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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Novel causative genetic variants in azoospermia: whole genome analysis and functional in vitro studies

2017/26/D/NZ5/00789

Keywords:

male infertility genome editing next generation sequencing novel variants of azoospermia non-coding regions in genome

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ2_2: Genomics, transcriptomics, epigenomics
  • NZ1_1: Molecular biology

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 Polskiej Akademii Nauk

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Agnieszka Malcher 

Number of co-investigators in the project: 5

Call: SONATA 13 - announced on 2017-06-14

Amount awarded: 729 900 PLN

Project start date (Y-m-d): 2018-04-17

Project end date (Y-m-d): 2023-04-16

Project duration:: 60 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.

Equipment purchased [PL]

  1. Komputer do pracy twórczej z oprogramowaniem (Office, GraphPad) (7 500 PLN)

Information in the final report

  • Publication in academic press/journals (5)
  1. Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.
    Authors:
    Malcher A, Jedrzejczak P, Stokowy T, Monem S, Nowicka-Bauer K, Zimna A, Czyzyk A, Maciejewska-Jeske M, Meczekalski B, Bednarek-Rajewska K, Wozniak A, Rozwadowska N, Kurpisz M
    Academic press:
    International Journal of Molecular Sciences (rok: 2019, tom: 20(21), strony: pii: E5418), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms20215418 - link to the publication
  2. Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure
    Authors:
    Qureshi S, Hardy JJ, Pombar Ch, Berman AJ, Malcher A, Gingrich T, Hvasta R, Kuong J, Munyoki S, Hwang K, Orwig KE, Ahmed J, Olszewska M, Kurpisz M, Conrad DF, Jaseem Khan M, Yatsenko AN
    Academic press:
    Frontiers in Genetics (rok: 2023, tom: 14, strony: 45305), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fgene.2023.1134849 - link to the publication
  3. 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, Rotte N, Pollock NC, Sarah Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Maris Laan M, Kliesch S, Schleg P, Jaffe T, Hwang K, Vukina J, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN on behalf of GEMINI Consortium
    Academic press:
    Human Genetics (rok: 2021, tom: 140(8), strony: 1169-1182), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s00439-021-02287-y. - link to the publication
  4. Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia
    Authors:
    Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK.
    Academic press:
    Andrology (rok: 2022, tom: 10(8), strony: 1605-1624), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1111/andr.13269 - link to the publication
  5. ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia
    Authors:
    Agnieszka Malcher , Zuzanna Graczyk, Hermann Bauer, Tomasz Stokowy, Andrea Berman, Mikołaj Smolibowski, Dominika Blaszczyk , Piotr Jedrzejczak , Alexander N Yatsenko and Maciej Kurpisz *
    Academic press:
    Scientific Reports (rok: 2023, tom: 13(1), strony: 16563), Wydawca: Nature
    Status:
    Published
    DOI:
    10.1038/s41598-023-43854-9 - link to the publication

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