Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

No abstract is available for this paper.

• Publication year

  1991

• Venue

  Nucleic Acids Research

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  PMID 1923751PMCID PMC328775
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

  1991cited by this paper
• Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor.

  1991cited by this paper
• Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.

  1991cited by this paper
• Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.

  1991cited by this paper
• Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.

  1991cited by this paper
• Synthetic factor VIII peptides with amino acid sequences contained within the C2 domain of factor VIII inhibit factor VIII binding to phosphatidylserine.

  1990cited by this paper
• Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

  1990cited by this paper
• Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria

  1990cited by this paper
• cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like domains linked to factor VIII-like sequences.

  1990cited by this paper
• Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

  1990cited by this paper
• The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

  1990cited by this paper
• CRM+ haemophilia A due to a missense mutation (372→Cys) at the internal heavy chain thrombin cleavage site

  1990cited by this paper
• The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.

  1990cited by this paper
• Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

  1990cited by this paper
• Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

  1990cited by this paper
• Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A.

  1990cited by this paper
• Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

  1990cited by this paper
• Molecular analysis of hemophilia A mutations in the Finnish population.

  1990cited by this paper
• Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.

  1990cited by this paper
• The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

  1990cited by this paper
• Somatic origin of inherited haemophilia A

  1990cited by this paper
• Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A.

  1990cited by this paper
• Molecular genetic analysis of a novel form of haemophilia A characterized by the variable expression of factor VIII.

  1990cited by this paper
• Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

  1990cited by this paper
• Genetic analysis of protein stability and function.

  1989cited by this paper
• A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

  1989cited by this paper
• Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A.

  1989cited by this paper
• Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

  1989cited by this paper
• Mutational effects on protein stability.

  1989cited by this paper
• Illegitimate transcription: transcription of any gene in any cell type.

  1989cited by this paper
• Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements.

  1989cited by this paper
• Partial deletions of factor VIII gene as molecular diagnostic markers in haemophilia A.

  1989cited by this paper
• Mosaicism and sporadic haemophilia: implications for carrier determination.

  1989cited by this paper
• Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis.

  1989cited by this paper
• Factor VIII structure and function.

  1989cited by this paper
• An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule.

  1989cited by this paper
• Structure-Function Relationships of Factor VIII Elucidated through Recombinant DNA Technology

  1989cited by this paper
• A recurrent missense mutation (Arg → Gln) and a partial deletion in factor VIII gene causing severe haemophilia A

  1989cited by this paper
• Factor VIII and haemophilia A.

  1989cited by this paper
• Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

  1989cited by this paper
• Proteolytic requirements for thrombin activation of anti-hemophilic factor (factor VIII).

  1988cited by this paper
• Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

  1988cited by this paper
• Mutations of factor VIII cleavage sites in hemophilia A.

  1988cited by this paper
• Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody

  1988cited by this paper
• Factor VIII Procoagulant Protein Interacts with Phospholipid Vesicles Via its 80 kDa Light Chain

  1988cited by this paper
• An immunogenic region within residues Val1670-Glu1684 of the factor VIII light chain induces antibodies which inhibit binding of factor VIII to von Willebrand factor.

  1988cited by this paper
• Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene.

  1988cited by this paper
• A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody

  1988cited by this paper
• Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor

  1988cited by this paper
• Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A

  1988cited by this paper
• Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene.

  1988cited by this paper
• Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.

  1988cited by this paper
• A HindIII RFLP and a gene lesion in the coagulation factor VIII gene

  1988cited by this paper
• A somatic mosaic for haemophilia A detected at the DNA level.

  1988cited by this paper
• Synthesis, processing, and secretion of recombinant human factor VIII expressed in mammalian cells.

  1988cited by this paper
• Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

  1988cited by this paper
• Maternal duplication associated with gene deletion in sporadic hemophilia.

  1988cited by this paper
• The CpG dinucleotide and human genetic disease

  1988cited by this paper
• Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders.

  1988cited by this paper
• Carrier detection of haemophilia A using DNA markers in families with an isolated affected male

  1987cited by this paper
• A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.

  1987cited by this paper
• Characterization of five partial deletions of the factor VIII gene.

  1987cited by this paper
• Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.

