Postzygotic de novo mutations in peadiatric neurological/neurodevelopmental dise

Postzygotic de novo mutations in peadiatric neurological/neurodevelopmental diseases.

2017/25/N/NZ4/00250

Keywords

Descriptors

NZ5_5: Diagnostyka chorób człowieka
NZ2_1: Genetyka molekularna
NZ4_7: Neurofizjologia

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

Voivodeship: mazowieckie

Other projects carried out by the institution »

Principal investigator (from the host institution)

Anna Magdalena 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: 2018-01-30
Project end date: 2022-01-29
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.

Information in the final report

Publication in academic press/journals (3)

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 (year: 2022, volume: brak, pages: 46028), Publisher: Wiley-Liss Inc

Status:
Published

DOI:
10.1002/ajmg.a.62670. – link to the publication
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 (year: 2018, volume: 94(6), pages: 581-585), Publisher: © John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

Status:
Published

DOI:
10.1111/cge.13450 – link to the publication
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. (year: 2021, volume: 11(7), pages: 1269), Publisher: MDPI

Status:
Published

DOI:
10.3390/diagnostics11071269. – link to the publication

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