Paulina Koszela
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Paulina Koszela has a total of 4 co-authors. Here are the top co-authors by number of shared publications:
- Aleksander F. Sikorski
Research and Development Centre, Regional Specialist Hospital, ul. Kamieńskiego 73a, 51-124, Wrocław, Poland
2 shared publications - Dżamila M. Bogusławska
Department of Biotechnology, Institute of Biological Sciences, University of Zielona Gora, 65-516 Zielona Gora, Poland
2 shared publications - Justyna Rybka
Department and Clinic of Hematology, Cellular Therapies and Internal Medicine, Medical University of Wrocław, 50-367 Wroclaw, Poland
2 shared publications - Kazimierz Kuliczkowski
Silesian Park of Medical Technology Kardio-Med Silesia, ul. M. Curie-Skłodowskiej 10c, 41-800 Zabrze, Poland
2 shared publications
Latest Publications
- Open Access
- 27 January 2025
- Published by MDPI AG in Biomedicines
- Vol. 13 (2) , 308
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis
Background Hereditary spherocytosis (HS) is an erythrocytic membranopathy that belongs to a group of rare genetic disorders. Mutations in five genes, including ANK1, cause clinical manifestations of the disease. Identified variations in individual families provide a better understanding of the molecular basis of the disease. Methods In this study, we used two sequencing methods, whole exome sequencing (WES) and Sanger sequencing, analyzing gDNA and cDNA as templates, to detect and verify the variants putatively responsible for the clinical symptoms observed in a Polish family diagnosed with HS. Results We detected two variants that occur in cis in the ANK1 gene, a known missense mutation (NP_000028.3:p.V463I) and a novel frameshift mutation (NP_000028.3: p.V1626fs*64) that appears to be crucial for the probands. As shown by transcriptome studies, the mutant allele is not present at a detectable level. Conclusions We conclude that the molecular basis of this case is related to an unstable transcript of the mutant allele and that the direct cause of the HS is a deficiency of erythrocyte ankyrin leading to a disruption of the AE1-erythrocyte ankyrin-spectrin complex in the erythrocyte membrane.
- 27 January 2025
- Published by MDPI AG in Biomedicines
- Vol. 13 (2) , 308
Open AccessTwo Variants of the ANK1 Gene Associated with Hereditary Spherocytosis
Background Hereditary spherocytosis (HS) is an erythrocytic membranopathy that belongs to a group of rare genetic disorders. Mutations in five genes, including ANK1, cause clinical manifestations of the disease. Identified variations in individual families provide a better understanding of the molecular basis of the disease. Methods In this study, we used two sequencing methods, whole exome sequencing (WES) and Sanger sequencing, analyzing gDNA and cDNA as templates, to detect and verify the variants putatively responsible for the clinical symptoms observed in a Polish family diagnosed with HS. Results We detected two variants that occur in cis in the ANK1 gene, a known missense mutation (NP_000028.3:p.V463I) and a novel frameshift mutation (NP_000028.3: p.V1626fs*64) that appears to be crucial for the probands. As shown by transcriptome studies, the mutant allele is not present at a detectable level. Conclusions We conclude that the molecular basis of this case is related to an unstable transcript of the mutant allele and that the direct cause of the HS is a deficiency of erythrocyte ankyrin leading to a disruption of the AE1-erythrocyte ankyrin-spectrin complex in the erythrocyte membrane.
- Open Access
- 3 January 2025
- Published by MDPI AG in Preprints.org
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis
Hereditary spherocytosis (HS) is an erythrocytic membranopathy that belongs to a group of rare genetic disorders. Mutations in five genes, including ANK1, cause clinical manifestations of the disease. Identified variations in individual families provide a better understanding of the molecular basis of the disease. In this study, we used two sequencing methods, WES and Sanger sequencing, analyzing gDNA and cDNA as templates, to detect and verify the variants putatively responsible for the clinical symptoms observed in a Polish family diagnosed with hereditary spherocytosis. We detected two variants that occur in cis in the ANK1 gene, a known missense mutation (NP_000028.3:p.V463I) and a novel frameshift mutation (NP_000028.3: p.V1626fs*64) that ap-pears to be crucial for the probands. As shown by transcriptome studies, the mutant allele is not present at a detectable level. We conclude that the molecular basis of this case is related to an un-stable transcript of the mutant allele and that the direct cause of the spherocytosis is a deficiency of erythrocyte ankyrin leading to a disruption of the AE1-erythrocyte ankyrin-spectrin complex in the erythrocyte membrane.
- 3 January 2025
- Published by MDPI AG in Preprints.org
Open AccessTwo Variants of the ANK1 Gene Associated with Hereditary Spherocytosis
Hereditary spherocytosis (HS) is an erythrocytic membranopathy that belongs to a group of rare genetic disorders. Mutations in five genes, including ANK1, cause clinical manifestations of the disease. Identified variations in individual families provide a better understanding of the molecular basis of the disease. In this study, we used two sequencing methods, WES and Sanger sequencing, analyzing gDNA and cDNA as templates, to detect and verify the variants putatively responsible for the clinical symptoms observed in a Polish family diagnosed with hereditary spherocytosis. We detected two variants that occur in cis in the ANK1 gene, a known missense mutation (NP_000028.3:p.V463I) and a novel frameshift mutation (NP_000028.3: p.V1626fs*64) that ap-pears to be crucial for the probands. As shown by transcriptome studies, the mutant allele is not present at a detectable level. We conclude that the molecular basis of this case is related to an un-stable transcript of the mutant allele and that the direct cause of the spherocytosis is a deficiency of erythrocyte ankyrin leading to a disruption of the AE1-erythrocyte ankyrin-spectrin complex in the erythrocyte membrane.