A5047956031- Neonatal Respiratory Health Research
- Cystic Fibrosis Research Advances
- Genetic and Kidney Cyst Diseases
- Respiratory Support and Mechanisms
- Tracheal and airway disorders
- Protist diversity and phylogeny
- Adolescent and Pediatric Healthcare
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Immune Response and Inflammation
- Medical Imaging and Pathology Studies
- Congenital Diaphragmatic Hernia Studies
- Assisted Reproductive Technology and Twin Pregnancy
- Salivary Gland Tumors Diagnosis and Treatment
- Craniofacial Disorders and Treatments
- Genomics and Rare Diseases
- Microtubule and mitosis dynamics
- Otolaryngology and Infectious Diseases
- Genetics and Neurodevelopmental Disorders
- Congenital Heart Disease Studies
University Hospital Münster
2020-2025
Klinik und Poliklinik für Kinder- und Jugendmedizin
2022-2023
Ludwig-Maximilians-Universität München
2016-2022
Axonemal protein complexes, such as outer (ODA) and inner (IDA) dynein arms, are responsible for the generation regulation of flagellar ciliary beating. Studies in various ciliated model organisms have shown that axonemal arms first assembled cell cytoplasm then delivered into axonemes during ciliogenesis. In humans, mutations genes encoding factors involved this process cause structural functional defects motile cilia organs airways result hereditary disorder primary dyskinesia (PCD)....
Abstract Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of monophosphate (AMP) diphosphate (ADP) on is not fully understood. Here, we describe a deficiency cilia flagella associated protein 45 ( CFAP45 ) in humans mice that presents motile ciliopathy featuring situs inversus totalis asthenospermia. CFAP45-deficient show normal morphology axonemal ultrastructure. Proteomic profiling links to an module including...
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by insufficient mucociliary clearance leading to chronic airway infections. The diagnostic guideline of the European Respiratory Society (ERS) primarily recommends evaluation clinical history (e. g. PICADAR prediction tool), nasal nitric oxide (nNO) production rate measurements, high-speed videomicroscopy analysis (HSVMA) beating, and assessment axonemes via transmission electron microscopy (TEM). Genetic testing...
Rationale: Primary ciliary dyskinesia (PCD) is a heterogeneous, multisystem disorder characterized by defective beating. Diagnostic guidelines of the American Thoracic Society and European Respiratory recommend measurement nasal nitric oxide (nNO) for PCD diagnosis. Several studies demonstrated low nNO production rates in individuals, but underlying causes remain elusive. Objectives: To determine well-characterized cohort, including subgroup analyses with regard to ultrastructural beating...
Background: Nearly one in 100 live births presents with congenital heart defects (CHD). CHD is frequently associated laterality defects, such as situs inversus , a mirrored positioning of internal organs. Body established by complex process: monocilia at the embryonic left-right organizer facilitate both generation and sensing leftward fluid flow. This induces conserved left-sided Nodal signaling cascade to initiate asymmetrical organogenesis. Primary ciliary dyskinesia originates from...
Bronchopulmonary dysplasia (BPD), characterized by impaired alveolarization and vascularization in association with lung inflammation apoptosis, often occurs after mechanical ventilation oxygen-rich gas (MV-O2). As heightened expression of the proinflammatory cytokine TNF-α has been described infants BPD, we hypothesized that absence would reduce pulmonary inflammation, attenuate structural changes newborn mice undergoing MV-O2 Neonatal null (TNF-α(-/-)) wild type (TNF-α(+/+)) received for 8...
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by insufficient mucociliary clearance leading to chronic airway infections. The diagnostic guideline of the European Respiratory Society (ERS) primarily recommends evaluation clinical history (e. g. PICADAR prediction tool), nasal nitric oxide (nNO) production rate measurements, high-speed videomicroscopy analysis (HSVMA) beating, and assessment axonemes
Abstract The hyperoxia-induced pro-inflammatory response and tissue damage constitute pivotal steps leading to bronchopulmonary dysplasia (BPD) in the immature lung. cytokines are considered attractive candidates for a directed intervention but complex interplay between inflammatory developmental signaling pathways requires comprehensive evaluation before introduction into clinical trials as studied here death inducing ligand TRAIL. At birth during prolonged exposure oxygen mechanical...
<b>Introduction:</b> Primary ciliary dyskinesia (PCD) is a heterogeneous, multisystem disorder characterized by dysfunctional motile cilia. Diagnostic approaches of the American Thoracic (ATS) and European Respiratory Society (ERS) include nasal nitric oxide (nNO) measurement, transmission electron microscopy, evaluation beating genetic analyses for PCD diagnosis. <b>Methods:</b> All included subjects were evaluated according to ERS diagnostic guidelines. individuals categorized in subgroups...
Hintergrund Die Differentialdiagnosen des Stridors sind vielfältig. Hilfreiche Einteilungen und Unterscheidungsmerkmale daher unter anderem akutes Auftreten vs. chronisches Bestehen, das Alter Kindes, die in- und/oder exspiratorische Komponente als Hinweis der Lokalisation Engstelle.
Challenges in diagnosing PCD include the underrecognition of disease, broad spectrum clinical airway disease and still ongoing identification causing genes. <i>CFAP74</i> encodes for a central pair associated protein. mutations were recently published as cause multiple morphological abnormalities sperm flagella (MMAF), but respiratory cilia not investigated. The aim our study was to establish whether PCD. PCD-candidate patients screened <i>CFAP74</i>-mutations. Additionally diagnostic workup...
Einleitung Die PCD ist eine seltene genetische Erkrankung deren respiratorischer Phänotyp langfristig durch destruktive, bronchiektasenbildende Lungenerkrankung charakterisiert ist. Mutationen in CFAP74 (Cilia and Flagella Associated Protein 74) wurden kürzlich als Ursache für MMAF (multiple morphological abnormalities of sperm flagella) bei zwei unfruchtbaren Männern veröffentlicht. Respiratorische Zilien nicht untersucht, so dass CFAP74, welches ein central pair (CP)-assoziiertes kodiert,...