(Q33411280)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Catherine Klersy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Paolo Gresele

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Daniela De Rocco

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Valeria Bozzi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Giovanna Russo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Patrizia Noris

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Erica De Candia

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Fabrizio Vianello

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elena Nicchia

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Marco Seri

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Anna Savoia

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Kieran J D Lee

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Paula G Heller

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Giuseppe Loffredo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Matthias Ballmaier

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Fabrizio Fabris

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Eloise Beggiato

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Walter H A Kahr

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Nuria Pujol-Moix

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Helen Platokouki

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Christel Van Geet

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Preethi Yerram

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Cedric Hermans

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Bernhard Gerber

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Marina Economou

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Marco De Groot

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Barbara Zieger

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Vincenzo Fraticelli

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Rogier Kersseboom

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Giorgina B Piccoli

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Stefanie Zimmermann

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Tiziana Fierro

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ana C Glembotsky

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Carlo Zaninetti

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Christiane Güthner

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Carlo Baronci

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Peter J Knight

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Carlo L Balduini

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

12 December 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

29 February 2020

http://eprints.whiterose.ac.uk/137935

content deliverer

White Rose Research Online

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

236-247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

MYH9-related platelet disorders

29 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

X-ray structures of the apo and MgATP-bound states of Dictyostelium discoideum myosin motor domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

The mechanism of the converter domain rotation in the recovery stroke of myosin motor protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Structures of smooth muscle myosin and heavy meromyosin in the folded, shutdown state.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Genotype-phenotype correlation in MYH9-related thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Myosin II isoforms in smooth muscle: heterogeneity and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Renal manifestations of patients with MYH9-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Head-head and head-tail interaction: a general mechanism for switching off myosin II activity in cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Advances in the understanding of MYH9 disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

A new equation to estimate glomerular filtration rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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/10.1002%2FHUMU.22476

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/10.1002%2FHUMU.22476

Myosin subfragment 1 structures reveal a partially bound nucleotide and a complex salt bridge that helps couple nucleotide and actin binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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/10.1002%2FHUMU.22476

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/10.1002%2FHUMU.22476

Myosins: a diverse superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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/10.1002%2FHUMU.22476

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Structural and functional insights into the Myosin motor mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

Non-muscle myosin II takes centre stage in cell adhesion and migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22476

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

21 January 2018

1 reference

12 December 2020

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes

1 reference

12 December 2020

Crystal structure of scallop Myosin s1 in the pre-power stroke state to 2.6 a resolution: flexibility and function in the head

1 reference

12 December 2020

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22476

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

24186861

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24186861%20AND%20SRC:MED&resulttype=core&format=json