Search Results - "Obser, T."

Shear‐induced unfolding activates von Willebrand factor A2 domain for proteolysis by BALDAUF, C., SCHNEPPENHEIM, R., STACKLIES, W., OBSER, T., PIECONKA, A., SCHNEPPENHEIM, S., BUDDE, U., ZHOU, J., GRÄTER, F.

“…Background: To avoid pathological platelet aggregation by von Willebrand factor (VWF), VWF multimers are regulated in size and reactivity for adhesion by…”
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Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami by Obser, T., Ledford‐Kraemer, M., Oyen, F., Brehm, M. A., Denis, C. V., Marschalek, R., Montgomery, R. R., Sadler, J. E., Schneppenheim, S., Budde, U., Schneppenheim, R.

“…Essentials Von Willebrand disease IIC Miami features high von Willebrand factor (VWF) with reduced function. We aimed to identify and characterize the elusive…”
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Reduced von Willebrand factor secretion is associated with loss of Weibel–Palade body formation by CASTAMAN, G., GIACOMELLI, S. H., JACOBI, P. M., OBSER, T., BUDDE, U., RODEGHIERO, F., SCHNEPPENHEIM, R., HABERICHTER, S. L.

“…Background:  von Willebrand disease (VWD) is caused by mutations in von Willebrand factor (VWF) that have different pathophysiologic effect in causing low…”
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Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype by CASTAMAN, G., GIACOMELLI, S. H., JACOBI, P., OBSER, T., BUDDE, U., RODEGHIERO, F., HABERICHTER, S. L., SCHNEPPENHEIM, R.

“…Background: von Willebrand disease (VWD) type Normandy (VWD 2N) is caused by mutations at the factor (F)VIII‐binding site of von Willebrand factor (VWF),…”
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An Alu‐mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary by MOHL, A., MARSCHALEK, R., MASSZI, T., NAGY, E., OBSER, T., OYEN, F., SALLAI, K., BODÓ, I., SCHNEPPENHEIM, R.

“…Background: We studied 24 Hungarian patients from 23 unrelated families to identify the genetic background of the entire type 3 von Willebrand disease (VWD)…”
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Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM‐1VWD study by EIKENBOOM, J., HILBERT, L, RIBBA, A. S., HOMMAIS, A., HABART, D., MESSENGER, S., AL‐BUHAIRAN, A., GUILLIATT, A., LESTER, W., MAZURIER, C., MEYER, D., FRESSINAUD, E., BUDDE, U., WILL, K., SCHNEPPENHEIM, R., OBSER, T., MARGGRAF, O., ECKERT, E., CASTAMAN, G., RODEGHIERO, F., FEDERICI, A. B., BATLLE, J., GOUDEMAND, J., INGERSLEV, J., LETHAGEN, S., HILL, F., PEAKE, I., GOODEVE, A.

“…Background: Candidate von Willebrand factor (VWF) mutations were identified in 70% of index cases in the European study ‘Molecular and Clinical Markers for the…”
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Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient by Enayat, M. S., Ravanbod, S., Rassoulzadegan, M., Jazebi, M., Ala, F., Budde, U., Schneppenheim, S., Obser, T., Schneppenheim, R.

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Gene conversions are a common cause of von Willebrand disease by Gupta, P. K., Adamtziki, E., Budde, U., Jaiprakash, M., Kumar, H., Harbeck‐Seu, A., Kannan, M., Oyen, F., Obser, T., Wedekind, I., Saxena, R., Schneppenheim, R.

“…Summary von Willebrand disease (VWD), the most common inherited bleeding disorder, is very heterogeneous, both in its phenotype and genotype. One particular…”
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Genetic defects in von Willebrand disease type 3 in Indian and Greek patients by Gupta, P.K., Saxena, R., Adamtziki, E., Budde, U., Oyen, F., Obser, T., Schneppenheim, R.

