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Whole exome sequencing in Polish patients with sporadic keratoconus and a pilot study of keratoconus proteomic and metabolomic profiles of tears

2013/10/M/NZ2/00283

Keywords:

exome sequencing metabolomic and proteomic profiles keratoconus genetics

Descriptors:

  • NZ2_2: Genomics, transcriptomics, epigenomics
  • NZ2_3: Proteomics
  • NZ2_4: Metabolomics

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):

dr hab. Marzena Gajęcka 

Number of co-investigators in the project: 9

Call: HARMONIA 5 - announced on 2013-06-14

Amount awarded: 520 000 PLN

Project start date (Y-m-d): 2014-06-04

Project end date (Y-m-d): 2018-06-03

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Information in the final report

  • Publication in academic press/journals (7)
  • Articles in post-conference publications (9)
  1. 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. (rok: 2016, tom: 94(3), strony: 289-94), Wydawca: John Wiley & Sons Ltd
    Status:
    Published
    DOI:
    10.1111/aos.12968 - 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. (rok: 2017, tom: 1,5875, strony: 501-510), Wydawca: Taylor&Francis
    Status:
    Published
    DOI:
    10.2017.1313993 - link to the publication
  3. 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:
    Invest Ophthalmol Vis Sci. (rok: 2015, tom: 56(13), strony: 7687-90), Wydawca: ASSOC RESEARCH VISION OPHTHALMOLOGY INC
    Status:
    Published
    DOI:
    10.1167/iovs.15-17538 - link to the publication
  4. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole exome sequencing
    Authors:
    Justyna A. Karolak, Tomasz Gambin, Jose A. Pitarque, Andrea Molinari, Shalini Jhangiani, Pawel Stankiewicz, James R. Lupski, Marzena Gajecka
    Academic press:
    European Journal of Human Genetics (rok: 2017, tom: 25, strony: 73-78), Wydawca: NATURE PUBLISHING GROUP
    Status:
    Published
    DOI:
    10.1038/ejhg.2016.130 - link to the publication
  5. Genomic strategies to understand causes of keratoconus
    Authors:
    Justyna A. Karolak, Marzena Gajecka
    Academic press:
    Mol Genet Genomics (rok: 2017, tom: 292, strony: 251–269), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s00438-016-1283-z - link to the publication
  6. Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.
    Authors:
    Karolak JA, Gambin T, Rydzanicz M, Polakowski P, Ploski R, Szaflik JP, Gajecka M.
    Academic press:
    PeerJ. The Journal of Life and Environmental Sciences (rok: 2020, tom: 45396, strony: 8:e8982 (1-14)), Wydawca: PeerJ, Inc.
    Status:
    Published
    DOI:
    10.7717/peerj.8982 - link to the publication
  7. Unrevealed mosaicism in the next-generation sequencing era
    Authors:
    Gajecka M
    Academic press:
    Molecular Genetics and Genomics (rok: 2016, tom: 291, strony: 513-530), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s00438-015-1130-7 - link to the publication
  1. 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 (rok: 2016, ), Wydawca: PTG
    Data:
    konferencja 19-22.9.2016
    Status:
    Published
  2. 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 (rok: 2014, ), Wydawca: PTGC
    Data:
    konferencja 8-10.09.2014
    Status:
    Published
  3. Variants in SKP1, PROB1, and IL17B associated with familial keratoconus identified by linkage analysis combined with whole exome sequencing
    Authors:
    J. A. Karolak, T. Gambin, J. A. Pitarque, A. Molinari, S. Jhangiani, P. Stankiewicz, J. R. Lupski, M. Gajecka
    Conference:
    European Society of Human Genetics Conference, Annual Meeting, Barcelona (rok: 2016, ), Wydawca: ESHG
    Data:
    konferencja 21-24.5.2016
    Status:
    Published
  4. 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 Human Genetics Conference (ESHG) (rok: 2017, ), Wydawca: ESHG Conference c/o Vienna Medical Academy
    Data:
    konferencja 27-30.5.2017
    Status:
    Published
  5. 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 (rok: 2015, ), Wydawca: PTO
    Data:
    konferencja 18-20.06.2015
    Status:
    Published
  6. Evidence against ZNF469 being causative for keratoconus
    Authors:
    Justyna A. Karolak, Tomasz Gambin, Malgorzata Rydzanicz, Jacek P. Szaflik, Piotr Polakowski, Agata Frajdenberg, Malgorzata Mrugacz, Monika Podfigurna-Musielak, James R. Lupski, Pawel Stankiewicz, Marzena Gajecka
    Conference:
    Annual meeting of European Society of Human Genetics (rok: 2015, ), Wydawca: ESHG
    Data:
    konferencja Glasgow, 6-9.6.2015
    Status:
    Published
  7. Complexity of Genetics in Keratoconus
    Authors:
    Marzena Gajecka, Piotr Polakowski, Jacek P. Szaflik, Justyna A. Karolak
    Conference:
    6th World DNA and Genome Day (WDD-2015) (rok: 2015, ), Wydawca: organizator
    Data:
    konferencja 25.4.- 28.4.2015
    Status:
    Published
  8. Identification of rare sequence variants in genes involved in focal adhesion and Wnt signaling pathways in keratoconus human corneas.
    Authors:
    Justyna A. Karolak, Tomasz Gambin, Malgorzata Rydzanicz, Piotr Stawinski, Piotr Polakowski, Rafal Ploski, Jacek P. Szaflik, Marzena Gajecka
    Conference:
    The 67th Annual Meeting of the American Society of Human Genetics (ASHG 2017) (rok: 2017, ), Wydawca: ASHG
    Data:
    konferencja 17-21.10.2017
    Status:
    Published
  9. Variant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family
    Authors:
    Marzena Gajecka, Malgorzata Rydzanicz , Barbara Ginter-Matuszewska , Jose A. Pitarque, Andrea Molinari , Bassem A. Bejjani, Justyna A. Karolak
    Conference:
    The 13th International Congress of Human Genetics, Kyoto, Japonia (rok: 2016, ), Wydawca: ICHG
    Data:
    konferencja 3-7.4.2016
    Status:
    Published

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