A5084992613- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Genetic and Kidney Cyst Diseases
- Tracheal and airway disorders
- Advanced biosensing and bioanalysis techniques
- Respiratory viral infections research
- Protist diversity and phylogeny
- Biomedical Text Mining and Ontologies
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Childhood Cancer Survivors' Quality of Life
- Microtubule and mitosis dynamics
- RNA modifications and cancer
- Infant Nutrition and Health
- Viral Infections and Immunology Research
- Advanced Text Analysis Techniques
- Topic Modeling
- Child Nutrition and Feeding Issues
- Genetic Syndromes and Imprinting
Institute of Human Genetics
2012-2025
Polish Academy of Sciences
2012-2025
International Institute of Molecular and Cell Biology
2012
University Hospital Münster
2012
Primary ciliary dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron microscopy (TEM) as one of combination tests to confirm diagnosis. However, there no definition what constitutes defect or consensus on reporting terminology. The aim this project was provide an internationally agreed ultrastructural classification for PCD diagnosis by TEM. A guideline developed experts representing 18 centres in 14...
Abstract RPGR gene encodes retinitis pigmentosa guanosine triphosphatase regulator protein, mutations of which cause 70% the X‐linked (XLRP) cases. Rarely, can also primary ciliary dyskinesia (PCD), a multisystem disorder characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis, and male subfertility. Two patients with PCD_RP their relatives were analyzed using DNA sequencing, transmission electron microscopy (TEM), immunofluorescence (IF), photometry, high‐speed...
OFD1 is a protein involved in many cellular processes, including cilia biogenesis, mitotic spindle assembly, translation, autophagy and the repair of double-strand DNA breaks. Despite potential interactors identified high-throughput studies, only few have been directly confirmed with their binding sites identified. We performed an analysis evolutionary conservation sequence three clades: 80 Tetrapoda, 144 Vertebrata or 26 Animalia species, 59 protein-binding motifs localized regions...
Primary ciliary dyskinesia (PCD) is a rare (1/20,000), multisystem disease with complex phenotype caused by the impaired motility of cilia/flagella, usually related to ultrastructural defects these organelles. Mutations in genes encoding radial spoke head (RSPH) proteins, elements ultrastructure, have been recently described. However, relative involvement RSPH PCD pathogenesis remained unknown, due small number families examined for mutations genes. The purpose this study was estimate RSPH4A...
Background Primary ciliary dyskinesia (PCD) is a motile ciliopathy, whose symptoms include airway infections, male infertility and situs inversus . Apart from the typical forms of PCD, rare syndromic PCD exist. Mutations X-linked OFD1 gene cause several ciliopathies, including oral-facial-digital syndrome type 1, Joubert 10 (JBTS10), Simpson-Golabi-Behmel 2, latter causing form PCD. Neurological skeletal are characteristic for these syndromes, with their severity depending on location...
Translational readthrough of premature termination codons (PTCs) induced by pharmacological compounds has proven to be an effective way restoring functional protein expression and reducing symptoms in several genetic disorders. We tested the potential different concentrations aminoglycosides (AAGs) for promoting PTC-readthrough 5 genes involved pathogenesis primary ciliary dyskinesia, inherited disorder caused dysfunction motile cilia flagella. The efficiency stimulation PTCs cloned dual...
Abstract Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of large offline gold-standard benchmark documents that cover variety research fields such newly search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we established RElevant LIterature SearcH consortium consisting more than 1500 scientists from 84 countries, who collectively annotated...
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous hereditary disease from class of ciliopathies. In spite the recent progress, genetic basis PCD in one-third patients remains unknown. search for new genes and/or mutations, whole-exome sequencing was performed 120 unrelated Polish with PCD, whom no cause earlier identified. Among number pathogenic variants genes, mutations CFAP300 (alias C11orf70) were detected. Extended screening whole cohort revealed relatively high...
Primary ciliary dyskinesia (PCD) is a rare disease with autosomal recessive inheritance, caused mostly by bi-allelic gene mutations that impair motile cilia structure and function. Currently, there are no causal treatments for PCD. In many models, translational readthrough of premature termination codons (PTC-readthrough) induced aminoglycosides has been proposed as an effective way restoring functional protein expression reducing symptoms. However, variable outcomes pre-clinical trials...
Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, otitis media, infertility and abnormal situs. 'Better Experimental Approaches to Treat Ciliary Dyskinesia' (BEAT-PCD) network of scientists clinicians coordinating research from basic science through clinical care with the intention developing treatments diagnostics lead improved long-term outcomes for patients. BEAT-PCD activities are supported by EU...
Primary cultures of the human airway epithelium (AE) cells are an indispensable tool in studies pathophysiology genetic and environmental pulmonary diseases, including cystic fibrosis (CF), primary ciliary dyskinesia (PCD) chronic obstructive disease (COPD). Air-liquid interface (ALI) culture is best method to follow differentiation ciliated cells, whose dysfunction forms basis PCD. Here, we used custom-designed Taqman Low Density Array (TLDA), qRT-PCR-based assay, analyze expression 14 AE...
Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that usually recessively inherited and has marked clinical phenotypic heterogeneity. Classic symptoms include neonatal respiratory distress, rhinitis since early childhood, otitis media, recurrent airway infections leading to bronchiectasis, sinusitis, laterality defects with without congenital heart including abnormal situs in approximately 50% of the cases, male infertility. Lung function deteriorates progressively...
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron microscopy as one of combination tests to confirm diagnosis. However, there no definition what constitutes defect or consensus on reporting terminology. The aim this project was provide an internationally agreed ultrastructural classification for PCD diagnosis by microscopy. A guideline developed experts representing 18 centres in 13...
In recent years, questionnaires were published in English to assess the quality of life patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13–17 and children 6–12 years their caregivers. This study aimed prepare Polish versions validate them specific age groups participation PCD. The individual translated discussed involvement creator original questionnaire English. Patients completed according affiliation one groups. Validation was based on internal consistency...