(Q36148386)

12 August 2017

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title

Haemophilia A: from mutation analysis to new therapies (English)

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12 August 2017

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Reinhard Schneppenheim

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object named as

Reinhard Schneppenheim

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author name string

Jochen Graw

1

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12 August 2017

Hans-Hermann Brackmann

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12 August 2017

Johannes Oldenburg

3

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12 August 2017

Michael Spannagl

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12 August 2017

Rainer Schwaab

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12 August 2017

publication date

1 June 2005

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12 August 2017

published in

Nature Reviews Genetics

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12 August 2017

volume

6

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12 August 2017

issue

6

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12 August 2017

page(s)

488-501

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Christmas disease: a condition previously mistaken for haemophilia

12 August 2017

cites work

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The history of haemophilia

21 January 2018

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Characterization of the human factor VIII gene

21 January 2018

1 reference

Molecular basis of haemophilia A.

21 January 2018

1 reference

Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene

21 January 2018

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Management of haemophilia and its complications in developing countries

21 January 2018

1 reference

Molecular etiology of factor VIII deficiency in hemophilia A.

21 January 2018

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Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII

21 January 2018

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Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

21 January 2018

1 reference

Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

21 January 2018

1 reference

Identification of two point mutations in the von Willebrand factor gene of three families with the ‘Normandy’variant of von Willebrand disease

21 January 2018

1 reference

First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene

21 January 2018

1 reference

Factor V Leiden: association with venous thromboembolism in pregnancy and screening issues

21 January 2018

1 reference

Does the MTHFR 677T allele alter the clinical phenotype in severe haemophilia A?

21 January 2018

1 reference

Physical map of human Xq27-qter: localizing the region of the fragile X mutation

21 January 2018

1 reference

A transcribed gene in an intron of the human factor VIII gene

21 January 2018

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Sequence of the human factor VIII-associated gene is conserved in mouse

21 January 2018

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Isolation of a 40-kDa Huntingtin-associated protein

21 January 2018

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Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice

21 January 2018

1 reference

Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia

21 January 2018

1 reference

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

21 January 2018

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Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients

21 January 2018

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Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

21 January 2018

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Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

21 January 2018

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Homeologous recombination between AluSx-sequences as a cause of hemophilia

21 January 2018

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Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24.

21 January 2018

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Analysis of haemophilia B database and strategies for identification of common point mutations in the factor IX gene

21 January 2018

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Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.

21 January 2018

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cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene

21 January 2018

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Expression of active human factor VIII from recombinant DNA clones

21 January 2018

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A Tyr346-->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy

21 January 2018

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CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site

21 January 2018

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Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

21 January 2018

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Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

21 January 2018

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Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.

21 January 2018

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Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods

21 January 2018

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Molecular biology of blood coagulation

21 January 2018

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Inhibitors in hemophilia A: mechanisms of inhibition, management and perspectives

21 January 2018

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Nonsense-mediated decay approaches the clinic

21 January 2018

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Structure and function of the factor VIII gene and protein

21 January 2018

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3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography

21 January 2018

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Topology of factor VIII bound to phosphatidylserine-containing model membranes

21 January 2018

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Lower inhibitor development in hemophilia A mice following administration of recombinant factor VIII-O-phospho-L-serine complex

21 January 2018

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The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development

21 January 2018

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Correlation between factor VIII genotype and inhibitor development in hemophilia A.

21 January 2018

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Mutating factor VIII: lessons from structure to function

21 January 2018

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The future of recombinant coagulation factors.

21 January 2018

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21 January 2018

Haemophilias A and B.

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Prospects for gene therapy of haemophilia

21 January 2018

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Meta-analytic evidence of increased breakthrough bleeding during prophylaxis with B-domain deleted factor VIII.

21 January 2018

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Increased breakthrough bleeding during prophylaxis with B-domain deleted factor VIII--a robust meta-analytic finding

21 January 2018

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B-domain deleted recombinant factor VIII preparations are bioequivalent to a monoclonal antibody purified plasma-derived factor VIII concentrate: a randomized, three-way crossover study

21 January 2018

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Clinical evaluation of B-domain deleted recombinant factor VIII in previously untreated patients

21 January 2018

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Bioengineering of coagulation factor VIII for improved secretion

21 January 2018

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Characterization of a genetically engineered inactivation-resistant coagulation factor VIIIa

21 January 2018

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Low molecular weight peptides restore the procoagulant activity of factor VIII in the presence of the potent inhibitor antibody ESH8.

21 January 2018

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Peptide decoys selected by phage display block in vitro and in vivo activity of a human anti-FVIII inhibitor.

21 January 2018

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High incidence of anti-FVIII antibodies against non-coagulant epitopes in haemophilia A patients: a possible role for the half-life of transfused FVIII.

21 January 2018

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Antibodies with hydrolytic activity towards factor VIII in patients with hemophilia A.

21 January 2018

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Massive factor-VIII infusion in haemophiliac with factor-VIII inhibitor, high responder

21 January 2018

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Factor VIII Inhibitors. Natural autoantibodies and anti-idiotypes

21 January 2018

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Sustained human factor VIII expression in hemophilia A mice following systemic delivery of a gutless adenoviral vector

21 January 2018

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Helper-dependent adenoviral vectors mediate therapeutic factor VIII expression for several months with minimal accompanying toxicity in a canine model of severe hemophilia A

21 January 2018

1 reference

Clinical gene transfer studies for hemophilia A.

21 January 2018

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Phase 1 trial of FVIII gene transfer for severe hemophilia A using a retroviral construct administered by peripheral intravenous infusion

21 January 2018

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In vivo treatment of hemophilia A and mucopolysaccharidosis type VII using nonprimate lentiviral vectors.

21 January 2018

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Nonviral transfer of the gene encoding coagulation factor VIII in patients with severe hemophilia A.

21 January 2018

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Sequence of the murine factor VIII cDNA.

21 January 2018

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The hemophilias--from royal genes to gene therapy

21 January 2018

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

21 January 2018

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Structure of human factor VIII

21 January 2018

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A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the secon

21 January 2018

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Do prothrombotic factors influence clinical phenotype of severe haemophilia? A review of the literature

31 March 2020

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Mutagenesis of a potential immunoglobulin-binding protein-binding site enhances secretion of coagulation factor VIII

31 March 2020

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An engineered interdomain disulfide bond stabilizes human blood coagulation factor VIIIa

31 March 2020

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Sequence of the rat factor VIII cDNA

31 March 2020

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Structural requirements for the activation of human factor VIII by thrombin

31 March 2020

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Plasma thromboplastin component (PTC) deficiency; a new disease resembling hemophilia

31 March 2020

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Identifiers

DOI

10.1038/NRG1617

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12 August 2017

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