Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function (Q24306891)

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

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scholarly article

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

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author name string

Aihua Hu

1

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Fei Wang

2

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James R Sellers

3

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language of work or name

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publication date

29 November 2002

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Journal of Biological Chemistry

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277

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48

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46512-7

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Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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A millennial myosin census

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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Chicken nonmuscle myosin heavy chains: differential expression of two mRNAs and evidence for two different polypeptides

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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Inherited giant platelet disorders. Classification and literature review

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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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/10.1074%2FJBC.M208506200

21 January 2018

Baculovirus expression of chicken nonmuscle heavy meromyosin II-B. Characterization of alternatively spliced isoforms

1 reference

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Conformational transition accompanying the binding of calcium(2+) ion to the protein activator of 3',5'-cyclic adenosine monophosphate phosphodiesterase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

21 January 2018

In vitro actin filament sliding velocities produced by mixtures of different types of myosin

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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Myosins: a diverse superfamily

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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The cytoskeleton of the resting human blood platelet: structure of the membrane skeleton and its attachment to actin filaments

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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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/10.1074%2FJBC.M208506200

21 January 2018

Kinetic characterization of myosin head fragments with long-lived myosin.ATP states

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state

1 reference

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Three conformational states of scallop myosin S1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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Is SH1-SH2-cross-linked myosin subfragment 1 a structural analog of the weakly-bound state of myosin?

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

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Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208506200

21 January 2018

Identifiers

10.1074/JBC.M208506200

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