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Antithrombin Glasgow II: alanine 382 to threonine mutation in the serpin P12 position, resulting in a substrate reaction with thrombin

Autor: Helen Ireland, J. M. Freyssinet, David A. Lane, R J Olds, Howard R. Morris, L. Grunebaum, E. Thompson, S. L. Thein, I. D. Walker, I Blench

Publikováno v: British Journal of Haematology. 79:70-74

A female with recurrent thrombosis was found to have a functional abnormality of antithrombin, with a ratio of functional to immunological activity in plasma of approximately 50%. Crossed immunoelectrophoresis in the presence of heparin was normal, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e5acc2423bcebcc84ec7c0ddfdc2562
https://doi.org/10.1111/j.1365-2141.1991.tb08009.x

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Antithrombin Vicenza, Ala 384 to Pro (GCA to CCA) mutation, transforming the inhibitor into a substrate

Autor: R. Caso, D. A. Lane, E. A. Thompson, R. J. Olds, S. L. Thein, M. Panico, I. Blench, H. R. Morris, J. M. Freyssinet, M. Aiach, F. Rodeghiero and, G. Finazzi

Publikováno v: British Journal of Haematology. 77:87-92

Antithrombin (AT) Vicenza has been previously identified as a functionally abnormal antithrombin associated with familial thrombosis (Finazzi et al, 1985). It binds normally to heparin, but loses its affinity following interaction with thrombin: it i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b896ab3c2e6b231a2c1d972508b01916
https://doi.org/10.1111/j.1365-2141.1991.tb07953.x

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A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis

Autor: R J, Olds, D A, Lane, G, Finazzi, T, Barbui, S L, Thein

Publikováno v: Blood. 76:2182-2186

Type 1 antithrombin III (ATIII) deficiency, which is the commonest form of inherited ATIII defect, is characterized by a quantitative reduction in both immunologically and functionally detectable protein. This condition is associated with a high inci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875aacfcf179c9b17c08e0d81f0066f9
https://doi.org/10.1182/blood.v76.11.2182.bloodjournal76112182

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Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency

Autor: A C, Fitches, K, Lewandowski, R J, Olds

Publikováno v: Thrombosis and haemostasis. 86(4)

We report the identification of a new mutation resulting in type I antithrombin (AT) deficiency and the mechanism by which the deficiency arose. The single base substitution of G to A at nucleotide 2709 was identified in a proband with a family histo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::241cf738c0ae6f5e0620f4539d903b6f
https://pubmed.ncbi.nlm.nih.gov/11686319

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Familial overexpression of beta antithrombin caused by an Asn135Thr substitution

Autor: T A, Bayston, A, Tripodi, P M, Mannucci, E, Thompson, H, Ireland, A C, Fitches, L, Hananeia, R J, Olds, D A, Lane

Publikováno v: Blood. 93(12)

We have investigated the basis of antithrombin deficiency in an asymptomatic individual (and family) with borderline levels (approximately 70% antigen and activity) of antithrombin. Direct sequencing of amplified DNA showed a mutation in codon 135, A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a8c8b54e50836a541d1a2cf3bdd4b3e8
https://pubmed.ncbi.nlm.nih.gov/10361121

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Impaired cotranslational processing as a mechanism for type I antithrombin deficiency

Autor: A C, Fitches, R, Appleby, D A, Lane, V, De Stefano, G, Leone, R J, Olds

Publikováno v: Blood. 92(12)

Most secretory proteins, including antithrombin (AT), are synthesized with a signal peptide, which is cleaved before the mature protein is exported from the cell. The signal peptide is important in the process whereby nascent protein is recognized as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3f8421be4b0b71e26a032d4e2bfa1c1c
https://pubmed.ncbi.nlm.nih.gov/9845533

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High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population

Autor: Rury R. Holman, M S Hammersley, Andrew T. Hattersley, Yuk Ming Dennis Lo, B A Barrow, P. J. Saker, M. D. Gillmer, R. J. Olds, J. A. S. McLellan, R. C. Turner

Publikováno v: Diabetologia. 39(11)

A high proportion of the female patients who are members of maturity onset diabetes of the young (MODY) pedigrees, and whose diabetes mellitus is due to a glucokinase mutation, originally presented with gestational diabetes. To establish whether gluc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d0bb43eb8146ad33ac63c1f59d5d5fc
https://pubmed.ncbi.nlm.nih.gov/8932999

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