Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Attempt to identify molecular basis and physiological effects of mutations in genes coding for erythrocyte membrane of patients with herditary spherocytosis

2015/19/B/NZ5/03469

Keywords:

hereditary spherocytosis red blood cell membrane mutations spectrin erythrocyte ankyrin

Descriptors:

  • NZ2_2: Genomics, transcriptomics, epigenomics
  • NZ5_3: Pathogenesis of human diseases
  • NZ5_5: Diagnostics in 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 Wrocławski, Wydział Biotechnologii

woj. dolnośląskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Aleksander Sikorski 

Number of co-investigators in the project: 5

Call: OPUS 10 - announced on 2015-09-15

Amount awarded: 724 944 PLN

Project start date (Y-m-d): 2016-06-20

Project end date (Y-m-d): 2021-02-19

Project duration:: 56 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

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

Equipment purchased [PL]

  1. Lodówka SJ-BA20MX02-EU Sharp.

Information in the final report

  • Publication in academic press/journals (4)
  1. A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'- nucleotidase deficiency
    Authors:
    Dżamila M. Bogusławska1*, Michał Skulski2, Rafał Bartoszewski3, Beata Machnicka1, Elżbieta Heger1, Kazimierz Kuliczkowski4, Aleksander F. Sikorski5
    Academic press:
    Cellular and Molecular Biology Letters (rok: 2022, tom: 27, strony: 104), Wydawca: SpringerNature/BMC
    Status:
    Published
    DOI:
    10.1186/s11658-022-00405-w - link to the publication
  2. Role of Extrinsic Apoptotic Signaling Pathway during Definitive Erythropoiesis in Normal Patients and in Patients with β-Thalassemia
    Authors:
    Olga Raducka-Jaszul, Dzamila M. Bogusławska, Natalia Jędruchniewicz and Aleksander F. Sikorski
    Academic press:
    International Journal of Molecular Sciences (rok: 2020, tom: 21,, strony: 3325), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms21093325 - link to the publication
  3. Role of spectrin in cell adhesion and cell-cell contact
    Authors:
    Beata Machnicka1, Renata Grochowalska1, Dżamila M. Bogusławska1, Aleksander F. Sikorski2
    Academic press:
    Experimental Biology and Medicine (rok: 2019, tom: 10,1666666666667, strony: 1303–1312), Wydawca: SAGE
    Status:
    Published
    DOI:
    10.1177/1535370219859003 - link to the publication
  4. Identification of novel mutation of β-spectrin in hereditary spherocytosis with help of whole exome sequencing
    Authors:
    Dżamila M. Bogusławska1, Michał Skulski2, Beata Machnicka1, Stanisław Potoczek3, Sebastian Kraszewski, Kazimierz Kuliczkowski3, Aleksander F. Sikorski2
    Academic press:
    International Journal of Molecular Sciences (rok: 2021, tom: 22, strony: 11007), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms222011007 - link to the publication

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