A5005351951- Platelet Disorders and Treatments
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Systemic Lupus Erythematosus Research
- Microtubule and mitosis dynamics
- Monoclonal and Polyclonal Antibodies Research
- Blood groups and transfusion
- Liver Diseases and Immunity
- Liver Disease and Transplantation
- Complement system in diseases
- Cancer Genomics and Diagnostics
- Hepatitis Viruses Studies and Epidemiology
- Retinal Development and Disorders
- Blood properties and coagulation
- Genetic and Kidney Cyst Diseases
- Blood Coagulation and Thrombosis Mechanisms
- Neonatal Respiratory Health Research
- Erythrocyte Function and Pathophysiology
- Neurogenetic and Muscular Disorders Research
- Pregnancy and Medication Impact
- Lysosomal Storage Disorders Research
- Heparin-Induced Thrombocytopenia and Thrombosis
- Chromatin Remodeling and Cancer
- Blood disorders and treatments
- CRISPR and Genetic Engineering
- Innovation, Technology, and Society
Johannes Gutenberg University Mainz
2015-2025
University Medical Center of the Johannes Gutenberg University Mainz
2015-2025
University Hospital and Clinics
2021
University Medical Center
2021
Klinik und Poliklinik für Psychosomatische Medizin und Psychotherapie
2018-2020
University Medical Centre Mannheim
2012
A lipid-protein autoimmunity target Several autoimmune diseases, including systemic lupus erythematosus and primary antiphospholipid syndrome, are characterized by the presence of antibodies (aPLs). These molecules can activate complement coagulation cascades, which contributes to pathologies such as thrombosis, stroke, pregnancy complications. Müller-Calleja et al. found that endothelial protein C receptor (EPCR) in complex with lysobisphosphatidic acid (LBPA) is cell-surface for aPL...
Heme oxygenase-1 (HO-1) confers protection to the vasculature and suppresses inflammatory properties of monocytes macrophages. It is unclear how HO-1 determines extent vascular dysfunction in mice humans. Decreased activity expression was paralleled by increased aortic nicotinamide dinucleotide phosphate oxidase Nox2 deficient Hmox1−/− Hmox1+/− compared with Hmox1+/+ mice. When subjected angiotensin II-infusion, streptozotocin-induced diabetes mellitus aging, showed inversely correlated HO...
Antiphospholipid antibodies (aPL) have been reported to activate platelets. This is considered be one of the pathogenic properties aPL. Even though aPL heterogeneity quite well established, little known, if ability platelets common all or depends on antigen specificity. To further study this issue, we analyzed three human monoclonal with distinctly different antigenic specificities in vitro. The results obtained were validated immunoglobulin G (IgG) fractions from patients antiphospholipid...
Severe plasma prekallikrein (PK) deficiency is an autosomal-recessive defect characterized by isolated activated partial thromboplastin time prolongation. To date, no comprehensive methodologically firm analysis has investigated the diagnostic, clinical, and genetic characteristics of PK deficiency, its prevalence remains unknown.We described new families with retrieved clinical laboratory information cases systematically searched in (gray) literature, collected blood these for complementary...
Abstract Several rapid antigen tests (RATs) for the detection of SARS-CoV-2 were evaluated recently. However, reliable performance data laboratory-based, high-throughput are lacking. Therefore and in response to a short-term shortage PCR reagents, we DiaSorin's LIAISON test comparison RT-qPCR, concerning application screening non-COVID-19 patients on hospital admission. Applying manufacturer-recommended cut-off 200 arbitrary units (AU/mL) specificity Test was 100%, overall analytical...
Immune-mediated thrombotic thrombocytopenic purpura (iTTP), an autoantibody-mediated severe ADAMTS13 deficiency, is caused by insufficient proteolytic processing of von Willebrand factor (VWF) multimers (MMs) and microvascular thrombi. Recurrence acute iTTP associated with persistence or reappearance deficiency. Some patients remain in remission despite recurring persisting In a prospective 2-year observational study, we investigated VWF MM patterns at episodes. Of the 83 iTTP, 16 suffered...
Defects in primary or motile cilia result a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for truncating variant CEP162, centrosome microtubule-associated protein required transition zone assembly during ciliogenesis neuronal differentiation the retina, caused late-onset retinitis pigmentosa 2 unrelated families. The mutant CEP162-E646R*5 was expressed properly localized to mitotic spindle, but it...
Congenital defects of the erythrocyte membrane are common in northern Europe and all over world. The resulting diseases, for example, hereditary spherocytosis (HS), often underdiagnosed, partly due to their sometimes mild asymptomatic courses. In addition a broad clinical spectrum, this is also occasionally complex diagnostics that not available every patient. To test whether next-generation sequencing (NGS) could replace time-consuming spherocytosis-specific functional tests, 22 consecutive...
Interpretation of genetic variants detected by sequencing genomic DNA, which may cause splicing defects, regularly requires mRNA analysis. Usually, only bioinformatic testing is provided, because simple and non-invasive assay protocols are lacking. Furthermore, the detection mis-splicing often hampered nonsense mediated decay (NMD). Starting from a case Pompe disease with two potential an for analysis splice defects in general was developed. We analyzed transcripts gene interest standard...
Abstract Background Hepatitis E virus (HEV) infection is a potential reason for elevated liver enzymes after transplantation (LT). Our aim was to analyze real‐world cohort of LT patients, who underwent biopsy transaminases and suspected acute rejection, evaluate frequency post‐transplant HEV infection. Patients Data from 160 biopsies were analyzed. Seventy‐one patients biopsied on schedule without enzymes. A subgroup 25 with rejection chosen further analysis. Patient demographics data...
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling homology-directed repair (HDR) DNA double-strand breaks. We identified a homozygous MAD2L1BP nonsense variant, R253*, in two siblings with microcephaly, epileptic encephalopathy juvenile granulosa cell tumors ovary testis. Patient-derived cells...
Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities platelet count function. However, damaging variants closely located C-terminal zinc finger domain of nearly unknown. In this study, a 36-year-old male index patient his 4-year-old daughter suffered from moderate mucocutaneous bleeding diathesis since birth. Whole exome sequencing detected novel hemizygous missense variant, c.886A>C p.T296P, between nuclear...
Abstract Background: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder caused by variety of sequence alterations in the CFTR gene [cystic transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)]. Because relative prevalence mutations strongly depends on ethnic background, first-level testing CF as defined recent consensus recommendations ought to be adaptable ethnicity patients. Methods: We therefore developed and implemented diagnostic approach...
A combined digital droplet PCR (ddPCR)/pyrosequencing assay system was developed that demonstrated advantages applicable to multiple qualitative and quantitative molecular genetic diagnostic applications. Data for characterizing this approach hematologic stem cell transplantation (HSCT) allele quantification from graft-derived cell-free (cf) DNA in solid organ (SOT) is presented.ddPCR pyrosequencing assays targeting 32 SNPs/markers were established. ddPCR results 72 gDNAs of 55 patients...
Introduction The protease ADAMTS13 cleaves the high molecular weight and prothrombotic von Willebrand factor (VWF) multimers (MM) secreted by endothelial cells into smaller less thrombotic active multimers. Severe deficiency of ADAMTS13, caused autoantibodies, leads autoimmune thrombocytopenic purpura (iTTP). VWF seems to be only relevant substrate interaction both is determining whether an acute iTTP episode develops or not in particular, infections inflammations seem important factors.