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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Identification of genes controlling brain development through genomic analysis of patients with microcephaly

2015/19/B/NZ2/01824

Keywords:

microcephaly development of the central nervous system

Descriptors:

  • NZ1_1: Molecular biology
  • NZ2_1: Molecular genetics
  • NZ3_9: Organogenesis

Panel:

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

Host institution :

Instytut Matki i Dziecka

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Wojciech Wiszniewski 

Number of co-investigators in the project: 10

Call: OPUS 10 - announced on 2015-09-15

Amount awarded: 1 539 596 PLN

Project start date (Y-m-d): 2016-09-19

Project end date (Y-m-d): 2020-09-18

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.

Equipment purchased [PL]

  1. Termocykler.
  2. Zestaw komputerowy (14 000 PLN)
  3. Kamera do stereomikroskopii fluorescencyjnej (20 000 PLN)
  4. Transiluminator do wycinania prążków z żeli agarozowych (3 936 PLN)
  5. Termocykler (32 500 PLN)
  6. Zestaw do hodowli Danio rerio (30 000 PLN)

Information in the final report

  • Publication in academic press/journals (12)
  1. Comprehensive genomic analysis of patients with disorders of cerebral cortical development
    Authors:
    Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska , Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Hande Coban Akdemir, Tamar Harel, Ender Karaca, Marta Jurek, Katarzyna Sobecka, Beata Nowakowska, Malgorzata Kruk, Iwona Terczynska, Alicja Goszczanska-Ciuchta, Mariola Rudzka-Dybala, Ewa Jamroz, Antoni Pyrkosz, Anna Jakubiuk-Tomaszuk, Piotr Iwanowski, Dorota Gieruszczak-Bialek, Malgorzata Piotrowicz, Maria Sasiadek, Iwona Kochanowska, Barbara Gurda, Barbara Steinborn, Mateusz Dawidziuk, Jennifer Castaneda, Pawel Wlasienko, Natalia Bezniakow, Shalini N. Jhangiani, Dorota Hoffman-Zacharska, Jerzy Bal, Elzbieta Szczepanik, Eric Boerwinkle, Richard A. Gibbs and James R. Lupski
    Academic press:
    European Journal of Human Genetics (rok: 2018, tom: -, strony: -), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1038/s41431-018-0137-z - link to the publication
  2. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
    Authors:
    Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R; Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P.
    Academic press:
    American Journal of Human Genetics (rok: 2019, tom: 105(5), strony: 1005-1015), Wydawca: Cell Press
    Status:
    Published
    DOI:
    10.1016/j.ajhg.2019.09.017 - link to the publication
  3. Phenotype expansion and development in Kosaki Overgrowth Syndrome
    Authors:
    Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Akdemir ZHC, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M.
    Academic press:
    Clinical Genetics (rok: 2018, tom: 93, strony: 919-924), Wydawca: John Wiley & Sons Ltd
    Status:
    Published
    DOI:
    10.1111/cge.13192 - link to the publication
  4. De novo ACTG1 variant expands phenotype and genotype of partial deafness and Baraitser-Winter syndrome
    Authors:
    Dawidziuk Mateusz, Kutkowska-Kazmierczak Anna, Bukowska-Olech Ewelina, Jurek Marta, Kalka Ewa, Guilbride D. Lys, Furmanek Mariusz Ireneusz, Bekiesinska-Figatowska Monika, Bal Jerzy, Gawlinski Pawel
    Academic press:
    International Journal of Molecular Sciences (rok: 2022, tom: 23, strony: 45306), Wydawca: MPDI
    Status:
    Published
    DOI:
    10.3390/ijms23020692 - link to the publication
  5. Further delineation of phenotype and genotype of primary microcephaly syndrome with cortical malformations associated with mutations in the WDR62 gene
    Authors:
    Slezak R, Smigiel R, Obersztyn E, Pollak A, Dawidziuk M, Wiszniewski W, Rydzanicz M, Ploski R, Gawlinski P
    Academic press:
    Genes (rok: 2021, tom: 12, strony: 45302), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes12040594 - link to the publication
