4.6 Letter

Detection of large duplications within the factor VIII gene by MLPA

期刊

JOURNAL OF THROMBOSIS AND HAEMOSTASIS
卷 6, 期 11, 页码 1996-1999

出版社

WILEY-BLACKWELL
DOI: 10.1111/j.1538-7836.2008.03125.x

关键词

-

向作者/读者索取更多资源

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.6
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Biochemistry & Molecular Biology

Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics

Sara Reda, Jens Muller, Anna Pavlova, Behnaz Pezeshkpoor, Johannes Oldenburg, Bernd Potzsch, Heiko Ruhl

Summary: The study investigated the impact of AT mutations on thrombin inhibition kinetics, finding that patients with AT mutations had significantly prolonged plasma half-life of thrombin. Interestingly, compared with controls, patients with AT mutations had higher AT levels in plasma despite reaching a comparable thrombin half-life.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Hematology

GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients

Suvoshree Ghosh, Katrin Kraus, Arijit Biswas, Jens Mueller, Anna-Lena Buhl, Francesco Forin, Heike Singer, Klara Hoening, Veit Hornung, Matthias Watzka, Katrin J. Czogalla-Nitsche, Johannes Oldenburg

Summary: VKCFD1 is a rare hereditary bleeding disorder caused by mutations in GGCX. This study categorized GGCX mutations into responder and low responder mutations to determine the efficiency of vitamin K supplementation. Most VKCFD1 patients have at least one vitamin K responsive GGCX allele that is able to gamma-carboxylate clotting factors.

JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2021)

Article Hematology

Simoctocog Alfa (Nuwiq) in Previously Untreated Patients with Severe Haemophilia A: Final Results of the NuProtect Study

Ri J. Liesner, Aby Abraham, Carmen Altisent, Mark J. Belletrutti, Manuel Carcao, Manuela Carvalho, Herve Chambost, Anthony K. C. Chan, Leonid Dubey, Jonathan Ducore, Michael Gattens, Paolo Gresele, Yves Gruel, Benoit Guillet, Victor Jimenez-Yuste, Lidija Kitanovski, Anna Klukowska, Sunil Lohade, Maria Elisa Mancuso, Johannes Oldenburg, Anna Pavlova, Berardino Pollio, Marianne Sigaud, Vladimir Vdovin, Kateryna Vilchevska, John K. M. Wu, Martina Jansen, Larisa Belyanskaya, Olaf Walter, Sigurd Knaub, Ellis J. Neufeld

Summary: In the NuProtect study, the rate of inhibitor development in PUPs with severe hemophilia A treated with simoctocog alfa was lower compared to hamster-cell-derived recombinant factor VIII products in recent clinical trials. Furthermore, no inhibitors were observed in PUPs with non-null F8 mutations.

THROMBOSIS AND HAEMOSTASIS (2021)

Article Medicine, General & Internal

Functional and Structural Characterization of Nucleic Acid Ligands That Bind to Activated Coagulation Factor XIII

Nasim Shahidi Hamedani, Arijit Biswas, Oliver Rudan, Rosa Toenges, Carlotta Meyring, Fabian Tolle, Guenter Mayer, Johannes Oldenburg, Jens Mueller, Bernd Poetzsch

Summary: Six DNA aptamers specific for activated FXIII (FXIIIa) were selected, with FA12 capturing FXIIIa efficiently and inhibiting its incorporation with fibrinogen and alpha 2-antiplasmin. Another aptamer, FA2, also showed significant effects in plasma-based thromboelastometry analysis. The structure-function correlations revealed FA12 as a potential candidate for FXIIIa-targeting therapeutic strategies and diagnostic assays.

JOURNAL OF CLINICAL MEDICINE (2021)

Review Medicine, General & Internal

SARS-CoV-2 Infection: Modulator of Pulmonary Embolism Paradigm

Mohammad Suhail Akhter, Hassan A. Hamali, Abdullah A. Mobarki, Hina Rashid, Johannes Oldenburg, Arijit Biswas

Summary: The incidence of PE in COVID-19 patients has significantly increased, possibly due to the viral impact on hypercoagulability. The diagnosis and management of this complication are highly challenging due to overlapping symptoms and a lack of clear predisposing factors.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Hematology

Consensus Recommendations for Intramuscular COVID-19 Vaccination in Patients with Hemophilia

Christian Pfrepper, Katharina Holstein, Christoph Koenigs, Christine Heller, Manuela Krause, Martin Olivieri, Christoph Bidlingmaier, Michael Sigl-Kraetzig, Joerg Wendisch, Susan Halimeh, Silvia Horneff, Heinrich Richter, Ivonne Wieland, Robert Klamroth, Johannes Oldenburg, Andreas Tiede

Summary: Consensus recommendations have been developed for the intramuscular administration of COVID-19 vaccines in hemophilia patients after replacement therapy, depending on disease severity. Factor replacement should be provided before vaccination for patients with moderate or severe hemophilia, while those with mild hemophilia and residual factor activity greater than 10% may not need replacement therapy. Swelling, erythema, and hyperthermia after vaccination should prompt consultation with a hemophilia care center, and patients with injection-site hematomas should receive replacement therapy until symptoms disappear.

HAMOSTASEOLOGIE (2021)

Article Biology

Comprehensive Profiling of Blood Coagulation and Fibrinolysis Marker Reveals Elevated Plasmin-Antiplasmin Complexes in Parkinson's Disease

Amit Sharma, Jens Mueller, Karin Schuetze, Verena Rolfes, Rosi Bissinger, Nathalia Rosero, Ashar Ahmad, Bernardo S. Franklin, Berndt Zur, Holger Froehlich, Florian Lang, Johannes Oldenburg, Bernd Poetzsch, Ullrich Wuellner

Summary: Parkinson's disease (PD) is the second most common age-related neurodegenerative disease, with accumulating evidence suggesting alpha-synuclein's major role in PD pathology. This study found internal variance in erythrocytes of PD patients through Raman spectroscopy, as well elevated levels of plasmin-antiplasmin complexes (PAP) in their plasma. Platelet activation after thrombin stimulation was not altered in PD patients. Sex-specific patterns and alterations in homocysteine levels were also observed.

