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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

Descriptors

  • NZ5_005: Diagnostyka chorób człowieka
  • NZ2_011: Epidemiologia genetyczna
  • NZ2_002: Genomika, transkryptomika i epigenomika

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

Voivodeship: 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
2021-02-22
Project end date
2027-02-21
Project duration
72 months (the same as in the proposal)
Project status
Pending project

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 (8)

  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 (year: 2022, volume: 22, pages: in press), Publisher: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.repbio.2021.100597 – link to the publication

  2. Effects of Tcte1 knockout on energy chain transportation and spermatogenesis: implications for male infertility

    Authors:
    Marta Olszewska, Agnieszka Malcher, Tomasz Stokowy, Nijole Pollock, Andrea J Berman, Sylwia Budkiewicz, Marzena Kamieniczna, Hanna Jackowiak, Joanna Suszynska-Zajczyk, Piotr Jedrzejczak, Alexander N Yatsenko, Maciej Kurpisz,
    Academic press:
    Human Reproduction Open (year: 2024, volume: 2024, pages: hoae020), Publisher: OXFORD UNIV PRESS
    Status:
    Published
    DOI:
    10.1093/hropen/hoae020 – link to the publication

  3. 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 (year: 2023, volume: 12, pages: 1497-1510), Publisher: AME PUBLISHING COMPANY
    Status:
    Published
    DOI:
    10.21037/tau-23-130 – link to the publication

  4. 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 (year: 2021, volume: 140, pages: 1169-1182), Publisher: Springer-Verlag GmbH Germany
    Status:
    Published
    DOI:
    10.1007/s00439-021-02287-y – link to the publication

  5. 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 (year: 2023, volume: 13, pages: 16563), Publisher: NATURE PORTFOLIO
    Status:
    Published
    DOI:
    10.1038/s41598-023-43854-9 – link to the publication

  6. 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. (year: 2022, volume: 73, pages: 763-773), Publisher: POLISH PHYSIOLOGICAL SOC
    Status:
    Published
    DOI:
    10.26402/jpp.2022.6.09 – link to the publication

  7. 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 (year: 2022, volume: 12, pages: 4846), Publisher: Springer Nature
    Status:
    Published
    DOI:
    10.1038/s41598-022-08798-6 – link to the publication

  8. HLA-DQB1 as a potential prognostic biomarker of hormonal therapy in patients with non-obstructive azoospermia

    Authors:
    Agnieszka Malcher, Marzena Kamieniczna, Natalia Rozwadowska, Tomasz Stokowy, Anna Berger, Piotr Jedrzejczak, Jan Karol Wolski, Maciej Kurpisz
    Academic press:
    Reproductive Biology (year: 2024, volume: 24, pages: 100949), Publisher: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.repbio.2024.100949 – link to the publication

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