Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

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Role of genes encoding collagen secretion proteins in pathogenesis of hypermobile type of Ehlers-Danlos syndrome

2018/29/N/NZ5/00345

Keywords:

Ehlers-Danlos syndrome connective tissue kolagen

Descriptors:

  • NZ2_1: Molecular genetics
  • NZ5_3: Pathogenesis of human diseases
  • NZ5_1: Etiology of 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 Mikołaja Kopernika, Collegium Medicum im. Ludwika Rydygiera w Bydgoszczy, Wydział Lekarski

woj. kujawsko-pomorskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Anna Junkiert-Czarnecka 

Number of co-investigators in the project: 2

Call: PRELUDIUM 15 - announced on 2018-03-15

Amount awarded: 112 280 PLN

Project start date (Y-m-d): 2019-01-24

Project end date (Y-m-d): 2022-01-23

Project duration:: 36 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.

Information in the final report

  • Publication in academic press/journals (2)
  1. The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome
    Authors:
    Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Olga Haus
    Academic press:
    Advances in Dermatology and Allergology (rok: 2023, tom: 1, strony: 102-106), Wydawca: Termedia
    Status:
    Published
    DOI:
    10.5114/ada.2022.124107 - link to the publication
  2. A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms ofEhlers–Danlos hypermobile syndrome
    Authors:
    Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Olga Haus
    Academic press:
    Advances in Clinical and Experimental Medicine (rok: 2023, tom: Published online on January 5,, strony: 45296), Wydawca: Wroclaw Medical University
    Status:
    Published
    DOI:
    10.17219/acem/158028 - link to the publication

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