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Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Search for novel genes involved in pathogenesis of combied pituitary hormone deficiency

2012/04/M/NZ5/00475

Keywords:

combined pituitary hormone deficiency cphd next generation sequencing NGS whole exome sequencing WES

Descriptors:

  • NZ5_1:
  • NZ2_2:
  • NZ2_7:

Panel:

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

Host institution :

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, Wydział Lekarski II

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Bartłomiej Marcin Budny 

Number of co-investigators in the project: 4

Call: HARMONIA 2 - announced on 2011-12-15

Amount awarded: 289 900 PLN

Project start date (Y-m-d): 2012-09-19

Project end date (Y-m-d): 2015-03-18

Project duration:: 30 months (the same as in the proposal)

Project status: Project settled

Information in the final report

  • Publication in academic press/journals (3)
  1. Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency
    Authors:
    K. Ziemnicka , B. Budny, K. Drobnik, D. Baszko-Błaszyk, M. Stajgis, K. Katulska, R. Waśko, E. Wrotkowska, R. Słomski, M. Ruchała
    Academic press:
    Journal of Applied Genetics (rok: 2015, tom: 1, strony: 45666), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-015-0328-z - link to the publication
  2. Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency
    Authors:
    Bartłomiej Budny, Katarzyna Karmelita-Katulska, Marek Stajgis, Tomasz Zemojtel, Marek Ruchała and Katarzyna Ziemnicka
    Academic press:
    International Journal of Molecular Sciences (rok: 2020, tom: 21, strony: 5757), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms21165757 - link to the publication
  3. SEMA3A and IGSF10 are novel contributors to combined pituitary hormone deficiency (CPHD)
    Authors:
    Bartlomiej Budny, Tomasz Zemojtel, Malgorzata Kaluzna, Pawel Gut, Marek Niedziela, Monika Obara-Moszynska, Barbara Rabska-Pietrzak, Katarzyna Karmelita-Katulska, Marek Stajgis, Urszula Ambroziak, Tomasz Bednarczuk, Elzbieta Wrotkowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Marek Ruchala, Katarzyna Ziemnicka
    Academic press:
    Frontiers in Endocrinology (rok: 2020, tom: 11, strony: 368), Wydawca: Frontiers Media
    Status:
    Published
    DOI:
    10.3389/fendo.2020.00368 - link to the publication

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