Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.

No abstract is available for this paper.

• Publication year

  1985

• Venue

  Proceedings of the National Academy of Sciences of the United States of America

• Publication date

  1985-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1073/PNAS.82.9.2847PMID 3857619PMCID PMC397663
• 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.

• Dideoxy DNA sequencing with end-labeled oligonucleotide primers.

  1984cited by this paper
• Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency).

  1984cited by this paper
• Isolation and characterization of human factor IX cDNA: Identification of Taq I polymorphism and regional assignment

  1984cited by this paper
• Sequence-determined DNA separations.

  1984cited by this paper
• The gene structure of human anti‐haemophilic factor IX.

  1984cited by this paper
• Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis.

  1983cited by this paper
• Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

  1983cited by this paper
• Gene deletions in patients with haemophilia B and anti-factor IX antibodies

  1983cited by this paper
• alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

  1983cited by this paper
• Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.

  1983cited by this paper
• Random subcloning of sonicated DNA: application to shotgun DNA sequence analysis.

  1983cited by this paper
• Isolation and sequence characterization of a cDNA clone of human antithrombin III.

  1983cited by this paper
• Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

  1983cited by this paper
• Factor IX Deventer-Evidence for the Heterogeneity of Hemophilia BM

  1982cited by this paper
• A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments.

  1982cited by this paper
• Isolation and characterization of a cDNA coding for human factor IX.

  1982cited by this paper
• Isolation of cDNA clones for the human complement protein factor B, a class III major histocompatibility complex gene product.

  1982cited by this paper
• Structural abnormalities of the vitamin K-dependent clotting factors.

  1981cited by this paper
• Solid-phase synthesis of polynucleotides. III. Synthesis of polynucleotides with defined sequences by the block coupling phosphotriester method.

  1980cited by this paper
• Activation of human factor IX (Christmas factor).

  1978cited by this paper
• A new method for sequencing DNA.

  1977cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper
• Chromatography of human prothrombin complex or dextran sulphate agarose.

  1977cited by this paper
• A comparison of human prothrombin, factor IX (Christmas factor), factor X (Stuart factor), and protein S.

  1977cited by this paper
• The application of 0.1 M quadrol to the microsequence of proteins and the sequence of tryptic peptides.

  1975cited by this paper
• The mechanism of activation of bovine factor IX (Christmas factor) by bovine factor XIa (activated plasma thromboplastin antecedent).

  1974cited by this paper
• A protein sequenator.

  1967cited by this paper

• Estimating genetic basis of venous thromboembolism (VTE) risk in Indian population: A case control study

  2025cites this paper
• Genetic variant detection in a South African haemophilia B population

  2024cites this paper
• Enhanced procoagulant activity of select hemophilia B causing factor IX variants with emicizumab

  2024cites this paper
• Soluble expression of recombinant coagulation factor IX protein using Escherichia coli

  2024cites this paper
• Coagulation factor IX analysis in bioreactor cell culture supernatant predicts quality of the purified product

  2021cites this paper
• Coagulation factor IX analysis in bioreactor cell culture supernatant predicts quality of the purified product

  2021cites this paper
• Mutation analysis and characterisation of F9 gene in haemophilia-B population of India

  2021cites this paper
• Analysis of coagulation factor IX in bioreactor cell culture medium predicts yield and quality of the purified product

  2020cites this paper
• Identification of novel glycosylation events on human serum-derived factor IX

  2019cites this paper
• Factor IX

  2014cites this paper
• Carboxyterminal Cleavage Site of the Activation Peptide

  2013cites this paper
• Differential investigations from plasma‐derived and recombinant Factor IX revealed major differences in post‐translational modifications of activation peptides

  2013cites this paper
• hemophilia B Factor IXAlabama: a point mutation in a clotting protein results in

  2011cites this paper
• cardiopulmonary bypass (see comments) Mechanisms of thrombin generation during surgery and

  2011cites this paper
• Two allotypes of factor IX present in haemophilia B.

  2009cites this paper
• Total synthesis of a unique tetrasaccharide present in the human clotting factor IX and mammalian Notch 1 receptor

  2009cites this paper
• Gene variants associated with deep vein thrombosis.

  2008cites this paper
• Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians

  2007cites this paper
• Monoclonal Antibodies to Coagulation Factor IX Define a High-Frequency Polymorphism by Immunoassays

  2006cites this paper
• EGF-Iike Regions XIa NORMAL AND HEMOPHILIC FACTOR IXs

  2005cites this paper
• carboxyterminal cleavage site of the activation peptide Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the

  2005cites this paper
• Molecular Cloning of a cDNA Encoding Canine Factor

  2005cites this paper
• The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B

  2005cites this paper
• Creation of a mouse expressing defective human factor IX.

  2004cites this paper
• Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.

  2004cites this paper
• Evaluation of denaturing high‐performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients

  2004cites this paper
• DNA variation in a 13‐Mb region including the F9 gene: inferring the genealogical history and causal role of a hemophilia B mutation (IVS 5+13 A→G)

  2003cites this paper
• Haemophilia A and haemophilia B: molecular insights

  2002cites this paper
• Hemophilia B with Mutations at Glycine-48 of Factor IX Exhibited Delayed Activation by the Factor VIIa-tissue Factor Complex

  2000cites this paper
• The rhesus macaque as an animal model for hemophilia B gene therapy.

