A5019839842- Corneal surgery and disorders
- Corneal Surgery and Treatments
- Congenital Diaphragmatic Hernia Studies
- Congenital heart defects research
- Renal and related cancers
- Neonatal Respiratory Health Research
- RNA modifications and cancer
- Glaucoma and retinal disorders
- Genomic variations and chromosomal abnormalities
- Fibroblast Growth Factor Research
- Biomarkers in Disease Mechanisms
- Pulmonary Hypertension Research and Treatments
- Ophthalmology and Visual Impairment Studies
- Ocular Surface and Contact Lens
- Chromosomal and Genetic Variations
- Epigenetics and DNA Methylation
- Cancer-related molecular mechanisms research
- Medical Imaging and Pathology Studies
- Prenatal Screening and Diagnostics
- Gut microbiota and health
- Connective tissue disorders research
- MicroRNA in disease regulation
- Congenital Anomalies and Fetal Surgery
- Genetic Syndromes and Imprinting
- Retinal Diseases and Treatments
Poznan University of Medical Sciences
2016-2025
Baylor College of Medicine
2017-2023
Institute of Human Genetics
2011-2022
Polish Academy of Sciences
2011-2022
Abstract Knowing about the antibiotic resistance, serotypes, and virulence-associated genes of Group B Streptococcus for epidemiological vaccine development is very important. We have determined antimicrobial susceptibility patterns, serotype, virulence profiles. The was assessed a total 421 agalactiae strains, isolated from pregnant women neonates. Then, 89 erythromycin and/or clindamycin-resistant strains (82 isolates obtained seven derived neonates) were in detail. PCR techniques used to...
The ocular microbiome composition has only been partially characterized. Here, we used RNA-sequencing (RNA-Seq) data to assess microbial diversity in human corneal tissue. Additionally, conjunctival swab samples were examined characterize surface microbiota. Short RNA-Seq reads, obtained from a previous transcriptome study of 50 tissues, mapped the reference genome GRCh38 remove sequences origin. unmapped reads then for taxonomic classification by comparing them with known bacterial,...
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal developmental disorder lung morphogenesis caused by insufficiency FOXF1 (forkhead box F1) transcription factor function. The cellular and transcriptional mechanisms which deficiency disrupts human formation are unknown.
Keratoconus (KTCN) is a thinning and anterior protrusion of the cornea that results in altered refractive powers loss visual acuity. Despite numerous studies, reasons for development progression KTCN remain unknown. Genetic studies have led to identification several loci linked with KTCN, including locus one multigenerational Ecuadorian family. The purpose this study was identify sequence variants candidate genes segregating phenotype another family.Nonparametric linkage analysis performed...
Purpose: Keratoconus (KTCN) is a degenerative disorder of the eye that results in conical shape and thinning cornea leading cause for corneal transplantations. A number studies suggest genetic factors play role KTCN etiology. Some candidate gene variants have recently been shown to be associated with KTCN. The purpose our study was verify VSX1, TGFBI, DOCK9, IPO5, STK24 sequence Polish patients.Methods: Forty-two patients sporadic 50 control individuals were enrolled into this study. Both...
Abstract Although copy number changes of 5q31 have been rarely reported, deletions associated with some common characteristics, such as short stature, failure to thrive, developmental delay (DD)/intellectual disability (ID), club feet, dislocated hips, and dysmorphic features. We report on three individuals two duplications at 5q31, ranging from 3.6 Mb 8.1 830 kb 3.4 in size, respectively. All five are apparently de novo involve several genes that important pathways, including PITX1, SMAD5 ,...
Purpose: Keratoconus (KTCN) is a degenerative disorder of the eye that characterized by conical shape and thinning cornea, resulting in impaired visual function. Previously, we identified heterozygous single base-pair substitutions DOCK9, IPO5, STK24, showing concurrent 100% segregation with affected phenotype an Ecuadorian family. As pathogenic consequences these variants were not obvious, performed vitro splicing analyses to determine their functional significance. Methods: We generated...
Abstract Myopia, commonly referred to as nearsightedness, is one of the most common causes visual disability throughout world. It affects more people worldwide than any other chronic impairment condition. Although prevalence varies among various ethnic groups, incidence myopia increasing in all populations across globe. Thus, it considered a pressing public health problem. Both genetics and environment play role development myopia. To elucidate epigenetic mechanism(s) underlying...
Keratoconus (KTCN) is a degenerative disorder characterized by stromal thinning and protrusion of the cornea, resulting in severe impairment visual function. A recent study proposed that rare heterozygous mutations ZNF469 determine KTCN aetiology.To investigate contribution to KTCN, we Sanger sequenced 42 unrelated Polish patients with 49 individuals high myopia (HM) compared results whole-exome sequencing (WES) data performed 268 without ocular abnormalities.The average number...
ABSTRACT Lethal lung developmental disorders (LLDDs), histologically classified as alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), congenital (CAD), acinar (AcDys), and primary hypoplasia (PH), are rare diseases associated high neonatal mortality due to refractory respiratory failure. Although ACDMPV mostly results from single nucleotide variants (SNVs) or copy‐number (CNVs) involving FOXF1 , AcDys, CAD, PH often abnormalities within TBX4 FGF10 . These genes...
Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns the lethal developmental lung disease, alveolar capillary dysplasia misalignment pulmonary veins (ACDMPV). Interestingly, ACDMPV-causative deletions, involving FOXF1 or its lung-specific upstream enhancer at 16q24.1, arise almost exclusively on maternally inherited 16. Given phenotypic similarities between upd(16)mat and ACDMPV, together parental allelic bias...
Abstract The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 TBX4 , respectively, are crucial for the regulation of human development. Perturbations these disruptions from biological homeostasis have been associated with abnormal morphogenesis multiple organs, including lung. aim this study was to identify underlying genetic cause lung growth, pulmonary hypertension (PAH), severe microcephaly, muscle spasticity in a full‐term newborn, who died...
Purpose: Keratoconus (KTCN) is a complex eye disorder resulting in loss of visual function. Its development affected by genetic and environmental components. The aim this study was to unravel the role epigenetic factors KTCN. Methods: To verify if DNA methylation may play KTCN development, reduced representation bisulfite sequencing five non-KTCN human corneas performed. Results: Multiple KTCN-specific differentially methylated regions were detected many them overlap previously identified...
Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in loss visual acuity. The etiology KTCN remains unclear. purpose this study was to assess potential involvement new genetic variants based on both genomic transcriptomic findings recognized same corneal tissues.Corneal tissues derived from five unrelated Polish individuals with were examined using exome sequencing (ES), followed by enrichment analyses. For comparison purposes, datasets comprising ES data randomly...
Keratoconus (KTCN) is a progressive eye disease, characterized by changes in the shape and thickness of cornea that results loss visual acuity. While numerous KTCN candidate genes have been identified, genetic etiology disease remains undetermined. To further investigate verify contribution particular factors to KTCN, we assessed 45 previously indicated as involved based on transcriptomic genomic data.The RealTime ready Custom Panel, covering two reference transcripts, has designed. Then,...
Abstract Background The epithelial-mesenchymal signaling involving SHH-FOXF1, TBX4-FGF10, and TBX2 pathways is an essential transcriptional network operating during early lung organogenesis. However, precise regulatory interactions between different genes proteins in this pathway are incompletely understood. Methods To identify TBX4 genome-wide binding sites, we performed chromatin immunoprecipitation followed by next-generation sequencing (ChIP-seq) human fetal fibroblasts IMR-90. Results...