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Information on the principal investigator and host institution

Information of the project and the call

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Exome-sequencing-based analyses for searching of genetic modifiers of Wilson's disease phenotypes.

2013/11/B/NZ2/00130

Keywords:

Wilson's disease ATP7B phenotype

Descriptors:

  • NZ2_11: Genetic epidemiology

Panel:

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

Host institution :

Instytut Psychiatrii i Neurologii

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Anna Członkowska 

Number of co-investigators in the project: 12

Call: OPUS 6 - announced on 2013-09-16

Amount awarded: 1 698 000 PLN

Project start date (Y-m-d): 2014-09-16

Project end date (Y-m-d): 2018-09-15

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

Project status: Project settled

Information in the final report

  • Publication in academic press/journals (3)
  1. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype
    Authors:
    Kluska A, Kulecka M, Litwin T, Dziezyc K, Balabas A, Piatkowska M, Paziewska A, Dabrowska M, Mikula M, Kaminska D, Wiernicka A, Socha P, Czlonkowska A, Ostrowski J.
    Academic press:
    Liver Int. (rok: 2018, tom: 45554, strony: 24), Wydawca: Wiley Online Library
    Status:
    Published
    DOI:
    10.1111/liv.13967. - link to the publication
  2. Wilson disease
    Authors:
    Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski K J, Weiss H K , Schilsky L M.
    Academic press:
    Nature Reviews Disease Primers (rok: 2018, tom: 4, strony: 21), Wydawca: Springer Nature Ltd
    Status:
    Published
    DOI:
    10.1038/s41572-018-0024-5 - link to the publication
  3. A heterozygous mutation in GOT1 is associated with familial macro-aspartate aminotransferase
    Authors:
    Kulecka M, Wierzbicka A, Paziewska A, Mikula M, Habior A, Janczyk W, Dabrowska M, Karczmarski J, Lazniewski M, Ginalski K, Czlonkowska A, Socha P, Ostrowski J.
    Academic press:
    Journal of Hepatology (rok: 2017, tom: 67(5), strony: 1026-1030), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.jhep.2017.07.003. - link to the publication

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