Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Studies on non-coding regulatory copy-number variations as a cause of bilateral limb malformations in humans

2016/22/E/NZ5/00270

Keywords:

congenital limb malformations gene regulation array CGH clinical genetics medical genetics genetic counseling etiopathogenesis of human genetic disorders Planowane nakłady w zł: Ogółem P

Descriptors:

  • NZ5_1: Etiology of human diseases
  • NZ5_3: Pathogenesis of human diseases
  • NZ2_5: Cell genetics

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):

prof. Aleksander Jamsheer 

Number of co-investigators in the project: 4

Call: SONATA BIS 6 - announced on 2016-06-15

Amount awarded: 1 810 800 PLN

Project start date (Y-m-d): 2017-03-27

Project end date (Y-m-d): 2023-03-26

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.

Equipment purchased [PL]

  1. Mikroskop (35 000 PLN)
  2. Zamrażarka niskotemperaturowa na -86 stopni C (72 000 PLN)
  3. inkubator CO2 do hodowli linii komórkowych.
  4. komputer (typu notebook) (5 000 PLN)
  5. naczynie kriogeniczne.
  6. system oczyszczania wody produkujący wodę klasy I.
  7. Elektroniczna łaźnia wodna.
  8. Wytwornica płatków lodu (17 000 PLN)
  9. Elektroporator (15 732 PLN)
  10. Wirówka wysokoobrotowa (52 000 PLN)
  11. komora UV PCR.
  12. Wirówka niskoobrotowa (10 000 PLN)
  13. system do dokumentacji żeli.

