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Searching for novel genes essential for human oligo- and azoospermia - mouse 'knockout' model

2015/17/B/NZ2/01157

Keywords

Descriptors

  • NZ2_2: Genomika, transkryptomika i epigenomika
  • NZ5_5: Diagnostyka chorób człowieka
  • NZ2_11: Epidemiologia genetyczna

Panel

NZ2 – Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

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: 8

Call

OPUS 9 – announced on 2015-03-16

Amount awarded
1 566 440 PLN
Project start date
2016-02-18
Project end date
2020-02-16
Project duration
48 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 stacjonarny. Cost: 5 000 PLN
  2. Lodówko-zamrażarka.
  3. Narzędzia mikrochirurgiczne. Cost: 3 000 PLN
  4. Skaner.
  5. Spektrofotometr Qubit® 3.0 Fluorometer. Cost: 8 500 PLN
  6. aparat do automatycznej izolacji kwasów nukleinowych (MagCore HF16). Cost: 65 000 PLN
  7. aparat do elektroforezy. Cost: 8 000 PLN
  8. doposażenie mikroskopu o system do dokumentacji mikroskopowej CellF (Olympus) oraz filtry fluorescencyjne. Cost: 46 500 PLN
  9. notebook.
  10. zestaw do analizy Western blot 13000 pln – doposażenie laboratorium w niezbędny zestaw do przeprowadzenia doswiadczeń. Cost: 13 000 PLN

Information in the final report

Publication in academic press/journals (8)

  1. Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)

    Authors:
    Olszewska , Wiland E, Huleyuk N, Fraczek M, Midro AT, Zastavna D, Kurpisz M
    Academic press:
    BMC Med Genomics (year: 2019, volume: 12, pages: 30), Publisher: Springer Nature/BioMed Central Ltd
    Status:
    Published
    DOI:
    10.1186/s12920-018-0470-7 – link to the publication

  2. Sperm mitochondrial dysfunction and oxidative stress as possible reasons for isolated asthenozoospermia

    Authors:
    Nowicka-Bauer K, Lepczynski A, Ozgo M, Kamieniczna M, Fraczek M, Stanski L, Olszewska M, Malcher A, Skrzypczak W, Kurpisz MK
    Academic press:
    J Physiol Pharmacol (year: 2018, volume: 69, pages: 403-417), Publisher: the Polish Physiological Society
    Status:
    Published
    DOI:
    10.26402/jpp.2018.3.05 – link to the publication

  3. Analysis of sperm chromosomes in six carriers of rare and common Robertsonian translocations

    Authors:
    Olszewska M, Wiland E, Wanowska E, Huleyuk N, Chernykh VB, Zastavna D, Kurpisz M
    Academic press:
    Postepy Hig Med Dosw (year: 2021, volume: 75, pages: 199-210), Publisher: Sciendo (De Gruyter Poland Sp. z o.o.)
    Status:
    Published
    DOI:
    10.5604/01.3001.0014.8122 – link to the publication

  4. 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:
    Int J Mol Sci (year: 2019, volume: 20, pages: pii: E5418), Publisher: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms20215418 – link to the publication

  5. Familial infertility (azoospermia and cryptozoospermia) in two brothers – carriers of t(1;7) complex chromosomal rearrangement (CCR): molecular cytogenetic analysis

    Authors:
    Olszewska M, Stokowy T, Pollock N, Huleyuk N, Georgiadis A, Yatsenko S, Zastavna D, Yatsenko AN, Kurpisz M
    Academic press:
    Int J Mol Sci (year: 2020, volume: 21, pages: 4559), Publisher: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms21124559 – link to the publication

  6. Human sperm proteins identified by 2-dimensional electrophoresis and mass spetrometry and their relevance to a transcriptomic analysis

    Authors:
    Nowicka-Bauer K, Ozgo M, Lepczynski A, Kamieniczna M, Malcher A, Skrzypczak W, Kurpisz M
    Academic press:
    Reproductive Biology (year: 2018, volume: 18, pages: 151-160), Publisher: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.repbio.2018.02.003 – link to the publication

  7. The effect of Robertsonian translocations on the intranuclear positioning of NORs (nucleolar organizing regions) in human sperm cells

    Authors:
    Wiland E, Olszewska M, Huleyuk N, Chernykh VB, Kurpisz M
    Academic press:
    Scientific Reports (year: 2019, volume: 9, pages: 2213), Publisher: Springer Nature Publishing AG
    Status:
    Published
    DOI:
    10.1038/s41598-019-38478-x – link to the publication

  8. 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, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieno-Enriquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tuttelmann F, Yatsenko AN, GEIMINI Consortium
    Academic press:
    Human Genetics (year: 2021, volume: 140, pages: 1169-1182), Publisher: Springer Nature
    Status:
    Published
    DOI:
    10.1007/s00439-021-02287-y – link to the publication

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