Max Aub, Obras completas, vols IX-A, IX-B, X

بررسی موتاسیون‌های ناحیه پروموتوری ژن فاکتور IX در هموفیلی B

  چکید ه   سابقه و هدف   هموفیلی B لیدن یک بیماری خونریزی دهنده ارثی است که با بیان تغییر یافته فاکتور IX شرح داده می شود. این شکل از هموفیلی در ارتباط با موتاسیون‌های نقطه‌ای متنوع در محدوده‌ای 40 نوکلئوتیدی از ناحیه پروموتوری ژن فاکتور IX رخ می‌دهد. بیماران کلاسیک هموفیلی B لیدن دارای سطح فاکتور IX پلاسمایی Units/ml 1/0(کمتر از 15%) در دوران قبل از بلوغ هستند اما متعاقب بلوغ، سطح فاکتور IX در...

Haemophilia B (Factor IX Deficiency)

If a woman is a carrier there is a 1 in 2 chance that any son will be affected and a 1 in 2 chance that any daughter will be a carrier. If a man with the disease fathers a child, any daughter will be a carrier and any son will be unaffected and will not carry the gene. There is a report of a daughter of a man with the disease who had a factor IX level of 5% and haemarthroses and this was though...

Circulating factor IX antigen-inhibitor complexes in hemophilia B- following infusion of a factor IX concentrate.

A persistent low-titer factor IX Inhibitor was discovered in a patIent with severe hemophllia B. The Inhibitor was very likely an immunoglobulin, since it was present in serum, was not dialyzable, retained its potency after heating to 56#{176}C, and was bound by staphylococcal protein A (SPA). When the hemophilia B patient with the inhibItor was given therapeutic infusions of factor Ix concentr...

Coagulation Factor IX for Hemophilia B Therapy


Factor IX is a zymogen enzyme of the blood coagulation cascade. Inherited absence or deficit of the IX functional factor causes bleeding disorder hemophilia B, which requires constant protein replacement therapy. Reviewed herein are the current state in the manufacturing of FIX, improved variants of the recombinant protein for therapy, transgenic organisms for obtaining FIX, and the advances in...

IX. Biomechanics