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Transcriptome analysis in human keratoconus corneas using RNA-seq technology and the pilot study of keratoconus eye microbiome

2012/05/E/NZ5/02127

Keywords

Descriptors

  • NZ5_1: Etiologia chorób człowieka

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

Voivodeship: wielkopolskie

Other projects carried out by the institution »

Principal investigator (from the host institution)

dr hab. Marzena Gajęcka

Number of co-investigators in the project: 6

Call

SONATA BIS 1 – announced on 2012-03-15

Amount awarded
1 430 000 PLN
Project start date
2013-03-04
Project end date
2019-03-03
Project duration
72 months (the same as in the proposal)
Project status
Project settled

Information in the final report

Publication in academic press/journals (10)

  1. Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci

    Authors:
    Michal Kabza, Justyna A. Karolak, Malgorzata Rydzanicz, Monika Udziela, Piotr Gasperowicz, Rafal Ploski, Jacek P. Szaflik, and Marzena Gajecka
    Academic press:
    Invest Ophthalmol Vis Sci.; JCR® Category: OPHTHALMOLOGY; Rank in Category: 10 of 60; Quartile in Category: Q1 (source: Web of Science, 2019) (year: 2019, volume: 60, pages: Apr 1;60(5):1501-1509), Publisher: ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
    Status:
    Published
    DOI:
    10.1167/iovs.18-25916 – link to the publication

  2. Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye

    Authors:
    Swierkowska J, Gajecka M
    Academic press:
    Ophthalmic Genet. (year: 2017, volume: 38, pages: 501-510), Publisher: Taylor&Francis
    Status:
    Published
    DOI:
    10.1080/13816810.2017.1313993 – link to the publication

  3. Characterization of ocular surface microbial profiles revealed discrepancies between conjunctival and corneal microbiota

    Authors:
    Anna Matysiak, Michal Kabza, Justyna A. Karolak, Marcelina M. Jaworska, Malgorzata Rydzanicz, Rafal Ploski, Jacek P. Szaflik, Marzena Gajecka
    Academic press:
    Pathogens (year: 2021, volume: 10, 405, pages: 46034), Publisher: MDPI
    Status:
    Published
    DOI:
    link to the publication

  4. Further evaluation of differential expression of keratoconus candidate genes in human corneas

    Authors:
    Justyna A. Karolak, Barbara Ginter-Matuszewska, Katarzyna Tomela, Michal Kabza, Dorota M. Nowak-Malczewska, Malgorzata Rydzanicz, Piotr Polakowski, Jacek P. Szaflik and Marzena Gajecka
    Academic press:
    PeerJ-– Life and Environment (year: 2020, volume: 8, pages: e9793), Publisher: PeerJ
    Status:
    Published
    DOI:
    10.7717/peerj.9793 – link to the publication

  5. Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas

    Authors:
    Michal Kabza, Justyna A Karolak, Malgorzata Rydzanicz, Michał W Szcześniak, Dorota M Nowak, Barbara Ginter-Matuszewska, Piotr Polakowski, Rafal Ploski, Jacek P Szaflik and Marzena Gajecka
    Academic press:
    European Journal of Human Genetics; JCR® Category: GENETICS & HEREDITY; Rank in Category: 56 of 178; Quartile in Category: Q2 (source: Web of Science, 2019) (year: 2017, volume: 25, pages: 582-590), Publisher: Macmillan Publishers Limited, part of Springer Nature
    Status:
    Published
    DOI:
    10.1038/ejhg.2017.4 – link to the publication

  6. Evidence against ZNF469 being causative for keratoconus in Polish patients

    Authors:
    Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Gajecka M.
    Academic press:
    Acta Ophthalmol.; JCR® Category: OPHTHALMOLOGY; Rank in Category: 11 of 60; Quartile in Category: Q1 (source: Web of Science, 2019) (year: 2016, volume: 94, pages: 289–294), Publisher: Wiley Online Library
    Status:
    Published
    DOI:
    10.1111/aos.12968 – link to the publication

