Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Egd Tuddenham"'
Autor:
Egd Tuddenham, Björn Dahlbäck, CV Morse, Eva Norström, Keith Gomez, Mårten Steen, Andrew D Mumford, Phb Bolton-Maggs, Jh Mcvey
Publikováno v:
British Journal of Haematology. 123:496-501
We report a kindred in which two siblings suffered spontaneous venous thromboses in the second decade of life. Further investigation showed reduced coagulation factor V (FV) activity and activated protein C resistance (APCR) ratio but no other thromb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60aeb8b4537923a001d42dc140ec5134
https://doi.org/10.1046/j.1365-2141.2003.04624.x
https://doi.org/10.1046/j.1365-2141.2003.04624.x
Publikováno v:
Journal of Thrombosis and Haemostasis. 1:1487-1494
In mammalian blood coagulation, five proteases (factor VII [FVII]; factor IX [FIX]; factor X [FX]; protein C [PC] and prothrombin [PT]) act with five cofactors (tissue factor [TF]; factor V [FV]; factor VIII [FVIII]; thrombomodulin and protein S) to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab53a2c343bfef8dc6ffa06561b0e62
https://doi.org/10.1046/j.1538-7836.2003.00334.x
https://doi.org/10.1046/j.1538-7836.2003.00334.x
Autor:
Egd Tuddenham, M. R. A. Lalloz, Johannes Oldenburg, Katerina Michaelides, Rainer Schwaab, S. Pemberton, U. Schwaab, Peter Hanfland, Hans-Hermann Brackmann
Publikováno v:
Human Genetics. 101:323-332
Screening of the factor VIII (FVIII) gene which spans 186 kb and codes for 26 exons, was originally hampered by its size but is now feasible because rapid DNA scanning methodologies have been developed. The present study for the first time directly c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfc4266bbfd7544ec9f471d33af3d6ab
https://doi.org/10.1007/s004390050636
https://doi.org/10.1007/s004390050636
Publikováno v:
Scopus-Elsevier
We have studied two heterozygous unrelated CRM- non-Jewish FXI-deficient patients. Neither of the patients carries a previously described mutation. Their FXI genes were screened by SSCP analysis following PCR amplification of each exon and the flanki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402b95dcdd949f8af46990db6c39fa83
https://doi.org/10.1111/j.1365-2141.1995.tb05215.x
https://doi.org/10.1111/j.1365-2141.1995.tb05215.x
Publikováno v:
Pathophysiology of Haemostasis and Thrombosis. 25:89-97
We report a factor VII (FVII) variant, FVIIShinjo, characterized by normal FVII antigen levels and variable procoagulant activity using tissue thromboplastin from different sources. Normal FVII activity is obtained using human placenta thromboplastin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83fa75b350bf76e85b4d69380a5a4142
https://doi.org/10.1159/000217147
https://doi.org/10.1159/000217147
Publikováno v:
Thrombosis and Haemostasis. 73:194-202
SummaryIndividuals with severe factor XI deficiency are prone to excessive bleeding after injury or surgery, but the existence of a haemorrhagic tendency in partial factor XI deficiency is controversial. In this study, 172 members of 30 kindreds (20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d74eb753b3c5184eeb07fa1db60ed4fa
https://doi.org/10.1055/s-0038-1653750
https://doi.org/10.1055/s-0038-1653750
Publikováno v:
Thrombosis and Haemostasis. 71:428-433
SummaryA novel CRM+ mutation, factor VIII position 373 serine to leucine substitution (FVIII 373-Leu) was identified during a survey of Factor VIII (FVIII) mutations. We have purified the variant protein from the patient's plasma in order to allow fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ec17d50ea99378e3b820d7a9dd6b156
https://doi.org/10.1055/s-0038-1642455
https://doi.org/10.1055/s-0038-1642455
Publikováno v:
The Lancet. 338:207-211
The diagnosis of haemophilia A and the identification of carriers has greatly improved with knowledge of the structure of the gene for factor VIII. This has permitted the defect to be tracked in families by the study of restriction fragment length po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad7ddb29e98366d342ed440a144e8f7
https://doi.org/10.1016/0140-6736(91)90348-s
https://doi.org/10.1016/0140-6736(91)90348-s
Autor:
JS Anderson, Egd Tuddenham, John H. McVey, Karen M. Gale, Donogh P. O'Brien, George J. Miller, TW Meade
Publikováno v:
Blood. 78:132-140
Factor VII (FVII) is the plasma serine protease zymogen which, on binding to its cellular receptor tissue factor (TF), initiates blood coagulation. A 47-year-old man with no clinical bleeding tendency was found to have undetectable plasma FVII activi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::647e98e8ed62bbf391969704d0b8b657
https://doi.org/10.1182/blood.v78.1.132.132
https://doi.org/10.1182/blood.v78.1.132.132
Publikováno v:
Scopus-Elsevier
We have used the polymerase chain reaction (PCR) and differential oligonucleotide melting to screen for mutations in selected CpG dinucleotides in the factor VIII genes of haemophilia A patients. By this means we have identified and confirmed by sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567d46ce89a3c7f0930063a5b381b505
https://doi.org/10.1111/j.1365-2141.1990.tb02618.x
https://doi.org/10.1111/j.1365-2141.1990.tb02618.x