Zobrazeno 1 - 10
of 49
pro vyhledávání: '"S O Brennan"'
Autor:
Karl H. Weisgraber, Stanley C. Rall, Mark R. Wardell, S O Brennan, E R Nye, P M George, E D Janus
Publikováno v:
Journal of Lipid Research, Vol 31, Iss 3, Pp 535-543 (1990)
Homozygosity for the apolipoprotein (apo) E variant apoE2(158 Arg----Cys) invariably gives rise to dysbetalipoproteinemia, and when associated with obesity or a gene for hyperlipidemia, results in type III hyperlipoproteinemia. The association of the
Publikováno v:
Clinical and laboratory haematology. 23(6)
This is the second reported example of Hb Pierre--Benite (beta90 Glu--Asp). This mutation is associated with increased oxygen affinity and polycythaemia. No instability was found and there was no charge shift detected by cellulose acetate electrophor
Publikováno v:
Thrombosis and haemostasis. 85(3)
We investigated the molecular basis of hypofibrinogenemia in a woman with a plasma fibrinogen of 1.0 mg/mL. After sequencing the coding region and intronic boundaries of all three fibrinogen genes a single heterozygous GAC--TAC mutation was identifie
Publikováno v:
Thrombosis and haemostasis. 85(3)
Human fibrin has a low affinity thrombin binding site in its E domain and a high affinity binding site in the carboxy-terminal region of its variant gamma' chain (gamma'408-427). Comparison of the gamma' amino acid sequence (VRPEHPAETEYDSLYPEDDL) wit
Publikováno v:
Thrombosis and haemostasis. 84(3)
We investigated the molecular basis of hypofibrinogenaemia in a woman with a history of recurrent, pregnancy-associated bleeding, and miscarriage. She had a Clauss fibrinogen of 0.9 mg/ml and SDS PAGE of purified fibrinogen showed a normal pattern of
Publikováno v:
Blood. 96(2)
The molecular basis of a novel congenital afibrinogenemia has been determined. The proposita, the only affected member in a consanguineous Norwegian family, suffers from a moderate to severe bleeding disorder due to the total absence of any detectabl
Publikováno v:
The American journal of pathology. 157(1)
The proposita suffered from liver cirrhosis and biopsy showed type 1 membrane-bound fiberglass inclusions. The hepatic inclusion bodies were weakly periodic acid-Schiff diastase-positive, and on immunoperoxidase staining reacted specifically with ant
Publikováno v:
Blood. 95(5)
We investigated the molecular basis of hypofibrinogenemia in a man with a normal thrombin clotting time. Protein analysis indicated equal plasma expression of 2 different Bbeta alleles, and DNA sequencing confirmed heterozygosity for a new Bbeta235 P
Publikováno v:
British journal of haematology. 108(2)
A woman with menorrhagia was investigated for a suspected fibrinogen mutation when coagulation tests revealed prolonged thrombin (55 s) and reptilase (43 s) times together with a functional and an antigenic fibrinogen concentration of 0.7 and 2.8 mg/
Autor:
S O, Brennan
Publikováno v:
Clinical chemistry. 44(11)
Both normal albumin (Al A) and genetically modified forms were isolated from six heterozygous subjects. Albumins from each individual were analyzed by electrospray ionization mass spectrometry (ESI MS), and the mass was compared with that predicted f