Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Haemophilia B is a recessive, X-linked bleeding disorder due to inherited deficiency in vitamin K-dependent coagulation factor IX (FIX).
|
31180618 |
2019 |
Blood Coagulation Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Although patients with severe hemophilia (i.e., with FVIII:C and FIX:C levels <1IU/dL) are generally those with the most severe bleeding phenotype, it is common experience that a variable proportion of them experiences a milder bleeding tendency.
|
28599169 |
2017 |
Blood Coagulation Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Correction of the hemophilic coagulopathy by sustained expression of FIX, reduction of bleeding events, and a comprehensive assessment of the humoral and cell-mediated immune responses to the expressed transgene and recombinant AAV vector are all feasible end points in these dogs.
|
25675273 |
2015 |
Blood Coagulation Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
This resulted in sustained supraphysiologic FIX activity (400%), correction of the bleeding diathesis at clinically relevant, low vector doses (5 × 10(10) vector genomes [vg]/kg) that are considered safe in patients undergoing gene therapy.
|
24637359 |
2014 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The immune response against therapeutic clotting factors VIII and IX (FVIII and FIX) is a major adverse event that can effectively thwart their effectiveness in correcting bleeding disorders.
|
24762281 |
2014 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Approximately 6-39% of the platelets expressed FIX in the transduced recipients, which was sufficient to rescue the bleeding diathesis in FIX(null) mice in tail clipping models.
|
24042561 |
2014 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Hemophilia A and B are rare inherited bleeding disorders characterized by the deficiency of coagulation factor VIII (FVIII) or factor IX (FIX).
|
24911674 |
2014 |
Blood Coagulation Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Intraperitoneal delivery of AAV8/ Factor IX (hF.IX) during weeks 1-4 of life, over a 20-fold dose range, directed stable hF.IX expression, correction of coagulopathy in F.IX-null hemophilia B mice, and induction of tolerance to hF.IX; however, only primary injection at 1-2 days of life enabled increasing AAV8-mediated hF.IX expression after re-administration, due to the absence of anti-viral capsid antibodies.
|
23759700 |
2013 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The X-linked bleeding disorder hemophilia is caused by mutations in coagulation factor VIII (hemophilia A) or factor IX (hemophilia B).
|
22137432 |
2012 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Hemophilia B is a hereditary bleeding disorder from the deficiency of factor IX (FIX) activity.
|
20305539 |
2010 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Defective FIX protein resulting from mutation in the corresponding gene causes an X-linked bleeding disorder known as haemophilia B.
|
18540896 |
2008 |
Blood Coagulation Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The observed bleeding tendency is related to this--compared to the other vitamin K dependent factors (FII, FVII, FX)--excessively and disproportionately low level of FIX.
|
18293119 |
2008 |
Blood Coagulation Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Adeno-associated viral (AAV) gene transfer of coagulation factor IX to skeletal muscle and liver of murine and canine models of hemophilia has resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.
|
17266422 |
2007 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Different kinds of mutations, mostly point mutations, in the coagulation factor IX (FIX) gene F9 result in a recessive X-linked bleeding disorder known as haemophilia B.
|
17014892 |
2007 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Immune responses to the factor IX (F.IX) transgene product are a concern in gene therapy for the X-linked bleeding disorder hemophilia B.
|
17594244 |
2007 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in Factor IX gene (F9) cause X-linked recessive bleeding disorder hemophilia B.
|
17397055 |
2007 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deficiency or dysfunction of factor IX FIX leads to haemophilia B (HB), an X-linked, recessive, bleeding disorder.
|
16643212 |
2006 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Administration of only 1 x 10(10) scAAV particles led to expression of hFIX at supraphysiologic levels (8I U/mL) and correction of the bleeding diathesis in FIX knock-out mice.
|
16322469 |
2006 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Haemophilia B is an inherited bleeding disorder associated with a deficiency of coagulation factor IX.
|
16086639 |
2005 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms.
|
15138162 |
2004 |
Blood Coagulation Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In further studies using the Chapel Hill strain of hemophilia B dogs, we demonstrate for the first time FIX expression and partial correction of the bleeding disorder following i.v. administration of an AAV vector.
|
14712305 |
2004 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterogeneous mutations in the coagulation factor IX (FIX) gene result in a bleeding tendency known as haemophilia B.
|
12588353 |
2003 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deficiencies of coagulation factors (other than factor VIII and factor IX) that cause a bleeding disorder are inherited as autosomal recessive traits and are generally rare, with prevalences in the general population varying between 1 : 500 000 and 1 : 2 000 000.
|
12010428 |
2002 |
Blood Coagulation Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Hemophilia is the bleeding diathesis caused by mutations in the gene encoding factor VIII (hemophilia A) or factor IX (hemophilia B).
|
12463593 |
2002 |
Blood Coagulation Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Furthermore, when a linear human factor IX expression cassette was delivered to factor IX-deficient mice, sustained serum concentrations of more than 4 microg/ml (80% of normal) of the human clotting factor and correction of the bleeding diathesis were obtained.
|
11273783 |
2001 |