A5014328967- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Ion Transport and Channel Regulation
- Inhalation and Respiratory Drug Delivery
- Congenital Ear and Nasal Anomalies
- Pediatric health and respiratory diseases
- Tracheal and airway disorders
- Hepatitis C virus research
- Asthma and respiratory diseases
- Ion channel regulation and function
- Advanced biosensing and bioanalysis techniques
- MicroRNA in disease regulation
- Advanced Chemical Sensor Technologies
- Molecular Biology Techniques and Applications
- Infant Nutrition and Health
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Animal Genetics and Reproduction
- Monoclonal and Polyclonal Antibodies Research
- Liver Disease Diagnosis and Treatment
- Effects and risks of endocrine disrupting chemicals
- Respiratory viral infections research
- Respiratory Support and Mechanisms
Medizinische Hochschule Hannover
2015-2024
German Center for Lung Research
2014-2024
Heidelberg University
2014
Heidelberg University
2014
University Hospital Heidelberg
2014
University of Freiburg
2014
University of North Carolina at Chapel Hill
2014
Zentrum für Kinderheilkunde
2013
Society of Paediatric Oncology and Haematology
2007
Gesellschaft für Klinische Forschung
2007
Pseudomonas aeruginosa PAO1 is the most commonly used strain for research on this ubiquitous and metabolically versatile opportunistic pathogen. Strain PAO1, a derivative of original Australian PAO isolate, has been distributed worldwide to laboratories collections. Over decades discordant phenotypes sublines have emerged. Taking existing PAO1-UW genome sequence (named after University Washington, which led sequencing project) as blueprint, sequences reference strains MPAO1 PAO1-DSM (stored...
We investigated whether mutations in the genes that code for different subunits of amiloride-sensitive epithelial sodium channel (ENaC) might result cystic fibrosis (CF)-like disease. In a small fraction patients, disease could be potentially explained by an ENaC mutation Mendelian mechanism, such as p.V114I and p.F61L SCNN1A. More importantly, more than three-fold significant increase incidence several rare polymorphisms was found patient group (30% vs. 9% controls), indicating involvement...
<h3>Background</h3> The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in gastrointestinal and respiratory tract epithelia, has not been employed so far to support role CF modifier genes. <h3>Methods</h3> Patients were selected from 101 families with a total 171 F508del-CFTR homozygous patients identify modifying A candidate gene based association study 52 genes on 16 different chromosomes 182 genetic markers was performed. Differences haplotype...
Background: Defects in expression, maturation or function of the epithelial membrane glycoprotein CFTR are causative for progressive disease cystic fibrosis. Recently, molecular therapeutics that improve and functional defects have been approved. We aimed to verify whether we could detect an improvement protein expression by triple therapy with elexacaftor-tezacaftor-ivacaftor (ELX/TEZ/IVA). Methods: Rectal suction biopsies 21 p.Phe508del homozygous compound heterozygous CF patients obtained...
The three-base-pair deletion c.1521_1523delCTT (p.Phe508del, F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) is most frequent disease-causing lesion (CF). CFTR gene encodes a chloride and bicarbonate channel at apical membrane of epithelial cells. Altered ion transport CFTR-expressing epithelia can be used to differentiate manifestations so-called CF basic defect. Recently, an 11p13 region has been described as modifier by North American Genetic Modifier Study...
Background Nasal potential difference (NPD) and intestinal current measurements (ICM) are cystic fibrosis transmembrane conductance regulator (CFTR) biomarkers recommended to make a diagnosis in individuals with inconclusive sweat test CFTR genetics clinical suspicion for (CF) or CFTR-related disorder (CFTR-RD). Methods NPD ICM were measured according standard operating procedures of the European Cystic Fibrosis Society Diagnostic Network Working Group. Results We assessed 219 by who had...
<h3>Background:</h3> Knowledge of how <i>CFTR</i> mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to low incidence homozygous index cases. <h3>Methods:</h3> 17 individuals who are for deletions, missense, stop or splice site gene were investigated clinical symptoms CF and assessed CFTR function by sweat test, nasal potential difference intestinal current measurement. <h3>Results:</h3> activity gland, upper airways distal intestine was normal...
Abstract Background From the original Cftr TgH ( neoim ) Hgu mutant mouse model with a divergent genetic background (129P2, C57BL/6, MF1) we have generated two inbred strains named CF/1- and CF/3- , which are fertile show normal growth lifespan. Initial genome wide scan analysis microsatellite markers indicated that differed on level. In order to further investigate whether these differences an impact disease phenotype of cystic fibrosis characterised strains. Results Reduced amounts,...
<i>Background:</i> Classic infection models in rodents use lethal doses of bacteria as inocula, thus creating which are rarely comparable to the clinical situation. Moreover, single time-point evaluation requires killing animals, necessitating large numbers animals. Longitudinal parameters such temperature appear have a relatively low accuracy. Spirometry might be an accurate method assess course bacterial lung without necessity sacrifice <i>Objectives:</i> We...
F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic fibrosis (CF) patients, has been characterised as a mutant defective in protein folding, processing and trafficking. We have investigated two neighbouring cytokeratin genes KRT8 KRT18 candidate gene approach to ask whether variants and/or modify impaired ion conductance known CF basic defect, they are associated with correct trafficking of CFTR disease severity CF. selected contrasting F508del-CFTR homozygous...
A major boost to the cystic fibrosis disease research was given by generation of various mouse models using gene targeting in embryonal stem cells. Moreover, introduction same mutation on different inbred strains generating congenic facilitated search for modifier genes. From original CftrTgH(neoim)Hgu CF model we have generated strict brother x sister mating two lines (CF/1 and CF/3). Thereafter, insertional introgressed from CF/3 into three backgrounds (C57BL/6, BALB/c, DBA/2J) animals. In...