Literature DB >> 9399839

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

G Kemball-Cook1, E G Tuddenham, A I Wacey.   

Abstract

Since 1996 the HAMSTeRS (Haemophilia A Mutation, Search, Test and Resource Site) WWW site has provided an online resource for access to data on the molecular pathology of haemophilia A, replacing previous text editions of the Haemophilia A Database published in Nucleic Acids Research . This report describes the continued development of the site (version 4), and in particular the expansion of factor VIII (FVIII) structure-related features. Access to the mutation database itself, both for searching the listings and for submission of new mutations, is via custom-designed forms: more powerful Boolean searches of the point mutations in the database are also available. During 1997 a total of 22 novel missense mutations were reported, increasing the total number of unique variants now described to 252 (238 in exonic sequences and 14 at intronic splice junctions). Currently, a total of 586 individual reports with associated phenotypic data are available for searching by any category including phenotype. The FVIII structure section now includes a download of a FVIII A domain homology model in Protein Data Bank format and a multiple alignment of the FVIII amino-acid sequencies from four species (human, murine, porcine and canine) in addition to the virtual reality simulations, secondary structural data and FVIII animation already available. Finally, to aid navigation across this site, a clickable roadmap of the main features provides easy access to the page desired. Our intention is that continued development and updating of the site shall provide workers in the fields of molecular and structural biology with a one-stop resource site to facilitate FVIII research and education. The HAMSTeRS URL is http://europium.mrc.rpms.ac.uk

Entities:  

Mesh:

Substances:

Year:  1998        PMID: 9399839      PMCID: PMC147260          DOI: 10.1093/nar/26.1.216

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


  13 in total

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

Authors:  G Kemball-Cook; E G Tuddenham
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

2.  X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B.

Authors:  H Brandstetter; M Bauer; R Huber; P Lollar; W Bode
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205

3.  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

4.  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

5.  The cDNA and derived amino acid sequence of porcine factor VIII.

Authors:  J F Healey; I M Lubin; P Lollar
Journal:  Blood       Date:  1996-12-01       Impact factor: 22.113

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

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

7.  Sequence of the murine factor VIII cDNA.

Authors:  B Elder; D Lakich; J Gitschier
Journal:  Genomics       Date:  1993-05       Impact factor: 5.736

Review 8.  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

9.  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

10.  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

View more
  41 in total

1.  Mutation analysis of factor VIII in Korean patients with severe hemophilia A.

Authors:  Chur-Woo You; Hee-Sook Son; Hee Jin Kim; Eui-Jeon Woo; Soon-Ae Kim; Haing-Woon Baik
Journal:  Int J Hematol       Date:  2010-06-10       Impact factor: 2.490

2.  Long-term expression of human coagulation factor VIII in a tolerant mouse model using the φC31 integrase system.

Authors:  Christopher L Chavez; Annahita Keravala; Jacqueline N Chu; Alfonso P Farruggio; Vanessa E Cuéllar; Jan Voorberg; Michele P Calos
Journal:  Hum Gene Ther       Date:  2012-01-26       Impact factor: 5.695

3.  Pharmacogenetics and the immunogenicity of protein therapeutics.

Authors:  Chen Yanover; Nisha Jain; Glenn Pierce; Tom E Howard; Zuben E Sauna
Journal:  Nat Biotechnol       Date:  2011-10-13       Impact factor: 54.908

4.  A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.

Authors:  Kevin R Viel; Deepa K Machiah; Diane M Warren; Manana Khachidze; Alfonso Buil; Karl Fernstrom; Juan C Souto; Juan M Peralta; Todd Smith; John Blangero; Sandra Porter; Stephen T Warren; Jordi Fontcuberta; Jose M Soria; W Dana Flanders; Laura Almasy; Tom E Howard
Journal:  Blood       Date:  2007-01-05       Impact factor: 22.113

5.  Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa.

Authors:  Hironao Wakabayashi; Philip J Fay
Journal:  J Biol Chem       Date:  2008-02-25       Impact factor: 5.157

Review 6.  Inhibitors in mild/moderate haemophilia A: two case reports and a literature review.

Authors:  Anna Chiara Giuffrida; Sabrina Genesini; Massimo Franchini; Marzia De Gironcoli; Giuseppe Aprili; Giorgio Gandini
Journal:  Blood Transfus       Date:  2008-07       Impact factor: 3.443

7.  The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion.

Authors:  Jay N Lozier; Amalia Dutra; Evgenia Pak; Nan Zhou; Zhili Zheng; Timothy C Nichols; Dwight A Bellinger; Marjorie Read; Richard A Morgan
Journal:  Proc Natl Acad Sci U S A       Date:  2002-09-19       Impact factor: 11.205

8.  Trp2313-His2315 of factor VIII C2 domain is involved in membrane binding: structure of a complex between the C2 domain and an inhibitor of membrane binding.

Authors:  Zhuo Liu; Lin Lin; Cai Yuan; Gerry A F Nicolaes; Liqing Chen; Edward J Meehan; Bruce Furie; Barbara Furie; Mingdong Huang
Journal:  J Biol Chem       Date:  2010-01-20       Impact factor: 5.157

9.  Domain organization of membrane-bound factor VIII.

Authors:  Svetla Stoilova-McPhie; Gillian C Lynch; Steven Ludtke; B Montgomery Pettitt
Journal:  Biopolymers       Date:  2013-07       Impact factor: 2.505

Review 10.  B-cell and T-cell epitopes in anti-factor VIII immune responses.

Authors:  Kathleen P Pratt; Arthur R Thompson
Journal:  Clin Rev Allergy Immunol       Date:  2009-10       Impact factor: 8.667

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.