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Information of the project and the call

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Unsolved issues in molecular basis of primary ciliary dyskinesia (PCD), a motile ciliopathy - identification of large genomic deletions and transcript isoforms

2018/31/B/NZ2/03248

Keywords:

motile cilia ciliome transcriptome profiling isoforms PCD mutations

Descriptors:

  • NZ2_2:
  • NZ5_5:
  • NZ3_14:

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Instytut Genetyki Człowieka PAN

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Ewa Maria Ziętkiewicz 

Number of co-investigators in the project: 10

Call: OPUS 16 - announced on 2018-09-14

Amount awarded: 1 765 780 PLN

Project start date (Y-m-d): 2019-07-16

Project end date (Y-m-d): 2024-07-15

Project duration:: 60 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Information in the final report

  • Publication in academic press/journals (7)
  • Articles in post-conference publications (7)
  • Book publications / chapters in book publications (2)
  1. Systematic Comparison of Temperature Effects on Antibody Performance via Automated Image Analysis: A Key for Primary Ciliary Dyskinesia Diagnostic
    Authors:
    Przystalowska-Maciola H, Dabrowska M. Zietkiewicz E. Bukowy-Bieryłło Z.
    Academic press:
    Cells (rok: 2025, tom: 14(16), strony: 1236-1251), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/cells14161236 - link to the publication
  2. In vitro differentiation of ciliated cells in ALI-cultured human airway epithelium – The framework for functional studies on airway differentiation in ciliopathies
    Authors:
    Bukowy-Bieryłło Z, Daca- Roszak P, Jurczak J, Przystałowska-Macioła H, Jaksik R, Witt M, Ziętkiewicz E.
    Academic press:
    European Journal of Cell Biology (rok: 2022, tom: 101, strony: 151189), Wydawca: Elsevier GmbH
    Status:
    Published
    DOI:
    10.1016/j.ejcb.2021.1511 - link to the publication
  3. A novel pathogenic variant of CFAP221 is a cause of a mild form of primary ciliary dyskinesia
    Authors:
    Alicja Rabiasz, Zuzanna Bukowy-Bieryłło, Patrycja Kaźmierczak, Hanna Przystałowska-Macioła, Marcin Mikoś, Irena Wojsyk-Banaszak, Ewa Ziętkiewicz
    Academic press:
    BBA - Molecular Basis of Disease (rok: 2025, tom: 1871/6, strony: 46031), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.bbadis.2025.167855 - link to the publication
  4. The lack of homozygotes with a large deletion encompassing SPAG1 and POLR2K in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein
    Authors:
    Alicja Rabiasz, Monika Drobna-Śledzińska, Patrycja Kaźmierczak, Michał Witt, Ewa Ziętkiewicz
    Academic press:
    Genes and Diseases (rok: 2025, tom: 12, strony: 46026), Wydawca: Elsevier B.V. on behalf of KeAi
    Status:
    Published
    DOI:
    10.1016/j.gendis.2025.101535 - link to the publication
  5. Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies
    Authors:
    John A. Sayer, Heymut Omran, Ewa Zietkiewicz
    Academic press:
    Frontiers in Molecular Biosciences (rok: 2025, tom: 12, strony: 46025), Wydawca: Frontiers Media SA; edited by Matteo Becatti
    Status:
    Published
    DOI:
    10.3389/fmolb.2025.1753098 - link to the publication
  6. Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations
    Authors:
    Johanna Raidt, Sarah Riepenhausen, Petra Pennekamp, Heike Olbrich, Israel Amirav, Rodrigo A Athanazio, Micha Aviram, Juan E Balinotti, Ophir Bar-On, Sebastian FN Bode, Mieke Boon, Melissa Borrelli, Siobhan B Carr, Suzanne Crowley, Eleonora Dehlink, Sandra Diepenhorst Peter Durdik, Bernd Dworniczak, Nagehan Emiralioğlu, Ela Erdem, Rossella Fonnesu, Serena Gracci Jörg Große-Onnebrink, Karolina Gwozdziewicz Eric G Haarman3, Christine R Hansen, Claire Hogg, Mathias G Holgersen, Eitan Kerem, Robert W Körner, Karsten Kötz, Panayiotis Kouis, Michael R Loebinger, Natalie Lorent, Jane S Lucas, Debora Maj17, Marcus A Mall, June K Marthin, Vendula Martinu, Henryk Mazurek, Hannah M Mitchison, Tabea Nöthe-Menchen, Ugur Özçelik, Massimo Pifferi, Andrzej Pogorzelski, Felix C Ringshausen, Jobst F Roehmel, Sandra Rovira-Amigo, Nisreen Rumman, Anne Schlegtendal, Amelia Shoemark, Synne Sperstad Kennelly, Ben O Staar, Sivagurunathan Sutharsan, Simon Thomas, Nicola Ullmann, Julian Varghese, Sandra von Hardenberg, Woolf T Walker, Martin Wetzke, Michal Witt, Panayiotis Yiallouros, Anna Zschocke, Ewa Ziętkiewicz, Kim G Nielsen, Heymut Omran
