hemophilia b/tyrosine

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High-efficiency transduction and correction of murine hemophilia B using AAV2 vectors devoid of multiple surface-exposed tyrosines.

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Ingia / Ingia

Elimination of specific surface-exposed single tyrosine (Y) residues substantially improves hepatic gene transfer with adeno-associated virus type 2 (AAV2) vectors. Here, combinations of mutations in the seven potentially relevant Y residues were evaluated for further augmentation of transduction

Characterization of the mutations causing hemophilia B in 2 domestic cats.

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Ingia / Ingia

The purpose of the present study was to determine the normal sequence for the gene encoding factor IX in cats and to characterize the genetic basis for hemophilia B in 2 unrelated male, domestic, mixed-breed cats. Genomic DNA sequence for the entire coding region of the factor IX gene was determined

Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes.

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Ingia / Ingia

Haemophilia B is a X-linked recessive bleeding disorder with an incidence of 1:25,000-30,000 male birth. Usually female carriers are clinically normal. Phenotypic expression of the disease in female carriers is extremely rare. We describe cytogenetically inconspicuous female identical twins both

Posttranslational modifications of recombinant myotube-synthesized human factor IX.

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Ingia / Ingia

Recent data demonstrate that the introduction into skeletal muscle of an adeno-associated viral (AAV) vector expressing blood coagulation factor IX (F.IX) can result in long-term expression of the transgene product and amelioration of the bleeding diathesis in animals with hemophilia B. These data

Minireview: Molecular genetics in affective illness.

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Ingia / Ingia

Genetic transmission in manic depressive illness (MDI) has been explored in twins, adoption, association, and linkage studies. The X-linked transmission hypothesis has been tested by using several markers on chromosome X: Xg blood group, colour blindness, glucose-6-phosphate dehydrogenase (G6PD),

Purification and characterization of an abnormal factor IX (Christmas factor) molecule. Factor IX Chapel Hill.

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Ingia / Ingia

Human Factor IX (Christmas factor) was isolated from the plasma of a patient with mild hemophilia B. The patient's plasma contained 5% Factor IX clotting activity but 100% Factor IX antigenic activity as determined by immunological assays, which included inhibitor neutralization and a

Development of Novel Recombinant AAV Vectors and Strategies for the Potential Gene Therapy of Hemophilia.

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Ingia / Ingia

Recombinant vectors based on a non-pathogenic human parvovirus, the adeno-associated virus (AAV), have gained attention as a potentially safe and useful alternative to the more commonly used retroviral and adenoviral vectors. AAV vectors are currently in use in Phase I/II clinical trials for gene

Improved transduction of primary murine hepatocytes by recombinant adeno-associated virus 2 vectors in vivo.

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Ingia / Ingia

Adeno-associated virus 2 (AAV) vectors are currently in use in Phase I/II clinical trials for gene therapy of cystic fibrosis and hemophilia B. Although 100% of murine hepatocytes can be targeted by AAV vectors, the transgene expression is limited to approximately 5% of hepatocytes. Since the viral

Three novel and one C31133T (Arg-338-->Stop) mutations of antihemophilic factor IX gene detected in Taiwan.

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Ingia / Ingia

BACKGROUND Hemophilia-B is caused by mutation of the coagulation factor IX (F.IX) gene. The gene is about 34 kilobases in length and contains 8 exons ranging from 25 to 548 base pairs. There is no common mutation pattern of this gene in any population as there is in thalassemia. The hope is to

Evaluation of engineered AAV capsids for hepatic factor IX gene transfer in murine and canine models.

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Ingia / Ingia

Adeno-associated virus (AAV) gene therapy vectors have shown the best outcomes in human clinical studies for the treatment of genetic diseases such as hemophilia. However, these pivotal investigations have also identified several challenges. For example, high vector doses are often used for hepatic

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