(Q40278893)

19 September 2017

Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII. (English)

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19 September 2017

3

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19 September 2017

P Charoenkwan

6

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Mirko Pinotti

object named as

M Pinotti

1

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author name string

L Rizzotto

2

1 reference

19 September 2017

P Ferraresi

4

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19 September 2017

A Chuansumrit

5

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19 September 2017

G Marchetti

7

1 reference

19 September 2017

R Rizzuto

8

1 reference

19 September 2017

G Mariani

9

1 reference

19 September 2017

F Bernardi

10

1 reference

19 September 2017

International Factor VII Deficiency Study Group

11

1 reference

19 September 2017

1 June 2006

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Journal of Thrombosis and Haemostasis

19 September 2017

1 reference

19 September 2017

4

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19 September 2017

6

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19 September 2017

1308-1314

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450 million years of hemostasis.

19 September 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Factor VII deficiency and the FVII mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Mice lacking factor VII develop normally but suffer fatal perinatal bleeding

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Aminoglycoside suppression of nonsense mutations in severe hemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Recombinant aequorin and green fluorescent protein as valuable tools in the study of cell signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Novel hemophilia B mouse models exhibiting a range of mutations in the Factor IX gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Structure of human factor VIIa and its implications for the triggering of blood coagulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Identification of surface residues mediating tissue factor binding and catalytic function of the serine protease factor VIIa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Gene transfer as an approach to treating hemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

Four loops of the catalytic domain of factor viia mediate the effect of the first EGF-like domain substitution on factor viia catalytic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01915.X

10.1111/J.1538-7836.2006.01915.X

21 January 2018

Identifiers

DOI

1 reference

19 September 2017

1 reference