A5085294378- Prostate Cancer Treatment and Research
- Sexual Differentiation and Disorders
- Hemoglobin structure and function
- Protein Structure and Dynamics
- Heat shock proteins research
- Antibiotic Resistance in Bacteria
- Hormonal and reproductive studies
- Bacterial biofilms and quorum sensing
- Vibrio bacteria research studies
University of Gdańsk
2020-2023
Institute of Human Genetics
2019
Polish Academy of Sciences
2019
We analyzed three cases of Complete Androgen Insensitivity Syndrome (CAIS) and report hitherto undisclosed causes the disease. RNA-Seq, Real-timePCR, Western immunoblotting, immunohistochemistry were performed with aim characterizing disease-causing variants. In case No.1, we have identified a novel androgen receptor (AR) mutation (c.840delT) within first exon in N-terminal transactivation domain. This thymine deletion resulted frameshift thus introduced premature stop codon at amino acid...