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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Understanding of genetic basis of lethal lung developmental disorders in newborns with the use of next generation sequencing techniques and functional analysis of selected variants in lung-specific regulatory elements.

2019/35/D/NZ5/02896

Keywords:

lethal lung developmental disorders

Descriptors:

  • NZ5_001:
  • NZ5_005:
  • NZ2_002:

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 Farmaceutyczny

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Justyna Anna Karolak 

Number of co-investigators in the project: 5

Call: SONATA 15 - announced on 2019-09-16

Amount awarded: 1 239 540 PLN

Project start date (Y-m-d): 2020-07-22

Project end date (Y-m-d): 2025-07-21

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

Project status: Project completed

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 (10)
  1. Molecular Function and Contribution of TBX4 in Development and Disease
    Authors:
    Karolak Justyna A, Welch Carrie L, Mosimann Christian, Bzdęga Katarzyna, West James D, Montani David, Eyries Melanie, Mullen Mary P, Abman Steven H, Prapa Matina, Gräf Stefan, Morrell Nicholas W, Hemnes Aanna R, Perros Frederic, Hamid Rizwan, Logan Malcolm PO, Whitsett Jeffrey, Galambos Csaba, Stankiewicz Paweł, Chung Wendy K, Austin Eric D
    Academic press:
    American Journal of Respiratory and Critical Care Medicine (rok: 2023, tom: 207(7), strony: 855-864), Wydawca: American Thoracic Society
    Status:
    Published
    DOI:
    10.1164/rccm.202206-1039TR - link to the publication
  2. Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency
    Authors:
    Karolak Justyna A, Gambin Tomasz, Szafranski Przemyslaw, Maywald Rebecca L, Popek Edwina, Heaney Jason D, Stankiewicz Pawel
    Academic press:
    Respiratory Research (rok: 2021, tom: 22(1), strony: 212), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1186/s12931-021-01797-7 - link to the publication
  3. Rzadkie wrodzone przyczyny niewydolności oddechowej noworodka
    Authors:
    Robert Śmigiel, Katarzyna Bzdęga, Justyna A. Karolak, Tomasz Szczapa
    Academic press:
    Postępy Neonatologii (rok: 2021, tom: 3(27), strony: 37-44), Wydawca: Medicare
    Status:
    Published
  4. Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR
    Authors:
    Szafranski Przemyslaw, Gambin Tomasz, Karolak Justyna A, Popek Edwina, Stankiewicz Pawel
    Academic press:
    Human Mutation (rok: 2021, tom: 42(6), strony: 694-698), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/humu.24198 - link to the publication
  5. Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR
    Authors:
    Szafranski Przemyslaw, Gambin Tomasz, Karolak Justyna A, Popek Edwina, Stankiewicz Pawel
    Academic press:
    Human Mutation (rok: 2021, tom: 42(6), strony: 694-698), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/humu.24198 - link to the publication
  6. Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
    Authors:
    Bzdęga Katarzyna, Kutkowska-Kaźmierczak Anna, Deutsch Gail H, Plaskota Izabela, Smyk Marta, Niemiec Magdalena, Barczyk Artur, Obersztyn Ewa, Modzelewski Jan, Lipska Iwona, Stankiewicz Paweł, Gajecka Marzena, Rydzanicz Małgorzata, Płoski Rafał, Szczapa Tomasz, Karolak Justyna A
    Academic press:
    Genes (Basel) (rok: 2023, tom: 14, 563, strony: 45665), Wydawca: MDPI AG
    Status:
    Published
    DOI:
    10.3390/genes14030563 - link to the publication
  7. Phenotypic spectrum of FGF10-related disorders: a systematic review
    Authors:
    Bzdęga Katarzyna, Karolak Justyna A.
    Academic press:
    PeerJ (rok: 2022, tom: 10, strony: e14003), Wydawca: PeerJ Inc.
    Status:
    Published
    DOI:
    10.7717/peerj.14003 - link to the publication
  8. A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia
    Authors:
    Bzdęga Katarzyna, Biela Mateusz, Deutsch Gail H, Kitzmiller Joseph A, Rydzanicz Małgorzata, Płoski Rafał, Whitsett Jeffrey A, Śmigiel Robert, Karolak Justyna A
    Academic press:
    Clinical Genetics (rok: 2024, tom: 105(2), strony: 190-195), Wydawca: John Wiley & Sons Ltd
    Status:
    Published
    DOI:
    10.1111/cge.14428 - link to the publication
  9. Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
    Authors:
    Bzdęga Katarzyna, Kutkowska-Kaźmierczak Anna, Deutsch Gail H, Plaskota Izabela, Smyk Marta, Niemiec Magdalena, Barczyk Artur, Obersztyn Ewa, Modzelewski Jan, Lipska Iwona, Stankiewicz Paweł, Gajecka Marzena, Rydzanicz Małgorzata, Płoski Rafał, Szczapa Tomasz, Karolak Justyna A
    Academic press:
    Genes (Basel) (rok: 2023, tom: 14, 563, strony: 45665), Wydawca: MDPI AG
    Status:
    Published
    DOI:
    10.3390/genes14030563 - link to the publication
  10. Molecular Function and Contribution of TBX4 in Development and Disease
    Authors:
    Karolak Justyna A, Welch Carrie L, Mosimann Christian, Bzdęga Katarzyna, West James D, Montani David, Eyries Melanie, Mullen Mary P, Abman Steven H, Prapa Matina, Gräf Stefan, Morrell Nicholas W, Hemnes Aanna R, Perros Frederic, Hamid Rizwan, Logan Malcolm PO, Whitsett Jeffrey, Galambos Csaba, Stankiewicz Paweł, Chung Wendy K, Austin Eric D
    Academic press:
    American Journal of Respiratory and Critical Care Medicine (rok: 2023, tom: 207(7), strony: 855-864), Wydawca: American Thoracic Society
    Status:
    Published
    DOI:
    10.1164/rccm.202206-1039TR - link to the publication

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