  6. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
    Authors:
    Kodani A, Kenny C, Lai A, Gonzalez DM, Stronge E, Sejourne GM, Isacco L, Partlow JN, O'Donnell A, McWalter K, Byrne AB, Barkovich AJ, Yang E, Hill RS, Gawlinski P, Wiszniewski W, Cohen JS, Fatemi SA, Baranano KW, Sahin M, Vossler DG, Yuskaitis CJ, Walsh CA.
    Academic press:
    Neuron (rok: 2020, tom: 106, strony: 45301), Wydawca: Cell Press
    Status:
    Published
    DOI:
    10.1016/j.neuron.2020.01.030. - link to the publication
  7. 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, Claes K, Piechota M, Jamsheer A.
    Academic press:
    Orphanet Journal of Rare Diseases (rok: 2021, tom: 16, strony: 45300), Wydawca: BioMed Central
    Status:
    Published
    DOI:
    10.1186/s13023-021-01914-1 - link to the publication
  8. Genomic and physiological analyses of the zebrafish atrioventricular canal reveal molecular building blocks of the secondary pacemaker region
    Authors:
    Karim Abu Nahia, Maciej Migdał, T. Alexander Quinn, Poon Kar‑Lai, Maciej Łapiński, Agata Sulej, Liu Jiandong. Shamba S. Mondal, Michał Pawlak, Łukasz Bugajski, Katarzyna Piwocka, Thomas Brand, Peter Kohl, Vladimir Korzh, Cecilia Winata
    Academic press:
    Cellular and Molecular Life Sciences (rok: 2021, tom: 78, strony: 6669–6687), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s00018-021-03939-y - link to the publication
  9. A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
    Authors:
    Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
    Academic press:
    J Clin Res Pediatr Endocrinol (rok: 2018, tom: 11, strony: 319-326), Wydawca: Galenos Publishing House
    Status:
    Published
    DOI:
    10.4274/jcrpe.0227 - link to the publication
  10. Exome sequencing reveals gene mutations landscape in patients with congenital microcephaly
    Authors:
    Dawidziuk Mateusz, Gambin Tomasz, Bukowska-Olech Ewelina, Antczak-Marach Dorota, Badura-Stronka Magdalena, Budzynska Edyta, Castaneda Jennifer, Chilarska Tatiana, Czyzyk Elzbieta, Eckersdorf-Mastalerz Anna, Fijak-Moskal, Gieruszczak-Bialek Dorota, Glodek-Brzozowska, Goszczanska-Ciuchta Alicja, Grzeszczykowska-Podymniak Malgorzata, Gurda Barbara, Jakubiuk-Tomaszuk Anna, Jamroz Ewa, Janeczko Magdalena, Jedlinska-Pijanowska Dominika, Jurek Marta, Karolewska Dagmara, Kazmierczak Adela, Kleist Teresa, Kochanowska Iwona, Krajewska-Walasek Małgorzata, Kufel Katarzyna, Kutkowska-Kazimierczak Anna, Lipiec Agata, Maksym-Gasiorek Dorota, Materna-Kiryluk Anna, Mazurkiewicz Hanna, Milewski Michał, Pavina-Guglas Tatsiana, Pietrzyk Aleksandra, Posmyk Renata, Pyrkosz Antoni, Rudzka Mariola, Slezak Ryszard, Wisniewska Marzena, Zalewska-Miszkurka Zofia, Obersztyn Ewa, Bekiesinska-Figatowska Monika, Gawlinski Pawel, Wiszniewski Wojciech.
    Academic press:
    Genes (rok: 2021, tom: 12, strony: 45308), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes12122014 - link to the publication
  11. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
    Authors:
    Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.
    Academic press:
    American Journal of Human Genetics (rok: 2019, tom: 105, strony: 689-705), Wydawca: Cell Press
    Status:
    Published
    DOI:
    10.1016/j.ajhg.2019.08.006 - link to the publication
  12. The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (p.Gln1981*)
    Authors:
    Dawidziuk M, Kutkowska-Kaźmierczak A, Gawliński P, Wiszniewski W, Gos M, Stawiński P, Rydzanicz M, Kosińska J, Własienko P, Malinowska-Kordowska O, Bartnik-Głaska M, Bernaciak J, Szczałuba K, Bekiesińska-Figatowska M, Płoski R, Bal J, Rzońca-Niewczas OS.
    Academic press:
    Journal of Mother and Child (rok: 2020, tom: 24, strony: 32-35), Wydawca: Sciendo
    Status:
    Published
    DOI:
    10.34763/jmotherandchild.20202403.2021.d-20-00003 - link to the publication

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