BIOLOGY-BASEL (2021)

Article Cardiac & Cardiovascular Systems

Spleen Size and Thrombocytopenia After Transcatheter Aortic Valve Implantation

Atsushi Sugiura, Louisa Treiling, Baravan Al-Kassou, Jasmin Shamekhi, Nihal Wilde, Jan-Malte Sinning, Sebastian Zimmer, Daniel Kuetting, Johannes Oldenburg, Bernd Poetzsch, Georg Nickenig, Alexander Sedaghat

Summary: The study found that spleen size is associated with acquired thrombocytopenia after TAVI and correlates with 1-year mortality.

AMERICAN JOURNAL OF CARDIOLOGY (2021)

Article Hematology

Clinical and patient reported outcome in total ankle replacement compared to ankle fusion in end-stage haemophilic arthropathy

Haider Mussawy, Michael Kehrer, Andre Strahl, Tim Rolvien, Jan Hubert, Frank Timo Beil, Dieter Christian Wirtz, Johannes Oldenburg, Katharina Holstein, Andreas Christian Strauss

Summary: Both ankle fusion (AF) and total ankle replacement (TAR) surgeries significantly reduce pain in patients with end-stage hemophilic arthropathy, with TAR associated with a higher risk of deep infection and minimal persistent pain, while AF results in greater pain reduction but carries the risk of non-union and longer post-operative recovery period.

HAEMOPHILIA (2021)

Article Hematology

Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia

David Kranzhoefer, Anna Pavlova, Hendryk Schneider, Peter Franck, Hannah Glonnegger, Martin Buechsel, Ayami Yoshimi-Noellke, Johannes Oldenburg, Barbara Zieger

Summary: This report presents a case of a preterm female newborn with VWD 2B, diagnosed through molecular genetic analysis and blood tests, and successfully treated with VWF-containing plasma concentrate. The patient was discharged at the age of 2 months with stabilized platelet count and no bleeding signs.

HAMOSTASEOLOGIE (2021)

Article Genetics & Heredity

GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients

Suvoshree Ghosh, Katrin Kraus, Arijit Biswas, Jens Mueller, Francesco Forin, Heike Singer, Klara Hoening, Veit Hornung, Matthias Watzka, Johannes Oldenburg, Katrin J. Czogalla-Nitsche

Summary: Research has shown that certain GGCX gene variants causing significantly reduced gamma-carboxylation of Gla-rich protein (GRP) are reported in patients with skin laxity. However, reduced levels of gamma-carboxylated Matrix Gla protein (MGP) are not exclusive for causing skeletal dysmorphologies in VKCFD1 patients.

HUMAN MUTATION (2022)

Review Biochemistry & Molecular Biology

The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes

Suvoshree Ghosh, Johannes Oldenburg, Katrin J. Czogalla-Nitsche

Summary: VKCFD1 is a rare hereditary bleeding disorder caused by mutations in the GGCX gene. In addition to bleeding, patients may develop non-hemorrhagic phenotypes such as skin hyper-laxity, skeletal dysmorphologies, and cardiac defects. Recent studies have found that GGCX mutations affect the gamma-carboxylation of VKD proteins, leading to the development of diverse phenotypes. Mineralization defects are the major manifestation of non-hemorrhagic phenotypes in VKCFD1 patients.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Peripheral Vascular Disease

Activated Factor XI is Increased in Plasma in Response to Surgical Trauma but not to Recombinant Activated FVII-Induced Thrombin Formation

Heiko Ruehl, Anne M. Friemann, Sara Reda, Nadine Schwarz, Franziska Winterhagen, Christina Berens, Jens Mueller, Johannes Oldenburg, Bernd Poetzsch

Summary: In vivo conditions require specific local features for the activation of FXI, including potential cofactors of thrombin present at the wounded site.

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2022)

Article Immunology

NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation

Xiaolong Wu, Amit Sharma, Johannes Oldenburg, Hans Weiher, Markus Essler, Dirk Skowasch, Ingo G. H. Schmidt-Wolf

Summary: CIK cells are a promising candidate for immunotherapy due to their convenient and relatively inexpensive expansion capability. NKG2D plays a crucial role in CIK cell-mediated antitumor activity, with NKG2D engagement alone being sufficient to activate CIK cells. The role of 2B4 in CIK cells is still unclear, but it provides limited synergy with NKG2D in certain aspects. Additional research is needed to optimize the functional potential of CIK cells for cancer therapy.

FRONTIERS IN IMMUNOLOGY (2021)

Article Hematology

Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD

Hamideh Yadegari, Muhammad Ahmer Jamil, Jens Mueller, Natascha Marquardt, Orla Rawley, Ulrich Budde, Osman El-Maarri, David Lillicrap, Johannes Oldenburg

Summary: An in-frame heterozygous large deletion of exons 4 through 34 of the von Willebrand factor (VWF) gene was found in a type 3 von Willebrand disease (VWD) patient, leading to severe bleeding episodes despite treatment. Further analysis revealed defects in VWF multimers and Weibel-Palade bodies (WPBs) in patient's endothelial cells, along with upregulated pro-inflammatory and proangiogenic genes. These findings suggest that the deleted VWF has a negative impact on cellular signaling pathways, phenotype, and function of the endothelial cells.

BLOOD ADVANCES (2022)

暂无数据