A5045870987- Thyroid Disorders and Treatments
- Congenital heart defects research
- Birth, Development, and Health
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Physiological and biochemical adaptations
- Animal Genetics and Reproduction
- Genetics and Neurodevelopmental Disorders
- Blood properties and coagulation
- Veterinary Medicine and Surgery
- Venous Thromboembolism Diagnosis and Management
- Platelet Disorders and Treatments
- Effects and risks of endocrine disrupting chemicals
- Renal and related cancers
- Antiplatelet Therapy and Cardiovascular Diseases
- Environmental Toxicology and Ecotoxicology
- Regulation of Appetite and Obesity
- RNA Research and Splicing
- Heparin-Induced Thrombocytopenia and Thrombosis
- Reproductive biology and impacts on aquatic species
- Biochemical Analysis and Sensing Techniques
- Toxic Organic Pollutants Impact
- Zebrafish Biomedical Research Applications
- Hypothalamic control of reproductive hormones
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Genetic Syndromes and Imprinting
Charité - Universitätsmedizin Berlin
2017-2025
Freie Universität Berlin
2020-2024
Humboldt-Universität zu Berlin
2002-2024
Université Libre de Bruxelles
2011-2023
Federal Institute for Risk Assessment
2021
Leibniz Institute of Freshwater Ecology and Inland Fisheries
2003-2016
Leibniz Association
2005-2010
Forschungsverbund Berlin
2003
Utrecht University
1994-1999
Wageningen University & Research
1995
The hemodynamics of heart valve prostheses can be reproducibly investigated in vitro within circulatory mock loops. By measuring the downstream velocity and shear stress fields stresses which are clinically responsible for damage to platelets red blood cells determined. mechanisms effects on corpuscles were by Wurzinger et al. at Aerodynamics Institute RWTH Aachen. In present study, above data incorporated into a mathematical correlation, serves as basic model estimation damage. This was...
A Couette viscometer with axial flow is proposed which allows blood to be exposed defined shear stresses of short duration. prototype this tested. By measurements and simple calculations the range application established.
Blood flowing through artificial organs or arterial stenoses is subjected to high shear for short times. To clarify the effects of acting forces upon platelets, heparinized PRP was exposed viscometric flow (57-255 N/m2; 7-700 ms). Before and after exposure beta-TG release, LDH liberation, platelet count, ADP-induced aggregation were assayed. Stypven time-monitored procoagulant activity, determined heparin neutralization by protamine, proved be most sensitive indicator shear-induced...
TSH is the primary physiological regulator of thyroid gland function. The effects on cells are mediated via activation its membrane receptor [TSH (TSHR)]. In this study, we examined functional differentiation in zebrafish and characterized role TSHR signaling during organogenesis. Cloning a cDNA encoding Tshr showed conservation structure properties between mammalian TSHR. situ hybridization confirmed that major site tshr expression development. addition, identified tpo, iyd, duox, duoxa as...
Thyroid hormones (TH) play critical roles during nervous system development and patients carrying coding variants of MCT8 (monocarboxylate transporter 8) or THRA (thyroid hormone receptor alpha) present a spectrum neurological phenotypes resulting from perturbed local TH action early brain development. Recently, human cerebral organoids (hCOs) emerged as powerful in vitro tools for disease modelling recapitulating key aspects cortex To begin exploring prospects this model thyroid research,...
Abstract A eedi recognizedforthedevelopmentandevaluationofbioassaysfordetectionofthyroid s stem–disrupting compounds. The issue of testing for thyroid disruption can be addressed by exploiting amphibian metamorphosis as a biological model. In the present study, test protocol Xenopus assay (XEMA) was developed and its interlaboratory transferability evaluated in an informal ring with six laboratories participating. XEMA test, exposure laevis tadpoles initiated at stages 48 to 50 continued 28...
Amphibian metamorphosis represents a promising model for the identification of thyroid system–disrupting chemicals due to pivotal role played by hormones initiation and regulation metamorphosis. An important aspect bioassay development is evaluation sensitive diagnostic endpoints. In this study, several morphological, histological, molecular endpoints were evaluated their utility detect alterations in system function after exposure stage 51 Xenopus laevis tadpoles various concentrations...
The foregut endoderm gives rise to several organs including liver, pancreas, lung and thyroid with important roles in human physiology. Understanding which genes signalling pathways regulate their development is crucial for understanding developmental disorders as well diseases adulthood. We exploited unique advantages of the zebrafish model develop a rapid scalable CRISPR/Cas-based mutagenesis strategy aiming at identification involved morphogenesis function thyroid. Core elements assay...
Increasing evidence points toward epigenetic variants as a risk factor for developing obesity. We analyzed DNA methylation of the
Platelets were found to be stimulated by high shear exposure for 5 minutes. Using a new technique, stresses up 255 N/m2 , acting pathophysiological relevant intervals of milliseconds did not elicit active release β -TG, beyond the amo
Congenital hypothyroidism caused by thyroid dysgenesis (CHTD) is a common congenital disorder with birth prevalence of 1 case in 4000 live births, and up to 8% individuals CHTD have co-occurring heart disease. Initially we found nine patients cardiac disorders our cohort 158 patients. To enrich for rare phenotype likely be genetically simpler, selected three ventricular septal defect molecular studies. Then, assess whether de novo copy number variants coding mutations candidate genes are...
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the SLC16A2 gene, which encodes thyroid hormone transporter MCT8 (monocarboxylate 8). Previously, we established hiPSC line patient carrying SLC16A2:R401G mutation (BIHi045-A). Using CRISPR/Cas9-mediated gene editing, targeted exon 3 of and used single-stranded oligodeoxynucleotides as homology-directed repair templates to correct R401G missense...
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder characterized by profound psychomotor impairment. It caused mutations in the SLC16A2 gene, which encodes monocarboxylate transporter 8 (MCT8), a crucial thyroid hormone transporter. Here we report generation of two male patient-derived iPSC lines harboring either SLC16A2:G401R or SLC16A2:H192R.
Thyroid hormones regulate cardiac functions mainly through direct actions in the heart and by binding to thyroid hormone receptor (TR) isoforms α1 β. While role of most abundantly expressed isoform, TRα1, is widely studied well characterized, TRβ regulating still poorly understood, primarily due accompanying elevation circulating knockout mice (TRβ-KO). However, their hyperthyroidism ameliorated at thermoneutrality, which allows studying without this confounding factor.
Background: Mutations of monocarboxylate transporter 8 (MCT8), a thyroid hormone (TH)-specific transmembrane transporter, cause severe neurodevelopmental disorder, the Allan-Herndon-Dudley syndrome. In MCT8 deficiency, TH is not able to reach those areas brain where uptake depends on MCT8. Currently, therapeutic options for MCT8-deficient patients are missing, as treatment successful in improving neurological deficits. Available data protein and transcript levels indicate complex expression...