Information in the final report

  • Publication in academic press/journals (18)
  • Articles in post-conference publications (4)
  1. Genome sequencing in families with congenital limb malformations
    Authors:
    Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha K, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter M, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Stefan Mundlos, Malte Spielmann M
    Academic press:
    Human Genetics (rok: 2021, tom: 140, strony: 1229-1239), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s00439-021-02295-y - link to the publication
  2. Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
    Authors:
    Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popie, Magdalena Badura-Stronka, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer
    Academic press:
    Frontiers in Genetics (rok: 2020, tom: 11, strony: 580477), Wydawca: Frontiers Media
    Status:
    Published
    DOI:
    10.3389/fgene.2020.580477 - link to the publication
  3. A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2
    Authors:
    Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Krzysztof Szczałuba, Aleksander Jamsheer
    Academic press:
    Brith Defects Research (rok: 2020, tom: 112, strony: 652-659), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/bdr2.1676 - link to the publication
  4. Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia
    Authors:
    Ewa Hordyjewska-Kowalczyk, Anna Sowińska-Seidler, Ewelina M. Olech, Magdalena Socha, Renata Glazar, Anna Kruczek, Anna Latos-Bieleńska, Przemko Tylzanowski, Aleksander Jamsheer
    Academic press:
    Clinical Genetics (rok: 2019, tom: 96, strony: 429-438), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1111/cge.13610 - link to the publication
  5. Genotype-phenotype correlation in clubfoot (talipes equinovarus)
    Authors:
    Hordyjewska-Kowalczyk E, Nowosad K, Tylżanowski P, Jamsheer A
    Academic press:
    Journal of Medical Genetics (rok: 2022, tom: 59, strony: 209-2019), Wydawca: BMJ Journals
    Status:
    Published
    DOI:
    10.1136/jmedgenet-2021-108040 - link to the publication
  6. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
    Authors:
    Carolina Courage, Christopher B. Jackson, Marta Owczarek-Lipska, Aleksander Jamsheer, Anna Sowińska-Seidler, Małgorzata Piotrowicz, Lucjusz Jakubowski, Fanny Dallèves, Erik Riesch, John Neidhardt, Johannes R. Lemke
    Academic press:
    American Journal of Medical Genetics, Part A (rok: 2019, tom: 179, strony: 2447-2453), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/ajmg.a.61354 - link to the publication
  7. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome
    Authors:
    Socha M, Szoszkiewicz A, Simon D, Jamsheer A
    Academic press:
    Journal of Applied Genetics (rok: 2023, tom: 64, strony: 125-134), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-022-00743-7 - link to the publication
  8. Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
    Authors:
    Bukowska-Olech E, Gawliński P, Jakubiuk-Tomaszuk A, Jędrzejowska M, Obersztyn E, Piechota M, Bielska M, Jamsheer A
    Academic press:
    Orphanet Journal of Rare Diseases (rok: 2021, tom: 16, strony: 286), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1186/s13023-021-01914-1 - link to the publication
  9. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
    Authors:
    Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
    Academic press:
    Orphanet Journal of Rare Diseases (rok: 2020, tom: 14, strony: 36), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1186/s13023-020-1303-2 - link to the publication
  10. Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
    Authors:
    Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Filip Łojek, Delfina Popiel, Joanna Walczak-Sztulpa & Aleksander Jamsheer
    Academic press:
    Journal of Applied Genetics (rok: 2021, tom: 62, strony: 107-113), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-020-00591-3 - link to the publication
  11. Noncoding copy-number variations are associated with congenital limb malformation
    Authors:
    Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M.
    Academic press:
    Genetics in Medicine (rok: 2018, tom: 6, strony: 599-607), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/gim.2017.154 - link to the publication
  12. Position effects at the FGF8 locus are associated with femoral hypoplasia
    Authors:
    Socha M, Sowińska-Seidler A, Melo US, Kragesteen BK, Franke M, Heinrich V, Schöpflin R, Nagel I, Gruchy N, Mundlos S, Sreenivasan VKA, López C, Vingron M, Bukowska-Olech E, Spielmann M, Jamsheer A
    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
  13. 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: 10, strony: 593407), Wydawca: Frontiers Media
    Status:
    Published
    DOI:
    10.3389/fgene.2020.593407 - link to the publication
  14. 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 VALAT, 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
  15. Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies
    Authors:
    Bukowska-Olech E, Trzebiatowska W, Czech W, Drzymała O, Frąk P, Klarowski F, Kłusek P, Szwajkowska A, Jamsheer A
    Academic press:
    Frontiers in Genetics (rok: 2021, tom: 12, strony: 759129), Wydawca: Frontiers Media
    Status:
    Published
    DOI:
    10.3389/fgene.2021.759129 - link to the publication
  16. 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
  17. SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
    Authors:
    Bukowska-Olech E, Sowińska-Seidler A, Wierzba J, Jamsheer A
    Academic press:
    Orphanet Journal of Rare Diseases (rok: 2022, tom: 17, strony: 325), Wydawca: BMC - Springer
    Status:
    Published
    DOI:
    10.1186/s13023-022-02480-w - link to the publication
  18. The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions
    Authors:
    Potuijt JWP, Sowinska-Seidler A, Bukowska-Olech E, Nguyen P, Jankowski A, Magielsen F, Matuszewska K, van Nieuwenhoven CA, Galjaard RH, de Klein A, Jamsheer A
    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
  1. Four novel EFNB1 variants found through sequencing-based methods in female patients with craniofrontonasal syndrome
    Authors:
    Bukowska-Olech E, Jakubiuk-Tomaszuk A, Jędrzejowska M , Obersztyn E, Gawliński P, Piechota M, Bielska M, Jamsheer A
    Conference:
    European Human Genetics Conference 2021 (rok: 2021, ), Wydawca: ESHG
    Data:
    konferencja 44429
    Status:
    Published
    DOI:
    link to the publication
  2. 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:
    Sowińska-Seidler A, Socha M. Materna-Kiryluk A, Jamsheer A
    Conference:
    European Human Genetics Conference 2021 (rok: 2021, ), Wydawca: ESHG
    Data:
    konferencja 44436
    Status:
    Published
    DOI:
    link to the publication
  3. Targeted next-generation sequencing in the diagnosis of facial dysostoses
    Authors:
    Ewelina M. Olech, Delfina Popiel, Grzegorz Koczyk, Anna Materna-Kiryluk, Magdalena Badura-Stronka, Marzena Wiśniewska, Anna Latos-Bieleńska, Aleksander Jamsheer
    Conference:
    European Human Genetics Conference 2019 (rok: 2019, ), Wydawca: ESHG
    Data:
    konferencja 43631
    Status:
    Published
    DOI:
    link to the publication
  4. Diagnostic value of targeted next-generation sequencing in craniosynostosis
    Authors:
    Ewelina M. Olech, Anna Sowińska-Seidler, Delfina Popiel, Grzegorz Koczyk, Magdalena Socha, Joanna Walczak-Sztulpa, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Renata Posmyk, Robert Śmigiel, Adam Dawidziuk, Aleksander Jamsheer
    Conference:
    European Human Genetics Conference 2019 (rok: 2019, ), Wydawca: ESHG
    Data:
    konferencja 43631
    Status:
    Published
    DOI:
    link to the publication

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