“…Von Willebrand disease type 3 VWD is an autosomal-recessively inherited severe bleeding disorder with a homogeneous phenotype on the basis of very…”
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Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population by MOHL, A., BODA, Z., JAGER, R., LOSONCZY, H., MAROSI, A., MASSZI, T., NAGY, E., NEMES, L., OBSER, T., OYEN, F., RADVÁNYI, G., SCHLAMMADINGER, Á., SZÉLESSY, ZS, VÁRKONYI, A., VEZENDY, K., VILIMI, B., SCHNEPPENHEIM, R., BODÓ, I.

“…Background: Type 3 von Willebrand disease (VWD) is an autosomal recessive bleeding disorder, characterized by virtually undetectable plasma von Willebrand…”
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The problem of novel FVIII missense mutations for haemophilia A genetic counseling by Schneppenheim, Reinhard, Schröder, J, Obser, T, Oyen, F, Schneppenheim, S, Oldenburg, J

“…Molecular genetic testing for factor VIII (FVIII) mutations is indicated in haemophilia A since determination of FVIII activity cannot reliably identify female…”
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Response to DDAVP in children with von Willebrand disease type 2 by Schneppenheim, Reinhard, Budde, U, Beutel, Karin, Hassenpflug, W-A, Hauch, H, Obser, T, Oyen, F, Schneppenheim, S, Schrum, J

“…We have prospectively evaluated the biologic response to desmopressin (DDAVP) in 28 children with type 2 von Willebrand disease (VWD) in correlation with the…”
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OC-10: Plasmatic von Willebrand factor encapsulates blood circulating melanoma cells to prevent their hematogenous metastasis by Wang, Y., Liu, X., Obser, T., Bauer, A.T., Kusche-Gullberg, M., Schneider, S.W., Gorzelanny, C.

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P061 Type 3 von Willebrand disease in Hungary: A partial large deletion is the most common genetic defect by Mohl, A, Boda, Z, Jager, R, Losonczy, H, Marosi, A, Masszi, T, Nagy, E, Nemes, L, Obser, T, Oyen, F, Radványi, G, Sallai, K, Schlammadinger, Á, Szélessy, Zs, Vezendy, K, Schneppenheim, R, Bodó, I

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The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population by Rischewski, J, Bismarck, P, Kabisch, H, Janka-Schaub, G, Obser, T, Schneppenheim, R

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Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus by Jonat, Susanne, Santer, René, Schneppenheim, Reinhard, Obser, Tobias, Eggert, Paul

“…The case of an 8 year old boy with both nocturnal enuresis and nephrogenic diabetes insipidus is presented. Diagnosis of nephrogenic diabetes insipidus was…”
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TEMPORARY REMOVAL: OC-10: Plasmatic von Willebrand factor encapsulates blood circulating melanoma cells to prevent their hematogenous metastasis by Wang, Y, Liu, X, Obser, T, Bauer, A T, Kusche-Gullberg, M, Schneider, S W, Gorzelanny, C

“…The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the…”
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von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor by Brehm, M A, Huck, V, Aponte-Santamaría, C, Obser, T, Grässle, S, Oyen, F, Budde, U, Schneppenheim, S, Baldauf, C, Gräter, F, Schneider, S W, Schneppenheim, R

“…The bleeding disorder von Willebrand disease (VWD) is caused by mutations of von Willebrand factor (VWF), a multimeric glycoprotein essential for…”
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von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP by SCHNEPPENHEIM, Reinhard, BUDDE, Ulrich, KURNIK, Karin, MUELLER-WIEFEL, Dirk, OBSER, Tobias, SANTER, René, SYKORA, Karl-Walter, OYEN, Florian, ANGERHAUS, Dorothea, AUMANN, Volker, DREWKE, Elke, HASSENPFLUG, Wolf, HÄBERLE, Johannes, KENTOUCHE, Karim, KOHNE, Elisabeth

“…Thrombotic thrombocytopenic purpura (TTP) is caused by the persistence of the highly reactive high-molecular-weight multimers of von Willebrand factor (VWF)…”
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Severe ADAMTS-13 deficiency in childhood by Schneppenheim, Reinhard, Budde, Ulrich, Hassenpflug, Wolf, Obser, Tobias

“…Thrombotic thrombocytopenic purpura (TTP) is a rare microangiopathic disorder with high morbidity and significant mortality. The primary form of TTP is caused…”
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