Literature DB >> 9016520

The Factor VIII Mutation Database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0).

G Kemball-Cook1, E G Tuddenham.   

Abstract

The HAMSTeRS WWW site was set up in 1996 in order to facilitate easy access to, and aid understanding of, the causes of haemophilia A at the molecular level; previously, the first and second text editions of the database have been published in Nucleic Acids Research. This report describes the facilities originally available at the site and the recent additions which we have made to increase its usefulness to clinicians, the molecular genetics community and structural biologists interested in factor VIII. The database (version 3.0) has been completely updated with easy submission of point mutations, deletions and insertions via e-mail of custom-designed forms. The searching of point mutations in the database has been made simpler and more robust, with a concomitantly expanded real-time bioinformatic analysis of the database. A methods section devoted to mutation detection has been added, highlighting issues such as choice of technique and PCR primer sequences. Finally, a FVIII structure section gives access to 3D VRML (Virtual Reality Modelling Language) files for any user-definable residue in a FVIII A domain homology model based on the crystal structure of human caeruloplasmin, together with secondary structural data and a sound+video animation of the model. It is intended that the general availability of this model will assist both in interpretation of causative mutations and selection of candidate residues forin vitromutagenesis. The HAMSTeRS URL is http://europium.mrc.rpms.ac.uk.

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Year:  1997        PMID: 9016520      PMCID: PMC146401          DOI: 10.1093/nar/25.1.128

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  7 in total

1.  The European Bioinformatics Institute (EBI) databases.

Authors:  P Rodriguez-Tomé; P J Stoehr; G N Cameron; T P Flores
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

2.  Factor VIIIa A2 subunit residues 558-565 represent a factor IXa interactive site.

Authors:  P J Fay; T Beattie; C F Huggins; L M Regan
Journal:  J Biol Chem       Date:  1994-08-12       Impact factor: 5.157

3.  Molecular cloning of a cDNA encoding human antihaemophilic factor.

Authors:  J J Toole; J L Knopf; J M Wozney; L A Sultzman; J L Buecker; D D Pittman; R J Kaufman; E Brown; C Shoemaker; E C Orr
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

4.  The sequence Glu1811-Lys1818 of human blood coagulation factor VIII comprises a binding site for activated factor IX.

Authors:  P J Lenting; J W van de Loo; M J Donath; J A van Mourik; K Mertens
Journal:  J Biol Chem       Date:  1996-01-26       Impact factor: 5.157

Review 5.  Molecular etiology of factor VIII deficiency in hemophilia A.

Authors:  S E Antonarakis; H H Kazazian; E G Tuddenham
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

6.  The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS.

Authors:  A I Wacey; G Kemball-Cook; H H Kazazian; S E Antonarakis; R Schwaab; P Lindley; E G Tuddenham
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

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

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-11-11       Impact factor: 16.971

  7 in total
  5 in total

1.  The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.

Authors:  G Kemball-Cook; E G Tuddenham; A I Wacey
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

2.  The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

Authors:  Amanda B Payne; Connie H Miller; Fiona M Kelly; J Michael Soucie; W Craig Hooper
Journal:  Hum Mutat       Date:  2012-12-26       Impact factor: 4.878

3.  Inversions of the factor VIII gene in Japanese patients with severe hemophilia A.

Authors:  Kazuyoshi Fukuda; Hiroyuki Naka; Shogo Morichika; Masaru Shibata; Ichiro Tanaka; Midori Shima; Akira Yoshioka
Journal:  Int J Hematol       Date:  2004-04       Impact factor: 2.490

4.  A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A.

Authors:  Habib Onsori; Mohammad Ali Hosseinpour Feizi; Abbas Ali Hosseinpour Feizi
Journal:  Iran Red Crescent Med J       Date:  2014-01-05       Impact factor: 0.611

5.  MicroRNA and Hemophilia-A Disease: Bioinformatics Prediction and Experimental Analysis.

Authors:  Halimeh Rezaei; Majid Motovali-Bashi; Seyed Javad Mowla
Journal:  Cell J       Date:  2021-07-17       Impact factor: 2.479

  5 in total

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