A5019553663- melanin and skin pigmentation
- Ubiquitin and proteasome pathways
- Hearing, Cochlea, Tinnitus, Genetics
- Muscle Physiology and Disorders
- Biochemical Analysis and Sensing Techniques
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Retinal Development and Disorders
- Genetic Neurodegenerative Diseases
- Connexins and lens biology
- Cutaneous lymphoproliferative disorders research
- Skin and Cellular Biology Research
- RNA regulation and disease
- Ear Surgery and Otitis Media
- Genetic and rare skin diseases.
- Retinoids in leukemia and cellular processes
University of Szeged
2019-2024
Hungarian Research Network
2023
Abstract Post-translational modifications of histone proteins play a pivotal role in DNA packaging and regulation genome functions. Histone acetyltransferase 1 (Hat1) are conserved enzymes that modify histones by acetylating lysine residues. Hat1 is implicated chromatin assembly repair but its cell functions not clearly elucidated. We report the generation characterization loss-of-function mutant Drosophila . mutants viable fertile with mild sub-lethal phenotype showing essential fruit...
Albinism is characterized by a variable degree of hypopigmentation affecting the skin and hair, causing ophthalmologic abnormalities. Its oculocutaneous, ocular syndromic forms follow an autosomal or X-linked recessive mode inheritance, 22 disease-causing genes are implicated in their development. Our aim was to clarify genetic background Hungarian albinism cohort. Using 22-gene panel, 11 17 patients elucidated. In with unidentified backgrounds (n = 6), whole exome sequencing performed....
Huntington’s Disease (HD) is a fatal neurodegenerative disorder caused by the expansion of polyglutamine-coding CAG repeat in Huntingtin gene. One main causes neurodegeneration HD transcriptional dysregulation that, part, inhibition histone acetyltransferase (HAT) enzymes. pathology can be alleviated increasing activity specific HATs or inhibiting deacetylase (HDAC) To determine which histone’s post-translational modifications (PTMs) might play crucial roles pathology, we investigated...
Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital nonsyndromic hearing (NSHL) cases are caused by hereditary factors. Previously, NSHL studies focused on GJB2 gene; however, with availability next-generation sequencing (NGS) methods, number novel variants associated has increased. purpose this study was to design effective genetic screening for a Hungarian population based pilot 139 patients. A stepwise, comprehensive approach developed, including...