Projects funded by the NCN
Attempt to identify and define the functional changes of genes related to intellectual and cognitive abilities.
2012/07/B/NZ4/01764
Keywords:
X- linked intellectual disability next-generation sequencing exome sequencing intellectual disability pathogenesis
Descriptors:
- NZ4_12: Other related subjects
- NZ4_4: Pathophysiology
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 :
Instytut Matki i Dziecka
woj. mazowieckie
Principal investigator (from the host institution):
Number of co-investigators in the project: 8
Call: OPUS 4 - announced on 2012-09-15
Amount awarded: 476 100 PLN
Project start date (Y-m-d): 2013-07-08
Project end date (Y-m-d): 2016-07-07
Project duration:: 36 months (the same as in the proposal)
Project status: Project settled
Equipment purchased [PL]
- Termocykler.
- Komora do pracy sterylnej z kwasami nukleinowymi (20 000 PLN)
- Zestaw komputerowy (5 000 PLN)
Information in the final report
- Publication in academic press/journals (3)
- A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.Authors:Charzewska A, Rzońca S, Janeczko M, Nawara M, Smyk M, Bal J, Hoffman-Zacharska D.Academic press:Clinical Genetics (rok: 2014, tom: Przed drukiem., strony: Online ISSN:1399-0004), Wydawca: John Wiley & Sons LtdStatus:PublishedDOI:10.1111/cge.12528 - link to the publication
- FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.Authors:Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF.Academic press:Human Molecular Genetic (rok: 2018, tom: 15;27(4), strony: 589-600), Wydawca: Oxford AcademicStatus:PublishedDOI:10.1093/hmg/ddx426 - link to the publication
- Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.Authors:Rzońca SO, Gos M, Szopa D, Sielska-Rotblum D, Landowska A, Szpecht-Potocka A, Milewski M, Czekajska J, Abramowicz A, Obersztyn E, Maciejko D, Mazurczak T, Bal J.Academic press:Genes (Basel) (rok: 2016, tom: 2;7(9), strony: CZasopismo elektroniczne), Wydawca: MDPIStatus:PublishedDOI:10.3390/genes7090059. - link to the publication