Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

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Determining long-range chromatin interactions in patients affected by congenital limb malformations by means of 4C-seq approach (Circularized Chromosomal Conformation Capture sequencing)

2016/21/D/NZ5/00064

Keywords:

congenital skeletal malformations clinical genetics medical genetics 4C-seq circularized chromosomal conformation capture regulatory sequence enhancer topologically associated domain etiopathogenesis of human genetic disorders genetic basis

Descriptors:

  • NZ5_1:
  • NZ5_3:
  • NZ2_2:

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 Lekarski

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Anna Sowińska-Seidler 

Number of co-investigators in the project: 4

Call: SONATA 11 - announced on 2016-03-15

Amount awarded: 763 600 PLN

Project start date (Y-m-d): 2017-01-18

Project end date (Y-m-d): 2023-01-17

Project duration:: 72 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 (7)
  • Articles in post-conference publications (5)
  1. The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions
    Authors:
    Jacob W P Potuijt*, Anna Sowińska-Seidler*, Ewelina Bukowska-Olech, Picard Nguyen, Aleksander Jankowski, Frank Magielsen, Karolina Matuszewska, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Annelies de Klein, Aleksander Jamsheer; *równy wkład autorów
    Academic press:
    Molecular Genetics and Genomics (rok: 2022, tom: 297, strony: 1343-1352), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s00438-022-01921-2 - link to the publication
  2. The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
    Authors:
    Anna Sowińska-Seidler, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer
    Academic press:
    Frontiers in Genetics (rok: 2020, tom: 11, strony: 45666), Wydawca: Frontiers Media S.A.
    Status:
    Published
    DOI:
    10.3389/fgene.2020.593407 - link to the publication
  3. Position effects at the FGF8 locus are associated with femoral hypoplasia
    Authors:
    Magdalena Socha*, Anna Sowińska-Seidler*, Uirá Souto Melo, Bjørt K Kragesteen, Martin Franke, Verena Heinrich, Robert Schöpflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K A Sreenivasan, Cristina López, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, Aleksander Jamsheer; *równy wkład autorów
    Academic press:
    American Journal of Human Genetics (rok: 2021, tom: 108, strony: 1725-1734), Wydawca: Cell Press
    Status:
    Published
    DOI:
    10.1016/j.ajhg.2021.08.001 - link to the publication
  4. A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer
    Academic press:
    Frontiers in Molecular Biosciences (rok: 2023, tom: 10, strony: 45670), Wydawca: Frontiers Media S.A.
    Status:
    Published
    DOI:
    10.3389/fmolb.2023.1250714 - link to the publication
  5. Duplication of 10q24 locus: broadening the clinical and radiological spectrum
    Authors:
    Muriel HOLDER-ESPINASSE*, Aleksander JAMSHEER*, Fabienne ESCANDE, Joris ANDRIEUX, Florence PETIT, Anna SOWINSKA-SEIDLER, Magdalena SOCHA, Anna JAKUBIUK-TOMASZUK, Marion GERARD, Michèle MATHIEU-DRAMARD, Valérie CORMIER-DAIRE, Alain VERLOES, Annick TOUTAIN, Ghislaine PLESSIS, Philippe JONVEAUX, Clarisse BAUMANN, Albert DAVID, Chantal FARRA, Estelle COLIN, Sébastien JACQUEMONT, Annick ROSSI, Sahar MANSOUR, Neeti GHALI, Anne MONCLA, Nayana LAHIRI, Jane HURST, Elena POLLINA, Christine PATCH, Anne-Sylvie VALAT2, Aurélie MEZEL, Philippe BOURGEOT, Sylvie MANOUVRIER-HANU
    Academic press:
    European Journal of Human Genetics (rok: 2019, tom: 27, strony: 525-534), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/s41431-018-0326-9 - link to the publication
  6. Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
    Authors:
    Anna Sowińska-Seidler, Ewelina M. Olech, Magdalena Socha, Dawid Larysz, Aleksander Jamsheer
    Academic press:
    Journal of Applied Genetics (rok: 2018, tom: 59, strony: 281-289), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-018-0447-4 - link to the publication
  7. Duplication of 10q24 locus: broadening the clinical and radiological spectrum
    Authors:
    Muriel HOLDER-ESPINASSE*, Aleksander JAMSHEER*, Fabienne ESCANDE, Joris ANDRIEUX, Florence PETIT, Anna SOWINSKA-SEIDLER, Magdalena SOCHA, Anna JAKUBIUK-TOMASZUK, Marion GERARD, Michèle MATHIEU-DRAMARD, Valérie CORMIER-DAIRE, Alain VERLOES, Annick TOUTAIN, Ghislaine PLESSIS, Philippe JONVEAUX, Clarisse BAUMANN, Albert DAVID, Chantal FARRA, Estelle COLIN, Sébastien JACQUEMONT, Annick ROSSI, Sahar MANSOUR, Neeti GHALI, Anne MONCLA, Nayana LAHIRI, Jane HURST, Elena POLLINA, Christine PATCH, Anne-Sylvie VALAT2, Aurélie MEZEL, Philippe BOURGEOT, Sylvie MANOUVRIER-HANU
    Academic press:
    European Journal of Human Genetics (rok: 2019, tom: 27, strony: 525-534), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/s41431-018-0326-9 - link to the publication
  1. Genotype-phenotype correlation of aberrations at 7q21.2-q21.3 locus in patients affected with isolated or syndromic form of split-hand/foot malformation
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Anna Materna-Kiryluk, Aleksander Jamsheer
    Conference:
    ESHG 2021 - Virtual Conference (rok: 2021, ), Wydawca: The European Society of Human Genetics
    Data:
    konferencja 28-31.08.2021
    Status:
    Published
  2. Pierwszy przypadek pacjenta prezentującego cechy zespołów SHFM1 oraz BAGOS wynikające z translokacji wzajemnej t(7;12)(q21.3;q21.2)
    Authors:
    Anna Sowińska-Seidler, Anna Materna-Kiryluk, Anna Szoszkiewicz, Aleksander Jamsheer
    Conference:
    XI Zjazd Polskiego Towarzystwa Genetyki Człowieka (rok: 2023, ), Wydawca: Polskie Towarzystwo Genetyki Człowieka
    Data:
    konferencja 3-6.09.2023
    Status:
    Published
  3. The effect of genomic structural variants on long-range chromatin interactions in patients affected by congenital limb malformations
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Ewelina M. Olech, Aleksander Jamsheer
    Conference:
    The genome in three dimensions (rok: 2019, ), Wydawca: EMBO Press, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    Data:
    konferencja 43605
    Status:
    Published
  4. Different types of aberrations at 7q21.2-q21.3 locus in patients affected with isolated or syndromic form of split-hand/foot malformation – genotype-phenotype correlation
    Authors:
    Sowińska-Seidler Anna, Socha Magdalena, Materna-Kiryluk Anna, Jamsheer Aleksander
    Conference:
    Health and education outcomes of children across Europe with congenital anomalies (rok: 2022, ), Wydawca: Wydawnictwo Naukowe UMP, Poznań
    Data:
    konferencja 07-08.04.2022
    Status:
    Published
  5. Deletions and complex rearrangements at the 7q21.2-q21.3 locus result in a variable expression of split hand/foot malformation type 1
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Anna Materna-Kiryluk, Aleksander Jamsheer
    Conference:
    VI Polski Kongres Genetyki (rok: 2022, ), Wydawca: Jordan Group
    Data:
    konferencja 27-30.06.2022
    Status:
    Published

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