    Academic press:
    European Respiratory Journal (rok: 2024, tom: 64:2301769, strony: 46036), Wydawca: European Respiratory Society
    Status:
    Published
    DOI:
    10.1183/13993003.01769-2023 - link to the publication
  7. Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies.
    Authors:
    Rabiasz A, Ziętkiewicz E
    Academic press:
    Int J Mol Sci (rok: 2023, tom: 24, strony: 4472-4496), Wydawca: MDPI, Basel, Switzerland
    Status:
    Published
    DOI:
    10.3390/ijms24054472 - link to the publication
  1. The genomic deletion encompassing important parts of POLR2K and SPAG1: detrimental effect of the loss of POLR2K function explains the lack of SPAG1-del homozygotes among primary ciliary dyskinesia patients (#90)
    Authors:
    A. Rabiasz, M. Drobna-Śledzińska, E. Ziętkiewicz
    Conference:
    5th European Cilia Conference (rok: 2022, ), Wydawca: EMBO
    Data:
    konferencja 4-7.10.2022
    Status:
    Published
  2. Functional studies on in vitro differentiation of airway epithelium in ALI culture as a tool for modeling ciliopathies
    Authors:
    J. JURCZAK, Z. BUKOWY-BIERYŁŁO, H. PRZYSTAŁOWSKA-MACIOŁA, P.DACA-ROSZAK, R. JAKSIK2, M. WITT, E. ZIĘTKIEWICZ
    Conference:
    Polski Kongres Genetyki (rok: 2022, ), Wydawca: PTG, PTGCz
    Data:
    konferencja 2022-6-27-30
    Status:
    Published
  3. Using SPEF2 antibody to analyze potential pathogenicity of new HYDIN variants detected in the patient with primary ciliary dyskinesia
    Authors:
    HANNA PRZYSTAŁOWSKA-MACIOŁA, ZUZANNA BUKOWY-BIERYŁŁO, ALICJA RABIASZ, EWA ZIĘTKIEWICZ
    Conference:
    Polski Kongres Genetyki (rok: 2022, ), Wydawca: PTG, PTGCz
    Data:
    konferencja 2022-06-27-30
    Status:
    Published
  4. POLR2K as a passenger gene mutated together with SPAG1, the known primary ciliary dyskinesia (PCD) gene
    Authors:
    ALICJA RABIASZ, MONIKA DROBNA-ŚLEDZIŃSKA, NATALIA MAĆKOWSKAMAŚLAK, EWA ZIĘTKIEWICZ
    Conference:
    Polski Kongres Genetyki (rok: 2022, ), Wydawca: PTG, PTGCz
    Data:
    konferencja 2022-06-27-30
    Status:
    Published
  5. Transcriptome comparison of differentiating nasal and bronchial airway epithelium from male and female donors
    Authors:
    Joanna Jurczak, Zuzanna Bukowy-Bieryłło, Hanna Przystałowska-Macioła, Roman Jaksik, Ewa Ziętkiewicz
    Conference:
    6th BIO Life Science Congress, Poznań (rok: 2025, ), Wydawca: BIO Life Science Congress
    Data:
    konferencja 17t-20.09.2025
    Status:
    Published
  6. Primary ciliary dyskinesia: on the lookout for large deletions
    Authors:
    PATRYCJA KAŹMIERCZAK, PATRYCJA DACA-ROSZAK, EWA ZIĘTKIEWICZ
    Conference:
    Polski Kongres Genetyki (rok: 2022, ), Wydawca: PTG, PTGCz
    Data:
    konferencja 2022-06-27-30
    Status:
    Published
  7. A novel, protein-truncating variant of CFAP221 is a cause of a mild form of primary ciliary dyskinesia
    Authors:
    Alicja Rabiasz, Zuzanna Bukowy-Bieryłło, Patrycja Kaźmierczak, Hanna Przystałowska-Macioła, Marcin Mikoś, Irena Wojsyk-Banaszak, Ewa Ziętkiewicz
    Conference:
    6th BIO Life Science Congress, Poznań (rok: 2025, ), Wydawca: BIO Life Science Congress
    Data:
    konferencja 17-20.09.2025
    Status:
    Published
  1. Pierwotna dyskineza rzęsek: podłoże molekularne i genetyczne oraz wskazania dla nowoczesnej diagnostyki
    Authors:
    E. Ziętkiewicz, M. Witt
    Book:
    Genetyka w chorobach układu oddechowego (rok: 2022, tom: EAN: 978832006 6128, strony: 46051), Wydawca: PZWL Wydawnictwo Lekarskie
    Status:
    Published
  2. Pierwotna dyskineza rzęsek: od epidemiologii do medycyny spersonalizowanej
    Authors:
    E. Ziętkiewicz, M. Witt
    Book:
    Nauka dla społeczeństwa. Osiągnięcia Instytutu Genetyki Człowieka PAN (rok: 2021, tom: brak, strony: 221-235), Wydawca: IGC PAN
    Status:
    Published

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