Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Systematic genomic search for novel genes/variants in consanguineous families including males with reproductive failure

2020/37/B/NZ5/00549

Keywords:

whole genome sequencing male infertility azoospermia spermatogenesis gene mutations

Descriptors:

  • NZ5_005:
  • NZ2_011:
  • NZ2_002:

Panel:

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

Host institution :

Instytut Genetyki Człowieka PAN

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Maciej Krzysztof Kurpisz 

Number of co-investigators in the project: 9

Call: OPUS 19 - announced on 2020-03-16

Amount awarded: 2 360 400 PLN

Project start date (Y-m-d): 2021-02-22

Project end date (Y-m-d): 2025-02-21

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

Project status: Project completed

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 (6)
  1. Evaluation of seminal plasma HSPA2 protein as a biomarker of human spermatogenesis status
    Authors:
    Nowicka-Bauer K, Malcher A, Włoczkowska O, Kamieniczna M, Olszewska M, Kurpisz MK
    Academic press:
    Reproductive Biology (), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.repbio.2021.100597 - link to the publication
  2. ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia
    Authors:
    Malcher A, Graczyk Z, Bauer H, Stokowy T, Berman A, Smolibowski M, Blaszczyk D, Jedrzejczak P, Yatsenko AN, Kurpisz M.
    Academic press:
    Scientific Reports , Wydawca: NATURE PORTFOLIO
    Status:
    Published
    DOI:
    10.1038/s41598-023-43854-9 - link to the publication
  3. VARICOCELECTOMY IMPROVES SPERM PARAMETERS, SPERM DNA INTEGRITY AS WELL AS THE OTHER CRITICAL SEMEN FEATURES
    Authors:
    Nakonechnyi Y, Nakonechnyi A, Fraczek M, Havrylyuk A, Kamieniczna M, Chopyak V, Kurpisz M
    Academic press:
    J. Physiol. Pharmacol. (), Wydawca: POLISH PHYSIOLOGICAL SOC
    Status:
    Published
    DOI:
    10.26402/jpp.2022.6.09 - link to the publication
  4. Human live spermatozoa morphology assessment using digital holographic microscopy
    Authors:
    Marzena Kamieniczna, Ewa Stachowska, Agata Augustynowicz, Tomasz Woźniak, Maciej K. Kurpisz
    Academic press:
    Sci Reports , Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1038/s41598-022-08798-6 - link to the publication
  5. Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
    Authors:
    Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, et al.
    Academic press:
    Human Genetics (), Wydawca: Springer-Verlag GmbH Germany
    Status:
    Published
    DOI:
    10.1007/s00439-021-02287-y - link to the publication
  6. Proteomic approach towards identification of seminal fluid biomarkers from individuals with severe oligozoospermia, cryptozoospermia and non-obstructive azoospermia: a pilot study
    Authors:
    Nowicka-Bauer K, Kamieniczna M, Olszewska M, Kurpisz MK
    Academic press:
    Transl Androl Urol (), Wydawca: AME PUBLISHING COMPANY
    Status:
    Published
    DOI:
    10.21037/tau-23-130 - link to the publication

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