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Titolo:
F X Nottingham and F X Taunton two novel mutations in factor X resulting in loss of functional activity and an interpretation using molecular modelling
Autore:
Deam, S; Srinivasan, N; Westby, J; Horn, EH; Dolan, G;
Indirizzi:
Queens Med Ctr, Dept Haematol, Nottingham NG7 2UH, England Queens Med CtrNottingham England NG7 2UH l, Nottingham NG7 2UH, England Queens Med Ctr, Dept Clin Chem, Nottingham NG7 2UH, England Queens Med Ctr Nottingham England NG7 2UH m, Nottingham NG7 2UH, England Indian Inst Sci, Mol Biophys Unit, Bangalore 560012, Karnataka, India Indian Inst Sci Bangalore Karnataka India 560012 560012, Karnataka, India Royal Infirm, Dept Haematol, Edinburgh EH3 9HB, Midlothian, Scotland RoyalInfirm Edinburgh Midlothian Scotland EH3 9HB , Midlothian, Scotland
Titolo Testata:
THROMBOSIS AND HAEMOSTASIS
fascicolo: 2, volume: 85, anno: 2001,
pagine: 265 - 269
SICI:
0340-6245(200102)85:2<265:FXNAFX>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
COAGULATION-FACTOR-X; DATA-BANK; DEFICIENCY; GENE; SUBSTITUTION; PROTEINS; CLONING;
Keywords:
Factor X mutations molecular modelling;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Deam, S Queens Med Ctr, Dept Haematol, Nottingham NG7 2UH, England Queens Med Ctr Nottingham England NG7 2UH ngham NG7 2UH, England
Citazione:
S. Deam et al., "F X Nottingham and F X Taunton two novel mutations in factor X resulting in loss of functional activity and an interpretation using molecular modelling", THROMB HAEM, 85(2), 2001, pp. 265-269

Abstract

We report two novel mutations in the Factor X gene which result in a bleeding tendency in two unrelated Caucasian families. Although the mutations occur at adjacent codons in exon 8 and result in reduced functional activity with normal antigen levels, the patterns of inheritance appear to be quite distinct. Factor X Nottingham (alanine 404 threonine) appears to be associated with an autosomal recessive pattern of inheritance. In contrast, FactorX Taunton (arginine 405 glycine) results in a mode of inheritance consistent with an autosomal dominant pattern, all five of the heterozygotes in this family being clinically affected. Molecular modelling studies suggest that, in the case of Factor X Nottingham, a drastic conformational change causes major unfolding of the protein. For Factor X Taunton, less extreme conformational changes occur causing loss of functional activity such that substrate binding sites might be maintained. It is proposed that competition with wild type for substrate binding could occur leading to a dominant negative effect.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 13:26:10