  1986cited by this paper
• Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

  1986cited by this paper
• Detection and sequence of mutations in the factor VIII gene of haemophiliacs         

  1985cited by this paper
• Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

  1985cited by this paper
• Characterization of the Polypeptide Composition of Human Factor VIII:C and the Nucleotide Sequence and Expression of the Human Kidney cDNA

  1985cited by this paper
• Structure of human factor VIII

  1984cited by this paper
• Characterization of the human factor VIII gene

  1984cited by this paper
• Molecular cloning of a cDNA encoding human antihaemophilic factor

  1984cited by this paper

• Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females

  2025cites this paper
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  2024cites this paper
• F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project

  2023cites this paper
• SAXS analysis of the intrinsic tenase complex bound to a lipid nanodisc highlights intermolecular contacts between factors VIIIa/IXa

  2022cites this paper
• Structure of Blood Coagulation Factor VIII in Complex with an Anti-C1 Domain Pathogenic Antibody Inhibitor.

  2021cites this paper
• Discrepant Hemophilia A: An Underdiagnosed Disease Entity.

  2020cites this paper
• The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

  2020cites this paper
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  2018cites this paper
• Prenatal diagnosis of sex chromosomal inversion, translocation and deletion

  2017cites this paper
• Factor VIII Antigen, Activity, and Mutations in Hemophilia A

  2016cites this paper
• In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A

  2015cites this paper
• Modeling of hemophilia A using patient-specific induced pluripotent stem cells derived from urine cells.

  2014cites this paper
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  2014cites this paper
• Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients

  2014cites this paper
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  2013cites this paper
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  2012cites this paper
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  2012cites this paper
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  2012cites this paper
• HindIII-based restriction fragment length polymorphism in hemophilic and nonhemophilic patients

  2010cites this paper
• Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice‐sites

  2009cites this paper
• Some endocrine traits of transgenic rabbits. I. Changes in plasma and milk hormones.

  2008cites this paper
• Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization

  2008cites this paper
• Factor V Leiden improves in vivo hemostasis in murine hemophilia models

  2005cites this paper
• Genotype–phenotype correlation in MYH9‐related thrombocytopenia

  2005cites this paper
• Genetic analysis of haemophilia A in Bulgaria

  2004cites this paper
• Polymorphism distribution of Int13, Int22, and St14 VNTRs in a Mexican population and their application in carrier diagnosis of hemophilia A

  2004cites this paper
• Blood coagulation factor VIII: An overview

  2003cites this paper
• Mutation reports: Intron 1 and 22 inversions in Indian haemophilics

  2003cites this paper
• Haemophilia: treatment options

  2003cites this paper
• Haemophilia: treatment options

  2003cites this paper
• Optimization of factor VIII replacement therapy: can structural studies help in evading antibody inhibitors?

  2002cites this paper
• Characterization of antibodies to coagulation factor VIII

  2002cites this paper
• Temporal and spatial expression of biologically active human factor VIII in the milk of transgenic mice driven by mammary-specific bovine α-lactalbumin regulation sequences

  2002cites this paper
• Carrier detection and prenatal diagnosis in haemophilia in India: realities and challenges

  2002cites this paper
• Structure of a factor VIII C2 domain-immunoglobulin G4kappa Fab complex: identification of an inhibitory antibody epitope on the surface of factor VIII.

  2001cites this paper
• In hemophilia A and autoantibody inhibitor patients: the factor VIII A2 domain and light chain are most immunogenic.

  2001cites this paper
• Haemophilias: advances towards genetic engineering replacement therapy.

  2000cites this paper
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  2000cites this paper
• Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

  2000cites this paper
• Why do inhibitors arise in patients with haemophilia A?

  1999cites this paper
• Adenoviral Vector-Mediated Expression of Physiologic Levels of Human Factor VIII in Nonhuman Primates

  1999cites this paper
• 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.

  1999cites this paper
• Expression of human blood clotting factor VIII in the mammary gland of transgenic sheep

  1999cites this paper
• Gene therapy for the hemophilias.

