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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Postzygotic de novo mutations in peadiatric neurological/neurodevelopmental diseases.

2017/25/N/NZ4/00250

Keywords:

de novo mutations germline post-zygotic WES somatic mosaicism pediatric neurological/neurodevelopmental disorders ectoderm

Descriptors:

  • NZ5_5: Diagnostics in human diseases
  • NZ2_1: Molecular genetics
  • NZ4_7: Neurophysiology

Panel:

NZ4 - Biology of tissues, organs and organisms: morphology and functions of animal's and human's systems, organs and organisms, experimental medicine, basics of neurology

Host institution :

Warszawski Uniwersytet Medyczny, Wydział Lekarski

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Anna Walczak 

Number of co-investigators in the project: 2

Call: PRELUDIUM 13 - announced on 2017-03-15

Amount awarded: 179 760 PLN

Project start date (Y-m-d): 2018-01-30

Project end date (Y-m-d): 2022-01-29

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Project description

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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 (3)
  1. Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
    Authors:
    Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Rafał Płoski
    Academic press:
    Diagnostics. (rok: 2021, tom: 11(7), strony: 1269), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/diagnostics11071269. - link to the publication
  2. Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis
    Authors:
    Małgorzata Rydzanicz, Wojciech Glinkowski, Anna Walczak, Agnieszka Koppolu, Grażyna Kostrzewa, Piotr Gasperowicz, Agnieszka Pollak, Piotr Stawiński, Rafał Płoski
    Academic press:
    Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis (rok: 2022, tom: brak, strony: 45297), Wydawca: Wiley-Liss Inc
    Status:
    Published
    DOI:
    10.1002/ajmg.a.62670. - link to the publication
  3. Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines
    Authors:
    Krzysztof Szczałuba; Joanna J. Chmielewska; Olga Sokolowska; Małgorzata Rydzanicz; Krystyna Szymańska; Wojciech Feleszko; Paweł Włodarski; Anna Biernacka; Victor Murcia Pienkowski; Anna Walczak; Elżbieta Bargeł; Katarzyna Królewczyk; Agata Nowacka; Piotr Stawiński; Dominika Nowis Magdalena Dziembowska; Rafał Płoski
    Academic press:
    Clinical Genetics (rok: 2018, tom: 94(6), strony: 581-585), Wydawca: © John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
    Status:
    Published
    DOI:
    10.1111/cge.13450 - link to the publication

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