A5052374836- Hearing, Cochlea, Tinnitus, Genetics
- Vitamin K Research Studies
- Hormonal Regulation and Hypertension
- Antioxidant Activity and Oxidative Stress
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Ophthalmology and Visual Impairment Studies
- Prenatal Screening and Diagnostics
- Cell Adhesion Molecules Research
- RNA regulation and disease
- Glaucoma and retinal disorders
- Ear and Head Tumors
- Corneal surgery and disorders
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Vestibular and auditory disorders
- Calcium signaling and nucleotide metabolism
- NF-κB Signaling Pathways
- Risk Perception and Management
Institute of Physiology and Pathology of Hearing
2019-2024
Medical University of Warsaw
2017-2022
Postgraduate School of Molecular Medicine
2017-2022
Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous variant has implicated in development of dominant loss (ADNSHL) a German family. The study presented only, so far known, (c.6881G>A) ADNSHL. It is located last coding exon and introduces premature stop codon (p.Trp2294*).A five-generation Polish family with ADNSHL was recruited (n = 14). Thorough audiological, neurotological imaging...
Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited an autosomal recessive manner. Only two pathogenic have been linked with postlingual progressive dominant HL (ADHL). To determine role ADHL to characterize TBC1D24-related ADHL, clinical exome sequencing or targeted multigene (n = 237) panel were performed for probands 102) from multigenerational families. In four families, was found based on...
Abstract Purpose Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disorder characterized by lipid accumulation and caused UBIAD1 pathogenic variants. encodes vitamin K (VK) biosynthetic enzyme. To assess the vascular VK status in SCD patients, we focused on matrix Gla protein (MGP), VK‐dependent protein. Methods Conformation‐specific immunostainings of different MGP maturation forms were performed sections primary keratocytes from buttons two patients with p.Asp112Asn...
Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in stroma. The aim this study report novel pathogenic variant UBIAD1 gene and present clinical molecular findings Polish patients with SCD. Individuals (n = 37) originating from four SCD families were subjected for complete ophthalmological check-up genetic testing. Corneal changes visualized slit-lamp examination, anterior segment optical coherent tomography (AS-OCT),...
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) is a transmembrane enzyme that plays an essential physiological role in the human body. The most important functions of UBIAD1 include (i) synthesis endogenous vitamin K, (ii) direct and indirect participation cholesterol pathway (iii) non-mitochondrial ubiquinone Q10 (CoQ10), cellular antioxidant [27, 28, 30]. only body known to convert derivatives plant form K1 K2 (MK-4). Mutations gene and/or dysfunction have severe consequences...
<b><i>Background:</i></b> Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form. <b><i>Objective:</i></b> The aim of the study was to unravel genetic cause medical problems a 21-year-old woman, whose phenotypic presentation extended beyond Stickler syndrome and included enlarged vestibular aqueduct (EVA) persistent microhematuria. <b><i>Methods Results:</i></b> After sequencing...
Purpose To genotype the CTG18.1 repeat expansion in TCF4 gene and determine an association between genetic variant Fuchs endothelial corneal dystrophy (FECD) development Polish patients. analyze possible reationship different genotypes clinical picture of Methods Clinical evaluation was based on slit-lamp examination, vivo confocal microscopy (IVCM) anterior segment optical coherence tomography (AS-OCT). Genomic DNA isolated from peripheral blood samples unrelated FECD patients (n = 236)...
Background Genetically determined hearing loss (HL) can be inherited in two major ways - autosomal recessive or dominant. Autosomal dominant (ADHL) is usually postlingual and progressive. To date, 50 different genes have been demonstrated to causally involved its development. In Polish ADHL patients, TBC1D24 pathogenic variants are a frequent cause of the disease. Case report A three-generation family with was recruited for study. An audiological assessment conducted next- generation...