Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Whole exome sequencing in Polish population of patients - search for the genetic basis of primary ciliary dyskinesia, PCD

2014/13/B/NZ2/03858

Keywords:

molecular diagnostics ciliary motility dysfunction exome sequencing heterogeneous genetic background ciliome mutations haplotypes motile cilia ultrastructure microtubules dynein arms radial spokes nexin links assembly of ciliary elements immunofluorescence high-speed video microscopy Polish or Slavic population

Descriptors:

  • NZ2_11: Genetic epidemiology
  • NZ7_1: Epidemiology
  • NZ5_5: Diagnostics in human diseases

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 Ziętkiewicz 

Number of co-investigators in the project: 8

Call: OPUS 7 - announced on 2014-03-17

Amount awarded: 1 200 772 PLN

Project start date (Y-m-d): 2015-01-26

Project end date (Y-m-d): 2018-07-25

Project duration:: 42 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. Komora do pracy z RNA.
  2. PC lub laptop z monitorem (10 000 PLN)
  3. Veriti 96 well Fast Thermal Cycler [Applied Biosystems] (30 000 PLN)
  4. Mikroskop fluorescencyjny z wyposażeniem (180 000 PLN)
  5. Stereoskop z kamerą i wyposażeniem.

Information in the final report

  • Publication in academic press/journals (3)
  • Articles in post-conference publications (1)
  1. CFAP300: mutations in Slavic patients with primary ciliary dyskinesia and a role in ciliary dynein arms trafficking
    Authors:
    Ewa Zietkiewicz, Zuzanna Bukowy-Bieryllo, Alicja Rabiasz, Patrycja Daca-Roszak, Alina Wojda, Katarzyna Voelkel, Ewa Rutkiewicz, Andrzej Pogorzelski, Michal Witt
    Academic press:
    American Journal of Respiratory Cell and Molecular Biology (rok: 2019, tom: 61(4), strony: 440-449), Wydawca: ATSJournals
    Status:
    Published
    DOI:
    10.1165/rcmb.2018-0260OC. - link to the publication
  2. ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
    Authors:
    Kurkowiak M, Ziętkiewicz E, Greber A, Voelkel K, Wojda A, Pogorzelski A, Witt M.
    Academic press:
    PLoS One (rok: 2016, tom: 11, strony: 45305), Wydawca: Anand Swaroop, National Eye Institute,UNITED STATES
    Status:
    Published
    DOI:
    10.1371/journal.pone.0148067 - link to the publication
  3. Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
    Authors:
    Zuzanna Bukowy-Bieryllo, Alicja Rabiasz, Maciej Dabrowski, Andrzej Pogorzelski, Alina Wojda, Hanna Dmenska, Katarzyna Grzela, Jakub Sroczynski, Michal Witt, Ewa Zietkiewicz
    Academic press:
    Journal of Medical genetics (rok: 2019, tom: 56/11, strony: 769-777), Wydawca: BMJ Journals
    Status:
    Published
    DOI:
    10.1136/jmedgenet-2018-105918. - link to the publication
  1. P05: In vitro differentiation of respiratory epithelial cells in the sequential culture model
    Authors:
    Maciej Dabrowski, Zuzanna Bukowy-Bieryllo, Agnieszka Wyszomirska-Fedoruk, Magdalena Pikulska, Michal Witt, Ewa Zietkiewicz
    Conference:
    2nd BEAT-PCD Conference and 3rd PCD training School, , Valencia, Spain (rok: 2018, ), Wydawca: BioMed Central
    Data:
    konferencja 18-21 April 2017
    Status:
    Published
    DOI:
    link to the publication

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