Role of genes encoding collagen secretion proteins in pathogenesis of hypermobile type of Ehlers-Danlos syndrome
2018/29/N/NZ5/00345
Keywords
Descriptors
- NZ2_1: Genetyka molekularna
- NZ5_3: Patogeneza chorób człowieka
- NZ5_1: Etiologia chorób człowieka
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 w Toruniu, Collegium Medicum im. Ludwika Rydygiera w Bydgoszczy; Wydział Lekarski
Voivodeship: kujawsko-pomorskie
Principal investigator (from the host institution)
Number of co-investigators in the project: 2
Call
PRELUDIUM 15 – announced on 2018-03-15
- Amount awarded
- 112 280 PLN
- Project start date
- 2019-01-24
- Project end date
- 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)
-
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 (year: 2023, volume: Published online on January 5, 2023, pages: 46027), Publisher: Wroclaw Medical University
- Status:
- Published
- DOI:
- 10.17219/acem/158028 – link to the publication
-
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 (year: 2023, volume: 1, pages: 102-106), Publisher: Termedia
- Status:
- Published
- DOI:
- 10.5114/ada.2022.124107 – link to the publication