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The identification of new genes related to Noonan syndrome pathogenesis - functional analysis of identified variants in the context of RAS/MAPK signalling pathway.

2013/09/B/NZ2/03164

Keywords

Descriptors

  • NZ2_1: Genetyka molekularna

Panel

NZ2 – Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution

Instytut Matki i Dziecka

Voivodeship: mazowieckie

Other projects carried out by the institution »

Principal investigator (from the host institution)

dr Monika Ewa Gos

Number of co-investigators in the project: 6

Call

OPUS 5 – announced on 2013-03-15

Amount awarded
665 330 PLN
Project start date
2014-02-20
Project end date
2017-02-19
Project duration
36 months (the same as in the proposal)
Project status
Project settled

Equipment purchased [PL]

  1. Inkubator CO2. Cost: 30 000 PLN
  2. Zestaw do elektroforezy i transferu białek. Cost: 9 000 PLN
  3. Zestaw komputerowy. Cost: 10 000 PLN

Information in the final report

Publication in academic press/journals (6)

  1. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

    Authors:
    Abramowicz A, Gos M.
    Academic press:
    Dev period Medicine (year: 2014, volume: 18, pages: 297-306), Publisher: ALUNA
    Status:
    Published
    DOI:
    link to the publication

  2. Neurofibromina - budowa i funkcje białka w kontekście patogenezy nerwiakowłókniakowatości typu I

    Authors:
    Abramowicz A, Gos M
    Academic press:
    Postępy Higieny i Medycyny Doświadczalnej (year: 2015, volume: 69, pages: 1331-1348), Publisher: Instytut Immunologii i Terapii Doświadczalnej PAN
    Status:
    Published
    DOI:
    link to the publication

  3. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

    Authors:
    Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR.
    Academic press:
    J Med Genet (year: 2015, volume: 46101, pages: 46032), Publisher: BMJ
    Status:
    Published
    DOI:
    10.1136/jmedgenet-2015-103018 – link to the publication

  4. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

    Authors:
    Bezniakow N, Gos M, Obersztyn E.
    Academic press:
    Dev Period Medicine (year: 2014, volume: 18, pages: 285-96), Publisher: ALUNA
    Status:
    Published
    DOI:
    link to the publication

  5. Splicing mutations in human genetic disorders: examples, detection, and confirmation

    Authors:
    Abramowicz A, Gos M
    Status:
    Accepted for publication

  6. A MAP2K2 Mutation as a Cause of Cardio-Facio-Cutaneous Syndrome in Infant with Severe and a Fatal Course of Disease.

    Authors:
    Gos M, Śmigiel R, Kaczan T, Landowska A, Abramowicz A, Sąsiadek MM, Bal J
    Status:
    Accepted for publication

Articles in post-conference publications (8)

  1. Rasopathies - the diagnostic opportunities and functional models

    Authors:
    Gos M
    Conference:
    Polski Kongres Genetyki (year: 2016, pages: 84), Publisher: Polskie Towarzystwo Genetyki Człowieka
    Date:
    conference 19-22.09
    Status:
    Published

  2. Targeted next generation sequencing for RASopathies diagnosis - application of functional in silico and in vitro testing to novel likely pathogenic variants

    Authors:
    A. Landowska, M. Gos, S. Rzońca, A. Abramowicz, O. Kordowska, J. Sawicka, T. Gambin, N. Bezniakow, J. Klapecki, A. Kutkowska-Kaźmierczak, J. Wierzba, R. Śmigiel, A. Jakubiuk-Tomaszuk, M. Karpiński, A. Doraczyńska-Kowalik, M. Piotrowicz, T. Chilarska, R. Ślęzak, E. Kaczorowska, M. Krygier, K. Wojciechowska, J. Pilch, R. Posmyk, E. Obersztyn, J. Bal
    Conference:
    Clinical Genomics and NGS (year: 2018, pages: 85-86), Publisher: European School of Genetic Medicine
    Date:
    conference 29.04-04.05
    Status:
    Published

  3. Noonan syndrome - the usefulness of whole exome sequencing in the identification of known and new causative genes and disease differential diagnosis.

