Haemophilia B: database of point mutations and short additions and deletions, 7th edition

No abstract is available for this paper.

• Publication year

  1990

• Venue

  Nucleic Acids Res.

• Publication date

  1990-07-25

• Fields of study

  Biology, Medicine, Computer Science

• Identifiers
  DOI 10.1093/NAR/25.1.133PMID 9016521PMCID PMC146360
• 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.

• Haemophilia B (sixth edition): a database of point mutations and short additions and deletions

  1996cited by this paper
• Transcriptional regulation of the human factor IX promoter by the orphan receptor superfamily factors, HNF4, ARP1 and COUP/Ear3

  1996cited by this paper
• X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B.

  1995cited by this paper
• The hemophilias.

  1995cited by this paper
• Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169.

  1994cited by this paper
• First Report on UK Database of Haemophilia B Mutations and Pedigrees

  1994cited by this paper
• The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene.

  1994cited by this paper
• Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation

  1993cited by this paper
• Molecular Biology of Hemophilia B

  1993cited by this paper
• Hemophilia B Leyden: substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter.

  1993cited by this paper
• Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue.

  1992cited by this paper
• Glutamate panorama.

  1992cited by this paper
• Key residues involved in calcium-binding motifs in EGF-like domains

  1991cited by this paper
• Haemophilia B: database of point mutations and short additions and deletions--second edition.

  1991cited by this paper
• Molecular biology of the hemophilias.

  1991cited by this paper
• A past mutation at Isoleucine397 is now a common cause of moderate/mild haemophilia B

  1990cited by this paper
• Comparative sequence analysis of mammalian factor IX promoters.

  1990cited by this paper
• Blood.

  1989cited by this paper
• Thrombosis and Haemostasis

  1988cited by this paper
• A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX.

  1988cited by this paper
• Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

  1985cited by this paper

• An updated interactive database for 1692 genetic variants in coagulation Factor IX provides detailed insights into haemophilia B.

  2023cites this paper
• Diseases of the blood

  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
• Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies

  2019cites this paper
• Mutation of Factor IX Cys178 is intolerant and may cause severe hemophilia B.

  2019cites this paper
• Furin‐mediated protein processing in infectious diseases and cancer

  2019cites this paper
• Hemophilia A and Hemophilia B

  2018cites this paper
• A novel Ala275Val mutation in factor X gene influences its structural compatibility and impairs intracellular trafficking and coagulant activity.

  2016cites this paper
• Mutational analysis of hemophilia B in Russia: Molecular-genetic study

  2016cites this paper
• Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

  2016cites this paper
• Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria

  2015cites this paper
• [A quick and efficient method to generate hemophilia B mouse models by the CRISPR/Cas system].

  2015cites this paper
• Hemophilia B: molecular pathogenesis and mutation analysis

  2015cites this paper
• A recurrent Gly43Asp substitution in coagulation Factor X rigidifies its catalytic pocket and impairs catalytic activity and intracellular trafficking.

  2014cites this paper
• Mutation analysis of a cohort of US patients with hemophilia B

  2014cites this paper
• Hemophilia B Leyden and once mysterious cis-regulatory mutations.

  2014cites this paper
• phospholipid binding and severe functional protein S deficiency Protein S Gla-domain mutations causing impaired Ca2+-induced

  2013cites this paper
• Preclinical safety and efficacy of a new recombinant FIX drug product for treatment of hemophilia B

  2013cites this paper
• An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B

  2013cites this paper
• Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity

  2013cites this paper
• 4 – Hemophilia A and B

  2013cites this paper
• A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.

  2013cites this paper
• Genetic and biochemical studies of human apobec family of proteins

  2012cites this paper
• 私のTranslational research —血友病 B研究の軌跡—

  2012cites this paper
• Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

  2012cites this paper
• Site-specific O-Glucosylation of the Epidermal Growth Factor-like (EGF) Repeats of Notch

  2012cites this paper
• Epitope reactions can be gauged by relative antibody discriminating specificity (RADS) values supported by deletion, substitution and cysteine bridge formation analyses: potential uses in pathogenesis studies

  2012cites this paper
• In Silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B

  2012cites this paper
• Large-scale computational identification of regulatory SNPs with rSNP-MAPPER

  2012cites this paper
• Inborn Defects of the Coagulative System

  2012cites this paper
• Ribosome readthrough accounts for secreted full‐length factor IX in hemophilia B patients with nonsense mutations

  2012cites this paper
• protease domain of factor IX Hemophilia B caused by five different nondeletion mutations in the

  2011cites this paper
• Perinatal Clinical Care and Molecular Diagnosis in Hemophilia

  2011cites this paper
• Clinical advances in hemophilia management

  2011cites this paper
• molecule with reduced activity isolated from a clinically unaffected Purification and characterization of factor VII 304-Gln: a variant

  2011cites this paper
• RNA‐based therapeutic approaches for coagulation factor deficiencies

  2011cites this paper
• Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation.

  2011cites this paper
• Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.

  2011cites this paper
• scanning method for the analysis of the protein S active gene three polymorphisms in 19 patients with protein S deficiency using a Identification of 15 different candidate causal point mutations and

  2011cites this paper
• [Genomics of the royal disease, Queen Victoria's hemophilia].

  2010cites this paper
• The protein C ω‐loop substitution Asn2Ile is associated with reduced protein C anticoagulant activity

  2009cites this paper
• Descriptively Probabilistic Relationship Between Mutated Primary Structure of coagulation factor IX and clinical Sever - ity of hemophilia B

  2009cites this paper
• MOLECULAR CHARACTERIZATION OF THE FACTOR IX GENE IN 28 IRANIAN HEMOPHILIA B PATIENTS

  2009cites this paper
• An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden

  2009cites this paper
• Hereditary angioedema in Greek families caused by novel and recurrent mutations.

