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Journal Articles

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction

Reinhard Schneppenheim, Natalie Hellermann, Maria A. Brehm, Ulrike Klemm, Tobias Obser, Volker Huck, Stefan W. Schneider, Cécile V. Denis, Alexander Tischer, Matthew Auton, Winfried März, Emma-Ruoqi Xu, Matthias Wilmanns, Rainer B. Zotz

Blood (2019) 133 (4): 356–365.

https://doi.org/10.1182/blood-2018-04-843425

Published: 2019

Includes: Multimedia, Supplemental data

Journal Articles

Structure and dynamics of the platelet integrin-binding C4 domain of von Willebrand factor

Emma-Ruoqi Xu, Sören von Bülow, Po-Chia Chen, Peter J. Lenting, Katra Kolšek, Camilo Aponte-Santamaría, Bernd Simon, Jaelle Foot, Tobias Obser, Reinhard Schneppenheim, Frauke Gräter, Cécile V. Denis, Matthias Wilmanns, Janosch Hennig

Blood (2019) 133 (4): 366–376.

https://doi.org/10.1182/blood-2018-04-843615

Published: 2019

Includes: Supplemental data

Journal Articles

The Von Willebrand Factor Tyr2561 Allele Is a Gain-of-Function Variant and a Potential Risk Factor for Early Myocardial Infarction

Reinhard Schneppenheim, MD PhD, Natalie Hellermann, MD, Maria Alexandra Brehm, PhD, Ulrike Klemm, PhD, Tobias Obser, Volker Huck, PhD, Stefan W Schneider, Cecile V. Denis, PhD, Alexander Tischer, PhD, Matthew Auton, BSc, PhD, Winfried Maerz, MD, Emma-Ruoqi Xu, PhD, Matthias Wilmanns, PhD, Rainer B. Zotz

Blood (2018) 132 (Supplement 1): 2459.

https://doi.org/10.1182/blood-2018-99-116085

Published: 2018

Journal Articles

von Willebrand factor is dimerized by protein disulfide isomerase

Svenja Lippok, Katra Kolšek, Achim Löf, Dennis Eggert, Willem Vanderlinden, Jochen P. Müller, Gesa König, Tobias Obser, Karoline Röhrs, Sonja Schneppenheim, Ulrich Budde, Carsten Baldauf, Camilo Aponte-Santamaría, Frauke Gräter, Reinhard Schneppenheim, Joachim O. Rädler, Maria A. Brehm

Blood (2016) 127 (9): 1183–1191.

https://doi.org/10.1182/blood-2015-04-641902

Published: 2016

Includes: Multimedia, Supplemental data

Journal Articles

Functional Analysis Of TTP-Associated ADAMTS13 Mutants Under Shear Flow

Maria A. Brehm, PhD, Emma Kraus, B.Sc., Tobias Obser, Reinhard Schneppenheim, MD, PhD

Blood (2013) 122 (21): 1094.

https://doi.org/10.1182/blood.V122.21.1094.1094

Published: 2013

Journal Articles

Characterization of the p.A1461D Mutation Causing Von Willebrand's Disease Type 2B with Severe Thrombocytopenia, Circulating Giant Platelets and Defective α -Granule Secretion

Florian Langer, MD, Tobias Obser, Florian Oyen, Katharina Holstein, MD, Brigitte Spath, Andreas Greinacher, MD, Ulrich Budde, MD, Carsten Bokemeyer, Reinhard Schneppenheim, MD, PhD

Blood (2012) 120 (21): 1074.

https://doi.org/10.1182/blood.V120.21.1074.1074

Published: 2012

Journal Articles

Subcellular Localization of Von Willebrand Factor Mutants Correlates with Particular VWF Multimer Patterns

Maria A. Brehm, PhD, Tobias Obser, Ulrich Budde, MD, Sonja Schneppenheim, MD, Reinhard Schneppenheim, MD, PhD

Blood (2012) 120 (21): 98.