    Authors:
    M. Gos, S. Fahiminiya, J. Klapecki, E. Obersztyn, A. Abramowicz, A. Kutkowska-Kaźmierczak, M. Piotrowicz, J. Pilch, R. Posmyk, J. Wierzba, J. Bal, J. Majewski
    Conference:
    European Society of Human Genetics Meeting (year: 2014, pages: 229), Publisher: Eur J Hum Genet
    Date:
    conference 31.05-03.06
    Status:
    Published

  4. Application of panel next generation sequencing in the diagnosis and clinical differentiation of patients with Noonan syndrome clinical suspicion.

    Authors:
    N. Bezniakow, M. Gos, A. Landowska, A. Abramowicz, O. Kordowska, S. Rzońca, J. Sawicka, T. Gambin, J. Klapecki, A. Kutkowska-Kaźmierczak, J. Wierzba, R. Śmigiel, A. Jakubiuk-Tomaszuk, M. Karpiński, A. Doraczyńska-Kowalik, M. Piotrowicz, T. Chilarska, R. Ślęzak, E. Kaczorowska, M. Krygier, K. Wojciechowska, J. Pilch, R. Posmyk, E. Obersztyn, J. Bal
    Conference:
    European Human Genetics Conference 2018 (year: 2018, pages: 0), Publisher: European Society of Human Genetics
    Date:
    conference 16-19.06
    Status:
    Published

  5. A spectrum of mutations in RIT1 gene in patients with Noonan syndrome clinical suspicion

    Authors:
    Landowska A, Gos M, Abramowicz A, Rzonca S, Wierzba J, Bezniakow N, Piotorwicz M, Posmyk R, Klapecki J, Obersztyn E, Bal J
    Conference:
    Polski Kongres Genetyki (year: 2016, pages: 212), Publisher: Polskie Towarzystwo Genetyki Człowieka
    Date:
    conference 19-22.09
    Status:
    Published

  6. Novel variants in old and new genes in patients with primary clinical diagnosis of Noonan syndrome.

    Authors:
    M. Gos, A. Landowska, A. Abramowicz, S. Rzońca, J. Sota, T. Gambin, S. Fahiminiya, J. Klapecki, N. Bezniakow, A. Kutkowska-Kaźmierczak, J. Pilch, M. Bodzioch, J. Wierzba, A. Jakubiuk-Tomaszuk, R. Śmigiel, R.Posmyk, M. Piotrowicz, E. Obersztyn, J. Majewski, J. Bal
    Conference:
    European Human Genetics Conference 2016 (year: 2016, pages: 248), Publisher: European Society of Human Genetics
    Date:
    conference 21-24.05
    Status:
    Published
    DOI:
    link to the publication

  7. Spectrum of mutations in NF1 gene in Polish population with NF1 and NFNS clinical diagnosis

    Authors:
    Abramowicz A, Gos M, Kutkowska-Kaźmierczak A, Obersztyn E, Klapecki J, Karwacki M, Bal J
    Conference:
    European School of Genetic Medicine, 28th Course of Medical Genetics (year: 2015, pages: 37-38), Publisher: European School of Genetic Medicine
    Date:
    conference 17-21.05
    Status:
    Published

  8. Sekwencjonowanie następnej generacji w badaniach podłoża molekularnego zespołu Noonan i Noonan-podobnych.

    Authors:
    Gos M, Fahiminiya S, Klapecki J, Obersztyn E, Abramowicz A, Kutkowska-Kaźmierczak, Piotrowicz M, Wierzba J, Śmigiel R, Posmyk R, Karpiński M, Pilch J, Szczałuba K, Bezniakow N, Majewski J, Bal J
    Conference:
    VII Zjazd PTGC (year: 2014, pages: 30), Publisher: Komitet Organizacyjny Konferencji
    Date:
    conference 8-10.09
    Status:
    Published

Book publications / chapters in book publications (1)

  1. wszystkie rozdziały

    Authors:
    Klapecki J, Gos M, Obersztyn E, Mazurczak T
    Book:
    Zespół Noonan - etiopatogeneza, dziedziczenie, diagnostyka i leczenie (year: 2015, volume: 1, pages: 28491), Publisher: Wydawnictwo Continuo
    Status:
    Published

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