  7. Unrevealed mosaicism in the Next Generation Sequencing era

    Authors:
    Marzena Gajecka
    Academic press:
    Molecular Genetics and Genomics (year: 2016, volume: 291, pages: 513–530), Publisher: Springer
    Status:
    Published
    DOI:
    10.1007/s00438-015-1130-7 – link to the publication

  8. KTCNlncDB—a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas

    Authors:
    Michał W. Szczesniak, Michal Kabza Justyna A. Karolak, Malgorzata Rydzanicz, Dorota M. Nowak, Barbara Ginter-Matuszewska, Piotr Polakowski, Rafal Ploski, Jacek P. Szaflik and Marzena Gajecka
    Academic press:
    Database; JCR® Category: MATHEMATICAL & COMPUTATIONAL BIOLOGY; Rank in Category: 15 of 59; Quartile in Category: Q2 (source: Web of Science, 2019) (year: 2017, volume: baw168, pages: 46028), Publisher: Oxford Academic
    Status:
    Published
    DOI:
    10.1093/database/baw168 – link to the publication

  9. Genomic strategies to understand causes of keratoconus

    Authors:
    Justyna A. Karolak, Marzena Gajecka
    Academic press:
    Mol Genet Genomics (year: 2017, volume: 292, pages: 251–269), Publisher: Springer
    Status:
    Published
    DOI:
    10.1007/s00438-016-1283-z – link to the publication

  10. Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci

    Authors:
    DM Nowak, M Gajecka
    Academic press:
    PLOS ONE; JCR® Category: MULTIDISCIPLINARY SCIENCES; Rank in Category: 27 of 71; Quartile in Category Q2 (source: Web of Science, 2019) (year: 2015, volume: PLoS ONE 10(7), pages: e0132143), Publisher: PUBLIC LIBRARY SCIENCE
    Status:
    Published
    DOI:
    10.1371/journal.pone.0132143 – link to the publication

Articles in post-conference publications (19)

  1. Złożoność aspektów genetycznych w wieloczynnikowej chorobie narządu wzroku – stożku rogówki

    Authors:
    Gajecka M, Karolak JA, Nowak DM, Polakowski P, Szaflik J, Szaflik JP
    Conference:
    IV Polski Kongres Genetyki (year: 2013, pages: 32-33), Publisher: Polskie Towarzystwo Genetyki
    Date:
    conference September10-13, 2013
    Status:
    Published

  2. Transcriptome analyzes in human corneas derived from keratoconus and control individuals from Poland

    Authors:
    M. Gajecka, J. A. Karolak, M. Kabza, D. M. Nowak, P. Polakowski, J. P. Szaflik
    Conference:
    Annual Meeting of American Society of Human Genetics (year: 2014, pages: 558T), Publisher: ashg.org
    Date:
    conference 18-22.10.2014
    Status:
    Published
    DOI:
    link to the publication

  3. Assessment of ocular surface microbiota in keratoconus patients – a pilot study

    Authors:
    M GAJECKA, A MATYSIAK, M KUBICKA and JP SZAFLIK
    Conference:
    Association for Vision and Eye Research Conference (year: 2014, pages: Volume 92, Issue Supplement s253), Publisher: 2014 Acta Ophthalmologica, Wiley
    Date:
    conference 1-4.10.2014
    Status:
    Published
    DOI:
    link to the publication

  4. Complexity of Genetics in Keratoconus

    Authors:
    Marzena Gajecka, Piotr Polakowski, Jacek P. Szaflik, Justyna A. Karolak
    Conference:
    BIT's 6th Annual World DNA and Genome Day-2015 (year: 2015, pages: 186), Publisher: BIT
    Date:
    conference April 25-28, 2015
    Status:
    Published

  5. Analiza transkryptomu w ludzkich rogówkach oraz badanie profilu proteomicznego i metabolomicznego płynu łzowego polskich pacjentów ze stożkiem rogówki

