro Pecci

1

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Anna Savoia

Anna Savoia

26

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Paolo Gresele

Paolo Gresele

7

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Marco Seri

Marco Seri

24

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Catherine Klersy

Catherine Klersy

4

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Pasi A. Koivisto

14

Pasi A Koivisto

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26 July 2017

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Bianca Rocca

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5

Filomena Di Bari

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25

Carlo L Balduini

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Patrizia Noris

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13

Carmine Pecoraro

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16

Achille Iolascon

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3

Núria Pujol-Moix

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15

Paula G Heller

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Stefan Lethagen

8

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Fabrizio Fabris

9

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Carlo Dufour

10

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Antonio Granata

11

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Michael Doubek

12

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Patrizia Alvisi

17

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Dirk Schwabe

18

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Erica De Candia

19

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Umberto Russo

21

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Ugo Ramenghi

22

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language of work or name

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1 March 2008

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26 July 2017

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volume

29

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issue

3

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26 July 2017

page(s)

409-417

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Conditional expression of a truncated fragment of nonmuscle myosin II-A alters cell shape but not cytokinesis in HeLa cells

26 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

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/10.1002%2FHUMU.20661

7 January 2021

Genotype-phenotype correlation in MYH9-related thrombocytopenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Hereditary macrothrombocytopathia, nephritis and deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Three conformational states of scallop myosin S1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

A single class II myosin modulates T cell motility and stopping, but not synapse formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Inherited giant platelet disorders. Classification and literature review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Towards a molecular understanding of cytokinesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Fechtner syndrome: report of a third family and literature review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Myosins: a diverse superfamily

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20661

7 January 2021

Identifiers

DOI

10.1002/HUMU.20661

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26 July 2017

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