Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency (Q38912944)

7 September 2017

Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency (English)

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7 September 2017

3

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7 September 2017

Mirko Pinotti

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Rosario Rizzuto

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Rosario Rizzuto

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4

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author name string

Lara Rizzotto

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1

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7 September 2017

Francesco Bernardi

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5

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7 September 2017

language of work or name

English

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publication date

1 July 2006

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7 September 2017

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7 September 2017

12

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7 September 2017

7-8

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7 September 2017

137-142

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https://scigraph.springernature.com/pub.10.2119/2005-00040.rizzotto

7 September 2017

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cites work

Recessively inherited coagulation disorders.

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The dynamics of thrombin formation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626593

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

9 September 2017

1 reference

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The hemophilias--from royal genes to gene therapy

9 September 2017

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

9 September 2017

1 reference

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Factor VII deficiency and the FVII mutation database

9 September 2017

1 reference

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Predicting subcellular localization of proteins based on their N-terminal amino acid sequence

9 September 2017

1 reference

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The molecular structure of green fluorescent protein

9 September 2017

1 reference

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Haemophilia B: database of point mutations and short additions and deletions--eighth edition

9 September 2017

1 reference

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The tissue factor pathway: how it has become a "prima ballerina"

9 September 2017

1 reference

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Signal sequences. The limits of variation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626593

9 September 2017

1 reference

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The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626593

Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626593

Factor X Shanghai and disruption of translocation to the endoplasmic reticulum

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626593

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools

17 June 2018

1 reference

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A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates.

22 August 2018

1 reference

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Comparative modeling methods: application to the family of the mammalian serine proteases

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626593

22 August 2018

1 reference

https://api.crossref.org/works/10.2119%2F2005-00040.RIZZOTTO

Molecular analysis of the genotype-phenotype relationship in factor X deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2119%2F2005-00040.RIZZOTTO

Clinical phenotypes and factor VII genotype in congenital factor VII deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2119%2F2005-00040.RIZZOTTO

Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.2119%2F2005-00040.RIZZOTTO

Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2119%2F2005-00040.RIZZOTTO

Twenty two novel mutations of the factor VII gene in factor VII deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2119%2F2005-00040.RIZZOTTO

Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII

21 January 2018

1 reference

12 December 2020

Impaired cotranslational processing as a mechanism for type I antithrombin deficiency

1 reference

12 December 2020

Post-translational modifications required for coagulation factor secretion and function

1 reference

12 December 2020

Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum

1 reference

12 December 2020

Inherited factor VII deficiency: molecular genetics and pathophysiology

1 reference

12 December 2020

Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins

1 reference

12 December 2020

The carboxyl-terminal region of protein C is essential for its secretion

1 reference

12 December 2020

10.2119/2005-00040.RIZZOTTO

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Dimensions Publication ID

7 September 2017

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7 September 2017

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