    Authors:
    Gajecka M, Karolak JA, Kabza M, Nowak DM, Matysiak A, Kubicka M, Derezinski P, Hajduk J, Klupczynska A, Polakowski P, Szaflik J, Kokot Z, Szaflik JP
    Conference:
    VII ZJAD POLSKIEGO TOWARZYSTWA GENETYKI CZŁOWIEKA (year: 2014, pages: 88), Publisher: PTGCz
    Date:
    conference 8-10.09.2014
    Status:
    Published

  6. Zmiany mikrobiomu powierzchni oka jako czynnik środowiskowy w etiologii stożka rogówki- badanie pilotażowe/The ocular surface microbiota changes as an environmental factor in the etiology of Keratoconus- preliminary research

    Authors:
    Anna Matysiak, Jacek P. Szaflik, Marcelina Kubicka, Marzena Gajecka
    Conference:
    XLV Zjazd Okulistów Polskich/45th Congress of Polish Society of Ophthalmology (year: 2014, pages: bd), Publisher: Polskie Towarzystwo Okulistyczne
    Date:
    conference June 5-7, 2014
    Status:
    Published

  7. Variant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family

    Authors:
    Marzena Gajecka, Malgorzata Rydzanic , Barbara Ginter-Matuszewska , Jose A. Pitarque, Andrea Molinari , Bassem A. Bejjani, Justyna A. Karolak
    Conference:
    International Congress of Human Genetics, Kyoto, Japonia (year: 2016, pages: nie dotyczy), Publisher: ICHG
    Date:
    conference 3-7.4.2016
    Status:
    Published

  8. Pilot study in Polish keratoconus patients using next generation sequencing

    Authors:
    Marzena Gajecka, Justyna Karolak, Dorota Nowak, Piotr Polakowski, Jacek P. Szaflik.
    Conference:
    European Association for Vision and Eye Research, EVER 2013 (year: 2013, pages: Volume 91, Issue Supplement s252, August 2013), Publisher: Acta Ophthalmologica
    Date:
    conference Francja, Nicea, 18-21.10.2013.
    Status:
    Published
    DOI:
    link to the publication

  9. Charakterystyka miRNA w rogówce

    Authors:
    Nowak DM, Karolak JA, Gajęcka M
    Conference:
    XLVI Zjazd Okulistów Polskich (year: 2015, pages: 16), Publisher: PTO
    Date:
    conference 18-20.06.2015
    Status:
    Published

  10. Analiza sekwencji genu ZNF469 w grupie polskich pacjentów ze stożkiem rogówki

    Authors:
    Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Lupski JR, Stankiewicz P, Gajecka M
    Conference:
    XLVI Zjazd Okulistów Polskich (year: 2015, pages: 9), Publisher: PTO
    Date:
    conference 18-20.06.2015
    Status:
    Published

  11. Downregulation of core elements of TGF-β, Hippo, Wnt, and collagen synthesis pathways in keratoconus corneas

    Authors:
    Justyna A. Karolak, Michal Kabza, Malgorzata Rydzanicz, Michał W. Szcześniak, Dorota M. Nowak, Barbara Ginter-Matuszewska, Piotr Polakowski, Rafal Ploski, Jacek P. Szaflik, Marzena Gajęcka
    Conference:
    V Polski Kongres Genetyki; Łódź (year: 2016, pages: 213), Publisher: Polskie Towarzystwo Genetyczne, Polskie Towarzystwo Genetyki Człowieka
    Date:
    conference September 19-22, 2016
    Status:
    Published

  12. Comprehensive approach to understand causes of keratoconus

    Authors:
    Gajęcka Marzena, Justyna A. Karolak, Michal Kabza, Malgorzata Rydzanicz Barbara Ginter-Matuszewska, Dorota M. Nowak, Piotr Polakowski, Jacek P. Szaflik
    Conference:
    V Polski Kongres Genetyki; Łódź (year: 2016, pages: 213), Publisher: Polskie Towarzystwo Genetyczne, Polskie Towarzystwo Genetyki Człowieka
    Date:
    conference September 19-22, 2016
    Status:
    Published

