Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow Print PDF (165K) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (133)
Right arrowRequest Permissions
Right arrow Commercial Re-use Guidelines
for Open Access NAR Content
Google Scholar
Right arrow Articles by Kemball-Cook, G.
Right arrow Articles by Wacey, A. I.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kemball-Cook, G.
Right arrow Articles by Wacey, A. I.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nucleic Acids Research, Vol 26, Issue 1 216-219, Copyright © 1998 by Oxford University Press

ARTICLES

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

G Kemball-Cook, EGD Tuddenham and AI Wacey
Haemostasis Research Group, MRC Clinical Sciences Centre, Imperial College Medical School, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK. gkemball@hgmp.mrc.ac.uk

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
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Biol. Chem.Home page
I. Jagannathan, H. T. Ichikawa, T. Kruger, and P. J. Fay
Identification of Residues in the 558-Loop of Factor VIIIa A2 Subunit That Interact with Factor IXa
J. Biol. Chem., November 20, 2009; 284(47): 32248 - 32255.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
M. Pinotti, D. Balestra, L. Rizzotto, I. Maestri, F. Pagani, and F. Bernardi
Rescue of coagulation factor VII function by the U1+5A snRNA
Blood, June 18, 2009; 113(25): 6461 - 6464.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
J. L. Newell and P. J. Fay
Cleavage at Arg-1689 Influences Heavy Chain Cleavages during Thrombin-catalyzed Activation of Factor VIII
J. Biol. Chem., April 24, 2009; 284(17): 11080 - 11089.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
K. R. Viel, A. Ameri, T. C. Abshire, R. V. Iyer, R. G. Watts, C. Lutcher, C. Channell, S. A. Cole, K. M. Fernstrom, S. Nakaya, et al.
Inhibitors of Factor VIII in Black Patients with Hemophilia
N. Engl. J. Med., April 16, 2009; 360(16): 1618 - 1627.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
H. Wakabayashi, F. Varfaj, J. DeAngelis, and P. J. Fay
Generation of enhanced stability factor VIII variants by replacement of charged residues at the A2 domain interface
Blood, October 1, 2008; 112(7): 2761 - 2769.
[Abstract] [Full Text] [PDF]

Home page
 haematolHome page
M. Margaglione, G. Castaman, M. Morfini, A. Rocino, E. Santagostino, G. Tagariello, A. R. Tagliaferri, E. Zanon, M. P. Bicocchi, G. Castaldo, et al.
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype
Haematologica, May 1, 2008; 93(5): 722 - 728.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
H. Wakabayashi and P. J. Fay
Identification of Residues Contributing to A2 Domain-dependent Structural Stability in Factor VIII and Factor VIIIa
J. Biol. Chem., April 25, 2008; 283(17): 11645 - 11651.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
M. Pinotti, L. Rizzotto, D. Balestra, M. A. Lewandowska, N. Cavallari, G. Marchetti, F. Bernardi, and F. Pagani
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency
Blood, March 1, 2008; 111(5): 2681 - 2684.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
A. D. Laurie, M. P. Smith, and P. M. George
Detection of Factor VIII Gene Mutations by High-Resolution Melting Analysis
Clin. Chem., December 1, 2007; 53(12): 2211 - 2214.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
K. R. Viel, D. K. Machiah, D. M. Warren, M. Khachidze, A. Buil, K. Fernstrom, J. C. Souto, J. M. Peralta, T. Smith, J. Blangero, et al.
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels
Blood, May 1, 2007; 109(9): 3713 - 3724.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
O. El-Maarri, H. Singer, C. Klein, M. Watzka, U. Herbiniaux, H. H. Brackmann, J. Schroder, J. Graw, C. R. Muller, W. Schramm, et al.
Lack of F8 mRNA: a novel mechanism leading to hemophilia A
Blood, April 1, 2006; 107(7): 2759 - 2765.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
K. Nogami, Q. Zhou, H. Wakabayashi, and P. J. Fay
Thrombin-catalyzed activation of factor VIII with His substituted for Arg372 at the P1 site
Blood, June 1, 2005; 105(11): 4362 - 4368.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
R. Toso and R. M. Camire
Removal of B-domain Sequences from Factor V Rather than Specific Proteolysis Underlies the Mechanism by Which Cofactor Function Is Realized
J. Biol. Chem., May 14, 2004; 279(20): 21643 - 21650.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
W. W. H. Wu and R. S. Molday
Defective Discoidin Domain Structure, Subunit Assembly, and Endoplasmic Reticulum Processing of Retinoschisin are Primary Mechanisms Responsible for X-linked Retinoschisis
J. Biol. Chem., July 18, 2003; 278(30): 28139 - 28146.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
J. N. Lozier, A. Dutra, E. Pak, N. Zhou, Z. Zheng, T. C. Nichols, D. A. Bellinger, M. Read, and R. A. Morgan
The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion
PNAS, October 1, 2002; 99(20): 12991 - 12996.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
S. Valleix, C. Vinciguerra, J.-M. Lavergne, M. Leuer, M. Delpech, and C. Negrier
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A
Blood, September 26, 2002; 100(8): 3034 - 3036.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
P. V. Jenkins, J. Freas, K. M. Schmidt, Q. Zhou, and P. J. Fay
Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex
Blood, June 28, 2002; 100(2): 501 - 508.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
S. Stoilova-McPhie, B. O. Villoutreix, K. Mertens, G. Kemball-Cook, and A. Holzenburg
3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography
Blood, February 15, 2002; 99(4): 1215 - 1223.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
S. W. Pipe, E. L. Saenko, A. N. Eickhorst, G. Kemball-Cook, and R. J. Kaufman
Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa
Blood, February 1, 2001; 97(3): 685 - 691.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
J. Oldenburg, S. Rost, O. El-Maarri, M. Leuer, K. Olek, C. R. Muller, and R. Schwaab
De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism
Blood, October 15, 2000; 96(8): 2905 - 2906.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
R. Asselta, S. Duga, T. Simonic, M. Malcovati, E. Santagostino, P. L. F. Giangrande, P. M. Mannucci, and M. L. Tenchini
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation
Blood, October 1, 2000; 96(7): 2496 - 2500.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
M.-L. Liu, B. W. Shen, S. Nakaya, K. P. Pratt, K. Fujikawa, E. W. Davie, B. L. Stoddard, and A. R. Thompson
Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure
Blood, August 1, 2000; 96(3): 979 - 987.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
S. S. Stoylova, P. J. Lenting, G. Kemball-Cook, and A. Holzenburg
Electron Crystallography of Human Blood Coagulation Factor VIII Bound to Phospholipid Monolayers
J. Biol. Chem., December 17, 1999; 274(51): 36573 - 36578.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.