121 Result(s)

Article

In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies

Haemophilia A (HA) is caused by a lack or reduced amount of factor VIII protein (FVIII). About one-third of patients with non-severe HA carrying specific missense mutations show discrepant results between FVII...

Behnaz Pezeshkpoor, M. Gazorpak, A-C. Berkemeier, H. Singer… in Annals of Hematology (2019)

Article

Second-line treatment for metastatic clear cell renal cell cancer: experts’ consensus algorithms

Second-line systemic treatment options for metastatic clear cell renal cell cancer (mccRCC) are diverse and treatment strategies are variable among experts. Our aim was to investigate the approach for the seco...

C. Rothermundt, J. von Rappard, T. Eisen, B. Escudier… in World Journal of Urology (2017)

Article

No increased bleeding risk for oral surgery in patients with severe congenital bleeding disorders due to intense perioperative management

In order to evaluate complication rates of dentoalveolar surgery in patients with congenital bleeding disorders, a retrospective case–control study was performed.

G. Goldmann, C. Berens, N. Marquardt, R. Reich… in Oral and Maxillofacial Surgery (2015)

Article

The coagulation system of extremely preterm infants: influence of perinatal risk factors on coagulation

Little is known about the influence of preterm delivery and perinatal risk factors on development and expression of the coagulation system in extremely preterm infants. The objective of this study was to deter...

C Poralla, C Traut, H-J Hertfelder, J Oldenburg, P Bartmann… in Journal of Perinatology (2012)

Article

Tissue-specific restriction of cyclophilin A-independent HIV-1- and SIV-derived lentiviral vectors

The host factor α isoform of the tripartite motif 5 (TRIM5α) restricts human immunodeficiency virus type 1 (HIV-1) infection in certain non-human primate species. Restriction of HIV-1 is enhanced by binding of...

C A Kahl, P M Cannon, J Oldenburg, A F Tarantal, D B Kohn in Gene Therapy (2008)

Article

Genetik und Klinik der Hämophilie A und B

Die Hämophilie A und B werden durch unterschiedliche Mutationen im Faktor VIII (FVIII)- bzw. Faktor IX (FIX)-Gen verursacht. Entsprechend der Schwere des molekularen Defekts gibt es klinisch unterschiedlich sc...

PD Dr. rer. nat. R. Schwaab, S. Rost, J. Schröder… in medizinische genetik (2008)

Article

Modified expression of coagulation factor VIII by addition of a glycosylation site at the N terminus of the protein

Recently, it was shown that glycoproteins with N-glycans close to the NH₂ terminus can directly enter the calnexin/calreticulin cycle and bypass BiP binding. This should allow efficient secretion of glycoproteins...

M. A. Srour, J. Grupp, Z. Aburubaiha, T. Albert, H. Brondke… in Annals of Hematology (2008)

Chapter and Conference Paper

Species-Specific Variation of VKORC1-Activity and Resistance to Warfarin

A. Fregin, S. Rost, C. R. Müller, J. Oldenburg in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

Expression Analysis of C1-Inhibitor Mutants Confirms Causality of Missense Mutations for Hereditary Angioedema

Recombinant expression of mutated C1INH protein is a useful tool to characterize the role of individual amino acid residues for C1INH activity and hereditary angioedema.

T. Förster, C. R. Müller, J. Oldenburg in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

Simultaneous Bilateral Total Knee Arthroplasty in Hemophilic Arthopathy

This case report demonstrates that, in selected hemophilic patients, simultaneous bilateral knee replacement surgery can be performed with a good outcome without a significant increase in perioperative risk.Th...

H. H. Eickhoff, F. W. Koch, G. Goldmann… in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

On the Molecular Basis of Warfarin Resistance in Rats

M. Hünerberg, S. Rost, A. Fregin, H. J. Pelz… in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

Splice Site Mutations Effect on the F8 mRNA Splicing

This highlights the usefulness of the mRNA analysis for routine diagnosis of such ambiguous cases including the presence of potential cryptic splice sites and clearly demonstrates the causality of the mutation...

O. El-Maarri, C. Klein, J. Junen, J. Schröder… in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

Various Missense Mutations in the Vitamin K Epoxide Reductase Complex Subunit 1 (VKORC1) Cause Hereditary Coumarin Resistance

Mutations in VKORC1 cause coumarin resistance and are also responsible for differing dosing requirements close to the upper therapeutic range. Here we present the data in 16 patients from 14 families revealing...

C. Geisen, S. Rost, G. Spohn, A. Fregin… in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

Molecular Genetic Analysis in Patients with Inherited Factor V Deficiency

Identifying the molecular basis of mutations underlying this rare coagulation disorder will aid to obtain more insight into the mechanisms involved in the variable clinical phenotype of patients with FV defici...

A. Pavlova, D. Delev, E. Seifried, J. Oldenburg in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

Alternative Therapy such as the Acupuncture of the Skull for Hemophilic Arthropathy

T. A. Wallny, H. -H. Brackmann, G. Gunia… in 36^th Hemophilia Symposium Hamburg 2005 (2007)

Chapter and Conference Paper

Expression of the γ-Glutamyl Carboxylase (GGCX) Containing the Arg485Pro Mutation Found in two Unrelated VKCFD1 Patients

S. Rost, A. Fregin, V. Mutucumarana, D. Stafford… in 36^th Hemophilia Symposium Hamburg 2005 (2007)