  2009cites this paper
• Major differences in bleeding symptoms between factor VII deficiency and hemophilia B

  2009cites this paper
• The use of rituximab as an adjuvant for immune tolerance therapy in a hemophilia B boy with inhibitor and anaphylaxis to factor IX concentrate

  2008cites this paper
• Molecular Analysis of Factor IX Gene in an Iranian Female with Severe Hemophilia B

  2008cites this paper
• CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K–dependent coagulation serine proteases using a text‐mining tool

  2008cites this paper
• Probing conformational plasticity of the activation domain of trypsin: the role of glycine hinges.

  2008cites this paper
• Functional Analysis of the Factor IX Epidermal Growth Factor-Like Domain Mutation Ile66Thr Associated with Mild Hemophilia B

  2007cites this paper
• Snake-venom-derived Factor IX-binding protein specifically blocks the gamma-carboxyglutamic acid-rich-domain-mediated membrane binding of human Factors IX and X.

  2007cites this paper
• Remarkable Variation in the Informativeness of RFLP Markers Linked to Hemophilia B Locus in Indian Population Groups: Implication in the Strategy for Carrier Detection

  2007cites this paper
• Chapter 4 – Hemophilia A and B

  2007cites this paper
• A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population

  2007cites this paper
• Modulation of tolerance to the transgene product in a nonhuman primate model of AAV-mediated gene transfer to liver.

  2007cites this paper
• Computational study of coagulation factor VIIa’s affinity for phospholipid membranes

  2007cites this paper
• Genetic background of type I protein C deficiency in Finland.

  2006cites this paper
• Hemophilia as a Model Disease for Gene Therapy of Genetic Disorders

  2006cites this paper
• A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B

  2006cites this paper
• The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B.

  2005cites this paper
• Na+ site in blood coagulation factor IXa: effect on catalysis and factor VIIIa binding.

  2005cites this paper
• Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling

  2005cites this paper
• Gene Therapy Using Encapsulated Cells

  2005cites this paper
• Post‐translational modifications in proteins involved in blood coagulation

  2005cites this paper
• Structural Consequences of Cysteine Substitutions C1977Y and C1977R in Calcium-binding Epidermal Growth Factor-like Domain 30 of Human Fibrillin-1*

  2004cites this paper
• Carrier determination in a Hemophilia B family using single strand conformation polymorphism (SSCP) and sequencing

  2004cites this paper
• Creation of a mouse expressing defective human factor IX.

  2004cites this paper
• A thalassaemia array for Southeast Asia

  2004cites this paper
• Recent advances in the management of the child who has hemophilia.

  2004cites this paper
• Gerinnungsfaktoren VII, VIII, IX und X

  2004cites this paper
• Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients

  2004cites this paper
• Genetic Mechanisms of Hereditary Hemostasis Disorders

  2004cites this paper
• Novel hemophilia B mouse models exhibiting a range of mutations in the Factor IX gene.

  2004cites this paper
• Reconstructing the binding site of factor Xa in trypsin reveals ligand-induced structural plasticity.

  2003cites this paper
• Molecular Analysis of Hemophilia B: »Greifswald Registry FIX Deficiency (Hemophilia B)«

  2003cites this paper
• Gly222Asp and Ser379Lys — Novel Factor X Gene Mutations in severe FX Deficiency — Greifswald Registry of Factor X congenital Deficiency

  2003cites this paper
• Meta‐analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

  2003cites this paper
• Functional analysis of the EGF‐like domain mutations Pro55Ser and Pro55Leu, which cause mild hemophilia B

  2003cites this paper
• A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs

  2003cites this paper
• Immune Responses in Gene Transfer for Genetic Disorders

  2003cites this paper
• Two double heterozygous mutations in the F7 gene show different manifestations

  2002cites this paper
• Factor VIII and transmissible spongiform encephalopathy: the case for safety

  2002cites this paper
• Direct analysis for familial adenomatous polyposis mutations

  2002cites this paper
• Gene mutations and three‐dimensional structural analysis in 13 families with severe factor X deficiency

  2002cites this paper
• Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency.

  2002cites this paper
• Molecular and Cellular Hemostasis and Fibrinolysis

  2002cites this paper
• Gene therapy for hemophilia

  2001cites this paper
• Human populations show reduced DNA sequence variation at the factor IX locus.

  2001cites this paper
• Posttranslational modifications of recombinant myotube-synthesized human factor IX.

  2001cites this paper
• Greifswald Hemophilia B Study

  2001cites this paper
• Clotting factors VIII and IX

  2001cites this paper
• Haemophilia B mutations in Sweden: a population‐based study of mutational heterogeneity

  2001cites this paper
• Rescue of Fatal Neonatal Hemorrhage in Factor V Deficient Mice by Low Level Transgene Expression

  2000cites this paper
• Single nucleotide polymorphisms of the factor IX gene for linkage analysis in the southern Chinese population.

  2000cites this paper
• Ionizing radiation and genetic risks. XII. The concept of "potential recoverability correction factor" (PRCF) and its use for predicting the risk of radiation-inducible genetic disease in human live births.

  2000cites this paper
• Identification and Three-dimensional Structural Analysis of Nine Novel Mutations in Patients with Prothrombin Deficiency

  2000cites this paper
• Haemophilias: advances towards genetic engineering replacement therapy.

  2000cites this paper
• Factor IX gene sequencing by a simple and sensitive 15‐hour procedure for haemophilia B diagnosis: identification of two novel mutations

  2000cites this paper
• Ionizing radiation and genetic risks. XIII. Summary and synthesis of papers VI to XII and estimates of genetic risks in the year 2000.

  2000cites this paper