https://doi.org/10.1182/blood.V120.21.98.98

Published: 2012

Journal Articles

Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study

Reinhard Schneppenheim, MD, PhD, Ulrich Budde, MD, Javier Batlle, MD, Giancarlo Castaman, MD, Jeroen C. J. Eikenboom, MD, PhD, Augusto B. Federici, MD, Jenny Goudemand, MD, PhD, Tobias Obser, Florian Oyen, Francesco Rodeghiero, MD, Sonja Schneppenheim, MD, Ian R. Peake, PhD, Anne C. Goodeve, PhD

Blood (2012) 120 (21): 99.

https://doi.org/10.1182/blood.V120.21.99.99

Published: 2012

Journal Articles

A Novel Missense Mutation Asp69Gly in the Platelet Glycoprotein Ib(beta) Gene in Two Families with Bernard-Soulier Syndrome,

Wolf A Hassenpflug, MD, Belinda Weber, Tobias Obser, Ulrich Budde, MD, Reinhard Schneppenheim, MD, PhD

Blood (2011) 118 (21): 3300.

https://doi.org/10.1182/blood.V118.21.3300.3300

Published: 2011

Journal Articles

Reduced Von Willebrand Factor Secretion Is Associated with Loss of Weibel-Palade Formation

Giancarlo Castaman, MD, Sofia Helene Giacomelli, Paula M. Jacobi, BS, Tobias Obser, Reinhard Schneppenheim, MD, PhD, Sandra L Haberichter, PhD

Blood (2010) 116 (21): 541.

https://doi.org/10.1182/blood.V116.21.541.541

Published: 2010

Journal Articles

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

Reinhard Schneppenheim, Jan Jacques Michiels, Tobias Obser, Florian Oyen, Antje Pieconka, Sonja Schneppenheim, Kerstin Will, Barbara Zieger, Ulrich Budde

Blood (2010) 115 (23): 4894–4901.

https://doi.org/10.1182/blood-2009-07-226324

Published: 2010

Journal Articles

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

Sandra L. Haberichter, Ulrich Budde, Tobias Obser, Sonja Schneppenheim, Cornelia Wermes, Reinhard Schneppenheim

Blood (2010) 115 (22): 4580–4587.

https://doi.org/10.1182/blood-2009-09-244327

Published: 2010

Includes: Supplemental data

Journal Articles

Detection of GATA1 Mutation in the Blood of 3 Mothers Giving Birth to Children with Trisomie 21 and TMD.

Hartmut Kabisch, MD, Tobias Obser, Sonja Bartl, Uwe Kordes, Martin Blohm, MD, Reinhard Schneppenheim, MD, PhD

Blood (2009) 114 (22): 4680.

https://doi.org/10.1182/blood.V114.22.4680.4680

Published: 2009

Journal Articles

Force Dependent Structural Changes of the Von Willebrand Factor A2 Domain Are Required for VWF Cleavage by ADAMTS13

Reinhard Schneppenheim, MD, PhD, Carsten Baldauf, PhD, Tobias Obser, Ulrich Budde, MD, Antje Pieconka, Sonja Schneppenheim, MD, Frauke Graeter, PhD

Blood (2008) 112 (11): 589.

https://doi.org/10.1182/blood.V112.11.589.589

Published: 2008

Journal Articles

Molecular Background of “Smeary” von Willebrand Factor Multimers.

Reinhard Schneppenheim, MD, PhD, Olivier Marggraf, Heike Eckert, Tobias Obser, Florian Oyen, Antje Pieconka, Sonja Schneppenheim, MD, Kerstin Will, Ulrich Budde, MD

Blood (2007) 110 (11): 2711.

https://doi.org/10.1182/blood.V110.11.2711.2711

Published: 2007

Journal Articles

Novel Large Deletion Is the Most Frequent Cause of Type 3 von Willebrand Disease in Hungary.