  1999cites this paper
• Molekularbiologie und Genetik der Hämophilie B

  1999cites this paper
• Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis

  1999cites this paper
• Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel

  1998cites this paper
• The molecular basis of haemophilia B

  1998cites this paper
• Detection of Ten New Mutations by Screening the Gene Encoding Factor IX of Danish Hemophilia B Patients

  1995cites this paper
• A new hemophilia B mutation in the propeptide region of the FIX gene

  1995cites this paper
• Factor IX Bm Kiryu: a Val‐313‐to‐Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling

  1994cites this paper
• Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169.

  1994cites this paper
• Factor IX gene haplotypes in Brazilian Blacks and characterization of unusual Ddel alleles

  1994cites this paper
• Hemoglobin F synthesis is not restricted to fetal erythropoietic organs during extramedullary hematopoiesis.

  1994cites this paper
• Characterization of a factor IX variant with a glycine207 to glutamic acid mutation.

  1994cites this paper
• Variations among Japanese of the factor IX gene (F9) detected by PCR-denaturing gradient gel electrophoresis.

  1993cites this paper
• Factor IX Fukuoka. Substitution of ASN92 by His in the second epidermal growth factor-like domain results in defective interaction with factors VIIa/X.

  1993cites this paper
• Recurrent mutations in the factor IX gene: founder effect or repeat de novo events

  1993cites this paper
• Mechanisms of thrombin generation during surgery and cardiopulmonary bypass.

  1993cites this paper
• Cloning and functional expression of a cDNA encoding the catalytic subunit of bovine enterokinase.

  1993cites this paper
• Mechanisms of thrombin generation during surgery and cardiopulmonary bypass [see comments]

  1993cites this paper
• Genetic Basis and Carrier Detection of Hemophilia B of Chinese Origin

  1993cites this paper
• Single‐strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B

  1993cites this paper
• Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis.

  1993cites this paper
• Haplotype Analysis of Identical Factor IX Mutants Using PCR

  1992cites this paper
• Parental origin of factor IX gene mutations, and their distribution in the gene.

  1992cites this paper
• Biology of factor IX.

  1992cites this paper
• Characterization of a rabbit factor IX cDNA.

  1992cites this paper
• Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue.

  1992cites this paper
• Molecular defects in haemophilia B: detection by direct restriction enzyme analysis

  1991cites this paper
• Genetics and molecular biology of haemophilias A and B.

  1991cites this paper
• Characterization of Genetic Defects of Hemophilia B of Chinese Origin

  1991cites this paper
• Low nucleotide diversity in man.

  1991cites this paper
• Population genetics of the Malmö polymorphism of coagulation factor IX.

  1991cites this paper
• Molecular defects of Factor IX

  1991cites this paper
• Factor IX: Gene Structure and Protein Synthesis

  1991cites this paper
• Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.

  1991cites this paper
• Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species.

  1990cites this paper
• Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B.

  1990cites this paper
• Deduced amino acid sequence of mouse blood-coagulation factor IX.

  1990cites this paper
• Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

  1990cites this paper
• Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B

  1990cites this paper
• Linkage of a gene for neural cell adhesion molecule, L1 (CamL1) to the Rsvp region of the mouse X chromosome.

  1990cites this paper
• Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo.

  1989cites this paper
• Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

  1989cites this paper
• Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide.

  1989cites this paper
• Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145

  1989cites this paper
• Comparison of the physical and recombination maps of the mouse X chromosome.

  1989cites this paper
• Molecular cloning of a cDNA encoding canine factor IX.

  1989cites this paper
• A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver.

  1989cites this paper
• Molecular defects of factor IX Chicago-2 (Arg 145----His) and prothrombin Madrid (Arg 271----cys): arginine mutations that preclude zymogen activation.

  1989cites this paper
• 3 Factor IX

  1989cites this paper
• 6 Molecular biology of factor X

  1989cites this paper
• Canine hemophilia B resulting from a point mutation with unusual consequences.

  1989cites this paper
• The Use of DNA Amplification for Genetic Counselling Related Diagnosis in Haemophilia B

  1989cites this paper
• Molecular biology of factor X.

  1989cites this paper
• Structure of the genes encoding proteins involved in blood clotting

  1988cites this paper
• A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.

  1988cites this paper
• Human coagulation factor IX: direct depletion and recovery from plasma, using immobilised monoclonal antibody.

  1988cites this paper
• Multilocus molecular mapping of the mouse X chromosome.

  1988cites this paper
• The Malmö polymorphism of coagulation factor IX, an immunologic polymorphism due to dimorphism of residue 148 that is in linkage disequilibrium with two other F.IX polymorphisms.

  1988cites this paper
• Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

  1987cites this paper
• The molecular pathology of haemophilia B. Fourth Wellcome Trust lecture.

  1987cites this paper
• Human genes for factor IX and other vitamin K dependent blood proteins.

  1987cites this paper
• Antigen-specific messenger RNA for immunological research: purification and characterization of RNA from intestinal epithelial cells using specific antibody.

  1987cites this paper
• MAPPING OF 6 MONOCLONAL ANTIBODIES TO HUMAN FACTOR IX

  1987cites this paper
• Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.

  1987cites this paper
• Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism.

  1987cites this paper
• Carrier detection in the hemophilias

  1987cites this paper
• Nucleotide sequence of a cDNA for a member of the human 90-kDa heat-shock protein family.

  1987cites this paper
• Expression of human factor IX and its subfragments in Escherichia coli and generation of antibodies to the subfragments.

  1987cites this paper
• THE IDENTIFICATION OF HAEMOPHILIA B MUTATIONS

  1987cites this paper
• Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups.

  1987cites this paper
• Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

  1986cites this paper