Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Applying new technologies for the identification of novel genetic markers based on establishment of the Nationwide Registry for Disorders of Sex Development.

2014/13/B/NZ5/03102

Keywords:

disorders of sex development DSD gonadal determination hypogonadism gonadal dysgenesis infertility

Descriptors:

  • NZ2_1: Molecular genetics
  • NZ2_5: Cell genetics
  • NZ5_3: Pathogenesis of human diseases

Panel:

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

Host institution :

Instytut "Centrum Zdrowia Matki Polki"

woj. łódzkie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Agnieszka Gach 

Number of co-investigators in the project: 5

Call: OPUS 7 - announced on 2014-03-17

Amount awarded: 1 418 000 PLN

Project start date (Y-m-d): 2015-02-10

Project end date (Y-m-d): 2020-02-09

Project duration:: 60 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. Oprogramowanie do analizy sekwencji DNA.
  2. System do dokumentacji żeli i blotów.
  3. Oprogramowanie do analizy danych NGS.
  4. komputer do systemu dokumentacji żeli ii blotów.
  5. platforma do sekwencjonowania NGS (500 000 PLN)
  6. komputer o dużej mocy obliczeniowej (6 740 PLN)

Information in the final report

  • Publication in academic press/journals (6)
  1. New Findings in Oligogenic Inheritance of Congenital Hypogonadotropic Hypogonadism
    Authors:
    A. Gach; I. Pinkier; U. Wysocka; K. Sałacińska; D. Salachna; M. Szarras-Czapnik; A. Pietrzyk; A. Sakowicz, A. Nykel; L. Rutkowska; M. Rybak-Krzyszkowska; M. Socha; A. Jamsheer; L. Jakubowski
    Academic press:
    Archives of Medical Science (rok: 2020, tom: X, strony: 12), Wydawca: Termedia
    Status:
    Published
    DOI:
    10.5114/aoms.2020.98909 - link to the publication
  2. A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
    Authors:
    Pawel Matusik , Agnieszka Gach , Olimpia Zajdel-Cwynar , Iwona Pinkier , Grzegorz Kudela , Aneta Gawlik
    Academic press:
    International Journal of Environmental Research and Public Health (rok: 2021, tom: 18, strony: 45298), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijerph - link to the publication
  3. Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
    Authors:
    Gach A, Pinkier I, Szarras-Czapnik M, Sakowicz A, Jakubowski L
    Academic press:
    Reproductive Biology and Endocrinology (rok: 2020, tom: 18, strony: 8), Wydawca: BioMed Central Ltd (Part of Springer Nature)
    Status:
    Published
    DOI:
    10.1186/s12958-020-0568-6 - link to the publication
  4. Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions
    Authors:
    Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Aleksander Jamsheer, Ewelina Bukowska-Olech, Ilona Jaszczuk, Lucjusz Jakubowski and Agnieszka Gach
    Academic press:
    Frontiers in Genetics (rok: 2021, tom: 12, strony: 14), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fgene.2021.692978 - link to the publication
  5. Identification of gene variants in a cohort of hypogonadotropic hypogonadism: diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease
    Authors:
    A. Gach; I. Pinkier; K. Sałacińska; M. Szarras-Czapnik; D. Salachna; A.Kucińska; M. Rybak-Krzyszkowska; A. Sakowicz
    Academic press:
    Molecular and Cellular Endocrinology (rok: 2020, tom: 517, strony: 6), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.mce.2020.110968 - link to the publication
  6. Chip-Based Digital PCR Approach Provides A Sensitive and Cost-Effective Single-Day Screening Tool for Common Fetal Aneuploidies-A Proof of Concept Study
    Authors:
    Nykel A, Kaszkowiak M, Fendler W, Gach A
    Academic press:
    International Journal of Molecular Sciences (rok: 2019, tom: 4, strony: 21), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms20215486 - link to the publication

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