Projects funded by the NCN


Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Genetic diversity in Kashubians: origin of recurrent pathogenic mutations and specificity of neutral genetic diversity profile.

2017/25/B/NZ2/00519

Keywords:

genetic specificity of ethnic groups background haplotypes founder effect genetic diversity copy number variations profile Kashubians

Descriptors:

  • NZ2_11:
  • NZ8_9:

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Gdański Uniwersytet Medyczny, Wydział Lekarski

woj. pomorskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Beata Stefania Lipska-Ziętkiewicz 

Number of co-investigators in the project: 7

Call: OPUS 13 - announced on 2017-03-15

Amount awarded: 954 820 PLN

Project start date (Y-m-d): 2018-06-04

Project end date (Y-m-d): 2023-12-03

Project duration:: 66 months (the same as in the proposal)

Project status: Project settled

Project description

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Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Information in the final report

  • Publication in academic press/journals (6)
  • Articles in post-conference publications (1)
  1. Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants
    Authors:
    Maciej Jankowski , Patrycja Daca-Roszak, Cezary Obracht-Prondzyński, Rafał Płoski , Beata S Lipska-Ziętkiewicz, Ewa Ziętkiewicz
    Academic press:
    Journal of Applied Genetics (rok: 2022, tom: 63(4), strony: 691-701), Wydawca: Springer Nature Switzerland AG. Part of Springer Nature.
    Status:
    Published
    DOI:
    10.1007/s13353-022-00713-z - link to the publication
  2. NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli
    Authors:
    Lipska-Ziętkiewicz BS, Schaefer F.
    Academic press:
    Am J Kidney Dis (rok: 2019, tom: 73(6), strony: 890-892), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1053/j.ajkd.2019.01.015 - link to the publication
  3. Estimation of the age of the Kashubian-specific pathogenic NPHS2 variant responsible for hereditary steroid-resistant nephrotic syndrome points to its recent local origin
    Authors:
    Jankowski M, Daca-Roszak P, Bałasz-Chmielewska I, Ustaszewski A, Żurowska A,, Lipska-Ziętkiewicz BS and Ziętkiewicz E
    Academic press:
    Human Mutation (rok: 2024, tom: w opracowaniu, strony: w opracowaniu), Wydawca: Wiley Hindawi
    Status:
    Published
    DOI:
    10.1155/2024/8205102 - link to the publication
  4. Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
    Authors:
    Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS.
    Academic press:
    Kidney International (rok: 2021, tom: 99, strony: 1451–1458), Wydawca: Elsevier
    Status:
    Published
  5. Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
    Authors:
    Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F.
    Academic press:
    Kidney International (rok: 2022, tom: 102(3), strony: 592-603), Wydawca: Elsevier Inc
    Status:
    Published
    DOI:
    10.1016/j.kint.2022.02.040. - link to the publication
  6. The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems
    Authors:
    Daca-Roszak Patrycja , Fiedorowicz Joanna , Jankowski Maciej , Ciesielka Marzanna, Teresiński Grzegorz , Lipska-Zietkiewicz Beata , Zietkiewicz Ewa , Grzybowski Tomasz , Skonieczna Katarzyna
    Academic press:
    Journal of Applied Genetics (rok: 2023, tom: w opracowaniu, strony: w opracowaniu), Wydawca: Springer Nature Switzerland AG. Part of Springer Nature.
    Status:
    Published
    DOI:
    10.1007/s13353-023-00821-4 - link to the publication
  1. Znaczenie efektu założyciela w diagnostyce chorób dziedzicznych.
    Authors:
    Jankowski M, Lipska-Ziętkiewicz BS.
    Conference:
    12 Szkoła Neurometaboliczna (rok: 2023, ), Wydawca: Klinika Pediatryczna
    Data:
    konferencja 10-11.03.2023
    Status:
    Published