Výsledky vyhledávání

Type I antithrombin deficiency: five novel mutations associated with thrombosis

Autor: Daly M, Dj, Perry, Db, Bruce, Pl, Harper, Robert Tait, Id, Walker, Ee, Mayne, Hm, Daly, Brown K, Rw, Carrell

Publikováno v: Europe PubMed Central

The genetic basis of Type I antithrombin deficiency has been investigated in six unrelated kindred with positive histories of thrombosis using a PCR amplification/direct sequencing approach. Four frameshift mutations, all introducing premature transl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::884ddf4d2bacb9f007d51623569e3607
https://pubmed.ncbi.nlm.nih.gov/8735803

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Heparin binding defect in a new antithrombin III variant: Rouen, 47 Arg to His

Autor: MC Owen, JY Borg, C Soria, J Soria, J Caen, RW Carrell

Publikováno v: Blood. 69:1275-1279

Antithrombin III (AT-III) Rouen is a hereditary abnormal antithrombin with normal progressive inhibitory activity and reduced heparin cofactor activity. It was isolated from the plasma of a woman who suffered a sudden idiopathic sensorineural hearing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::be1cb1e844ff70c96b5a110a15f2a439
https://doi.org/10.1182/blood.v69.5.1275.bloodjournal6951275

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Characterization of antithrombins produced by active site mutagenesis of human alpha 1-antitrypsin expressed in yeast

Autor: H L Gibson, RW Carrell, P Pemberton, IC Bathurst, Peter M. George, S Rosenberg, PJ Barr, RA Hallewell

Publikováno v: Blood. 73(2)

Both congenital and acquired antithrombin-III (AT-III) deficiencies are amenable to replacement therapy. We describe two antithrombins produced by recombinant DNA techniques from human alpha 1-antitrypsin (alpha 1AT) cDNA in yeast. Alteration of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dded9b2eb4534c7e27bfcfbc708a7f5
https://pubmed.ncbi.nlm.nih.gov/2644977

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Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families

Autor: Dj, Perry, Me, Daly, Robert Tait, Id, Walker, Brown K, Nj, Beauchamp, Fe, Preston, Gyde H, Pl, Harper, Rw, Carrell

Publikováno v: Europe PubMed Central

Thirty-one individuals from 18 unrelated families with antithrombin deficiency have been identified as having a single point mutation within codon 384 (13268 GCA--TCA) resulting in an alanine to serine substitution. Six families (11 individuals) were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::61dc70d7b57c68b1598a03b511c87a82
http://europepmc.org/abstract/med/9493570

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Antithrombins Wibble and Wobble (T85M/K): archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation

Autor: Nj, Beauchamp, Rn, Pike, Daly M, Butler L, Makris M, Tim Dafforn, Zhou A, Hl, Fitton, Fe, Preston, Ir, Peake, Rw, Carrell

Publikováno v: Europe PubMed Central

The inherent variability of conformational diseases is demonstrated by two families with different mutations of the same conserved aminoacid in antithrombin. Threonine 85 underlies the opening of the main beta-sheet of the molecule and its replacemen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e45f4f9696f0ade92045fd5c17e641c6
http://europepmc.org/abstract/med/9763552

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