  1999cites this paper
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  1998cites this paper
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  1998cites this paper
• The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

  1998cites this paper
• Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes

  1998cites this paper
• Factor VIII Inhibitors in Mild and Moderate-severity Haemophilia A

  1998cites this paper
• The subclass approach for mutational spectrum analysis: application of the SEM algorithm.

  1998cites this paper
• Current Practice in the Treatment of Haemophilia.

  1997cites this paper
• Identification of Novel Factor VIII Inhibitor Epitopes using Synthetic Peptide Arrays

  1997cites this paper
• Twenty‐one years of haemophilia

  1997cites this paper
• Cytogenetic analysis of German shepherd dogs with haemophilia A.

  1997cites this paper
• Absence of Inhibitors in Previously Untreated Patients with Severe Haemophilia A after Exposure to a Single Intermediate Purity Factor VIII Product

  1997cites this paper
• Studies to detect carriers of haemophilia A in German shepherd dogs using diagnostic DNA polymorphisms in the human factor VIII gene.

  1997cites this paper
• Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.

  1997cites this paper
• HLA Class II Profile: A Weak Determinant of Factor VIII Inhibitor Development in Severe Haemophilia A

  1997cites this paper
• Rapid Polymerase Chain Reaction Analysis of St14 (DXS52) VNTR: Carrier Detection of Hemophilia A

  1997cites this paper
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  1997cites this paper
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  1997cites this paper
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  1996cites this paper
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  1996cites this paper
• Molecular detection or carriers of hemophilia A in Mexican families.

  1996cites this paper
• A novel DNA inversion causing severe hemophilia A.

  1996cites this paper
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  1996cites this paper
• Current strategy for genetic analysis of haemophilia A families

  1996cites this paper
• The human clotting factor VIII cDNA contains an autonomously replicating sequence consensus- and matrix attachment region-like sequence that binds a nuclear factor, represses heterologous gene expression, and mediates the transcriptional effects of sodium butyrate

  1996cites this paper
• Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

  1996cites this paper
• Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene

  1996cites this paper
• DDAVP infusion in haemophilia A carriers: different behaviour of plasma factor VIII and von Willebrand factor.

  1996cites this paper
• [Molecular genetics of hemophilia A].

  1996cites this paper
• Expression of the blood-clotting factor-VIII cDNA is repressed by a transcriptional silencer located in its coding region.

  1995cites this paper
• Inversions of the factor VIII gene in Swedish patients with severe haemophilia A

  1995cites this paper
• Genetic diagnosis of haemophilia A of Chinese origin

  1995cites this paper
• Molecular etiology of factor VIII deficiency in hemophilia A.

  1995cites this paper
• Haemophilia A: Mutation Type Determines Risk of Inhibitor Formation

  1995cites this paper
• Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.

  1995cites this paper
• Carrier detection and prenatal diagnosis by intron 22 inversion analysis of the factor VIII gene

  1995cites this paper
• St14 (DXS52) VNTR in the Chinese population and its application to genetic diagnosis of haemophilia A.

  1995cites this paper
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  1995cites this paper
• The hemophilias.

  1995cites this paper
• Inversion of Intron 22 in Isolated Cases of Severe Hemophilia A

  1995cites this paper
• Inhibitors to Factor VIII in a Family with Mild Hemophilia: Molecular Characterization and Response to Factor VIII and Desmopressin

  1995cites this paper
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  1995cites this paper
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  1995cites this paper
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  1995cites this paper
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  1995cites this paper
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  1995cites this paper
• A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot.

  1995cites this paper
• Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs

  1995cites this paper
• Factor VIII inhibitors

  1995cites this paper
• Hemophilia and von Willebrand's disease: 2. Management. Association of Hemophilia Clinic Directors of Canada.

  1995cites this paper
• Family studies in an extremely large mild haemophilia A pedigree which includes 10% of Greek haemophiliacs

  1995cites this paper
• Screening for mutations in haemophilia A patients by multiplex PCR‐SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients

  1995cites this paper
• Severe haemophilia A in a female resulting from two de novo factor VIII mutations

  1995cites this paper
• Flip tip inversion and haemophilia A.

  1994cites this paper
• GTPase activation of ATP sulfurylase: the mechanism.

  1994cites this paper
• Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A

  1994influential citation
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  1994cites this paper