Adrien Mohl, MD, Tamás Masszi, MD, PhD, Eszter Nagy, PhD, Tobias Obser, Florian Oyen, Krisztina Sallai, Imre Bodo, MD, PhD, Reinhard Schneppenheim, MD, PhD

Blood (2006) 108 (11): 1013.

https://doi.org/10.1182/blood.V108.11.1013.1013

Published: 2006

Journal Articles

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis

Wolf Achim Hassenpflug, Ulrich Budde, Tobias Obser, Dorothea Angerhaus, Elke Drewke, Sonja Schneppenheim, Reinhard Schneppenheim

Blood (2006) 107 (6): 2339–2345.

https://doi.org/10.1182/blood-2005-04-1758

Published: 2006

Journal Articles

A Novel Mutation in the von Willebrand Factor Propeptide Causes Defective Regulated Storage in Platelets and Weibel-Palade Bodies.

Sandra L. Haberichter, PhD, Ulrich Budde, MD, Elke Drewke, Tobias Obser, Cornelia Wermes, MD, Reinhard Schneppenheim, M.D, Ph.D

Blood (2005) 106 (11): 1007.

https://doi.org/10.1182/blood.V106.11.1007.1007

Published: 2005

Journal Articles

The Impact of Mutations in the A2 Domain of Von Willebrand Factor on its Cleavage by ADAMTS13.

Wolf A. Hassenpflug, M.D., Ulrich Budde, M.D., Tobias Obser, Dorothea Angerhaus, Elke Drewke, Sonja Schneppenheim, Reinhard Schneppenheim, Ph.D. M.D.

Blood (2004) 104 (11): 3666.

https://doi.org/10.1182/blood.V104.11.3666.3666

Published: 2004

Journal Articles

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP

Reinhard Schneppenheim, Ulrich Budde, Florian Oyen, Dorothea Angerhaus, Volker Aumann, Elke Drewke, Wolf Hassenpflug, Johannes Häberle, Karim Kentouche, Elisabeth Kohne, Karin Kurnik, Dirk Mueller-Wiefel, Tobias Obser, René Santer, Karl-Walter Sykora

Blood (2003) 101 (5): 1845–1850.

https://doi.org/10.1182/blood-2002-08-2399

Published: 2003

NARROW

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction

Structure and dynamics of the platelet integrin-binding C4 domain of von Willebrand factor

The Von Willebrand Factor Tyr2561 Allele Is a Gain-of-Function Variant and a Potential Risk Factor for Early Myocardial Infarction

von Willebrand factor is dimerized by protein disulfide isomerase

Functional Analysis Of TTP-Associated ADAMTS13 Mutants Under Shear Flow

Characterization of the p.A1461D Mutation Causing Von Willebrand's Disease Type 2B with Severe Thrombocytopenia, Circulating Giant Platelets and Defective α -Granule Secretion

Subcellular Localization of Von Willebrand Factor Mutants Correlates with Particular VWF Multimer Patterns

Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study

A Novel Missense Mutation Asp69Gly in the Platelet Glycoprotein Ib(beta) Gene in Two Families with Bernard-Soulier Syndrome,

Reduced Von Willebrand Factor Secretion Is Associated with Loss of Weibel-Palade Formation

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

Detection of GATA1 Mutation in the Blood of 3 Mothers Giving Birth to Children with Trisomie 21 and TMD.

Force Dependent Structural Changes of the Von Willebrand Factor A2 Domain Are Required for VWF Cleavage by ADAMTS13

Molecular Background of “Smeary” von Willebrand Factor Multimers.

Novel Large Deletion Is the Most Frequent Cause of Type 3 von Willebrand Disease in Hungary.

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis

A Novel Mutation in the von Willebrand Factor Propeptide Causes Defective Regulated Storage in Platelets and Weibel-Palade Bodies.

The Impact of Mutations in the A2 Domain of Von Willebrand Factor on its Cleavage by ADAMTS13.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP

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American Society of Hematology

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American Society of Hematology

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