Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

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Molecular characterisation of novel mutations in the gene encoding the luteinizing hormone/choriogonadotropin receptor (LHCGR)

2018/29/N/NZ5/02670

Keywords:

luteinizing hormone/choriogonadotropin receptor mutations disorder of sex development phenotype

Descriptors:

  • NZ5_1: Etiology of human diseases
  • NZ4_6: Endocrinology
  • NZ4_2: Physiology

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Uniwersytet Medyczny w Lublinie, Wydział Lekarski

woj. lubelskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Kamila Adamczuk 

Number of co-investigators in the project: 2

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

Amount awarded: 139 965 PLN

Project start date (Y-m-d): 2019-02-11

Project end date (Y-m-d): 2023-10-10

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

Project status: Project completed

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 (3)
  1. The pathogenic TSH β-subunit variant C105Vfs114X causes a modified signaling profile at TSHR.
    Authors:
    Laura Kalveram, Gunnar Kleinau, Kamila Szymańska, Patrick Scheerer, Adolfo Rivero-Müller, Annette Grüters-Kieslich, Heike Biebermann.
    Academic press:
    International Journal of Molecular Sciences (rok: 2019, tom: vol. 20 nr 22, strony: 45677), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms20225564 - link to the publication
  2. Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development.
    Authors:
    Iulia Potorac, Ashutosh Trehan, Kamila Szymańska, Julie Fudvoye, Albert Thiry, Ilpo Huhtaniemi, Adrian F. Daly, Albert Beckers, Anne-Simone Parent, Adolfo Rivero-Müller.
    Academic press:
    European Journal of Endocrinology (rok: 2019, tom: vol. 181 nr 2, strony: K11-K20), Wydawca: Bioscientifica
    Status:
    Published
    DOI:
    10.1530/EJE-19-0170 - link to the publication
  3. Glycoprotein-glycoprotein receptor binding detection using bioluminescence resonance energy transfer
    Authors:
    Kamila Adamczuk, Thu Ha Ngo, Jakub Czapinski, Adolfo Rivero-Müller
    Academic press:
    Endocrinology (), Wydawca: Oxford Academic
    Status:
    Submitted
    DOI:
    brak - link to the publication

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