(Q45874943)

19 February 2018

title

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity (English)

1 reference

19 February 2018

0 references

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Alessio Branchini

4

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author name string

Irving Donadon

1

1 reference

19 February 2018

John H McVey

2

1 reference

19 February 2018

Isabella Garagiola

3

1 reference

19 February 2018

Mimosa Mortarino

5

1 reference

19 February 2018

Flora Peyvandi

6

1 reference

19 February 2018

Francesco Bernardi

7

1 reference

19 February 2018

Mirko Pinotti

8

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19 February 2018

publication date

23 November 2017

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19 February 2018

published in

Haematologica

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19 February 2018

volume

103

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19 February 2018

issue

2

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19 February 2018

page(s)

344-350

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19 February 2018

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

cites work

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A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect

24 May 2018

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Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides

24 May 2018

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Assay discrepancy in mild haemophilia A.

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24 May 2018

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Genetic sequence analysis of inherited bleeding diseases

29 September 2018

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Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity

24 May 2018

1 reference

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Pick one, but be quick: 5' splice sites and the problems of too many choices

24 May 2018

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Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency

24 May 2018

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The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

24 May 2018

1 reference

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U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

24 May 2018

1 reference

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The tertiary structure and domain organization of coagulation factor VIII

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence

24 May 2018

1 reference

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Thrombin-catalyzed activation of factor VIII with His substituted for Arg372 at the P1 site

24 May 2018

1 reference

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Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s).

24 May 2018

1 reference

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ESEfinder: A web resource to identify exonic splicing enhancers

24 May 2018

1 reference

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24 May 2018

Haemophilias A and B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

A new type of mutation causes a splicing defect in ATM.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

The life cycle of coagulation factor VIII in view of its structure and function

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Characterisation and quantification of F8 transcripts of ten putative splice site mutations.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Nomenclature of genetic variants in hemostasis.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Codon optimization of human factor VIII cDNAs leads to high-level expression

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Generation of stable, high-producing CHO cell lines by lentiviral vector-mediated gene transfer in serum-free suspension culture.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Haemophilia A mutations in the UK: results of screening one-third of the population.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5792279

Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29170251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29170251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3324/HAEMATOL.2017.178327

1 reference

19 February 2018

PMCID

5792279

1 reference

19 February 2018

PubMed ID

29170251

1 reference

19 February 2018