Projects funded by the NCN


Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

Delete all

Złożoność aspektów genetycznych w wieloczynnikowych chorobach narządu wzroku - stożku rogówki oraz wysokiej krótkowzroczności

2013/08/T/NZ5/00754

Keywords:

Descriptors:

  • NZ5_1: Etiology of human diseases

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, Wydział Farmaceutyczny

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Justyna Karolak 

Number of co-investigators in the project: 2

Call: ETIUDA 1 - announced on 2012-12-15

Amount awarded: 71 351 PLN

Project start date (Y-m-d): 2013-10-01

Project end date (Y-m-d): 2014-09-30

Project duration:: 12 months (the same as in the proposal)

Project status: Project settled

Information in the final report

  • Publication in academic press/journals (4)
  1. Variant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family
    Authors:
    Karolak JA, Rydzanicz M, Ginter-Matuszewska B, Pitarque JA, Molinari A, Bejjani BA, Gajecka M
    Academic press:
    Investigative Ophthalmology & Visual Science (rok: 2015, tom: 56(13), strony: 7687-90), Wydawca: Association for Research in Vision and Ophthalmology
    Status:
    Published
    DOI:
    10.1167/iovs.15-17538 - link to the publication
  2. Evidence against ZNF469 being causative for keratoconus in Polish patients
    Authors:
    Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Agata Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Gajecka M
    Academic press:
    Acta Ophthalmologica (rok: 2016, tom: 94(3), strony: 289-94), Wydawca: John Wiley & Sons Ltd
    Status:
    Published
    DOI:
    10.1111/aos.12968 - link to the publication
  3. Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification
    Authors:
    Karolak JA, Polakowski P, Szaflik J, Szaflik JP, Gajecka M.
    Academic press:
    Ophthalmic Genetics (rok: 2014, tom: 2014Jun 18:1-7., strony: 45298), Wydawca: Informa Healthcare
    Status:
    Published
    DOI:
    10.2014.926375 - link to the publication
  4. Genomic strategies to understand causes of keratoconus
    Authors:
    Karolak JA, Gajecka M
    Academic press:
    Molecular Genetics and Genomics (rok: 2016, tom: 2016 (Epub), strony: pp 1–19 (Epub ahead of print)), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s00438-016-1283-z - link to the publication