Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

Delete all

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. 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
  3. 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
  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

O Narodowym Centrum Nauki

Finansowanie nauki

Współpraca zagraniczna

Centrum prasowe

Deklaracja dostępności
Przetwarzanie danych osobowych
Polityka cookies

Partnerzy