  13. Sequence variants in mtDNA and mitochondrial transcripts in keratoconus Polish patients

    Authors:
    Dorota M. Nowak, Justyna A. Karolak, Marcelina M. Kubicka, Karolina Kulińska, Joanna Swierkowska, Michał Kabza, Piotr Polakowski, Małgorzata Rydzanicz, Rafal Ploski, Jacek P. Szaflik, Marzena Gajecka
    Conference:
    V Polski Kongres Genetyki (year: 2016, pages: 212), Publisher: Polskie Towarzystwo Genetyczne, Polskie Towarzystwo Genetyki Człowieka
    Date:
    conference September 19-22, 2016
    Status:
    Published

  14. Transcriptome profiling of human keratoconus corneas through RNA sequencing identifies collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways

    Authors:
    Justyna A. Karolak, Michal Kabza, Malgorzata Rydzanicz, Michał W. Szcześniak, Dorota M. Nowak, Barbara Ginter-Matuszewska, Piotr Polakowski, Rafal Ploski, Jacek P. Szaflik, Marzena Gajecka
    Conference:
    American Society of Human Genetics 66th Annual Meeting (year: 2016, pages: 672), Publisher: ASHG
    Date:
    conference 18-22.10.2016
    Status:
    Published

  15. Analiza ekspresji miRNA w rogówkach pacjentów ze stożkiem rogówki

    Authors:
    Dorota M. Nowak-Malczewska, Justyna A. Karolak, Michał Kabza, Małgorzata Rydzanicz, Rafał Płoski, Jacek P. Szaflik, Marzena Gajecka
    Conference:
    IX Zjazd Polskiego Towarzystwa Genetyki Człowieka (year: 2018, pages: NA), Publisher: PTGC
    Date:
    conference 13-15.9.2018
    Status:
    Published

  16. Zmiany w mikrobiota powierzchni oka jako czynnik środowiskowy w etiologii stożka rogówki - kontynuacja badań. Etap drugi

    Authors:
    Anna Matysiak, Jacek P. Szaflik, Piotr Polakowski, Marcelina Kubicka, Barbara Ginter-Matuszewska , Marzena Gajecka
    Conference:
    XLVI Zjazd Okulistów Polskich (year: 2015, pages: 169), Publisher: PTO
    Date:
    conference 18-20.06.2015
    Status:
    Published

  17. Multiple differentially methylated regions specific to keratoconus overlap known keratoconus linkage loci

    Authors:
    Marzena Gajecka, Justyna A. Karolak, Malgorzata Rydzanicz, Piotr Gasperowicz, Rafal Ploski, Jacek P. Szaflik, Michal Kabza
    Conference:
    European Society of Human Genetics Conference (year: 2018, pages: 56), Publisher: ESHG Conference c/o Vienna Medical Academy
    Date:
    conference 16-19.6.2018
    Status:
    Published

  18. Whole exome sequencing profiling indicates inter-tissue genetic variation in keratoconus patients

    Authors:
    J. A. Karolak, T. Gambin, M. Rydzanicz, P. Stawinski, P. Polakowski, R. Ploski, J. P. Szaflik, M. Gajecka;
    Conference:
    European Society of Human Genetics Conference (year: 2017, pages: NA), Publisher: ESHG Conference c/o Vienna Medical Academy
    Date:
    conference 27-30.5.2017
    Status:
    Published
    DOI:
    link to the publication

  19. Further assessment of genes with altered expression level in keratoconus corneal tissues

    Authors:
    K. Tomela, B. Ginter-Matuszewska, J. A. Karolak, M. Kabza, D. M. Nowak-Malczewska, P. Polakowski, J. P. Szaflik, M. Gajecka
    Conference:
    European Society of Human Genetics Conference (year: 2017, pages: NA), Publisher: ESHG Conference c/o Vienna Medical Academy
    Date:
    conference 27-30.5.2017
    Status:
    Published
    DOI:
    link to the publication

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Graphic design and implementation: Jakub Piotrowski