Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

Delete all

Limb girdle muscular dystrophies (LGMD): mutations, proteins and biochemical pathways

2013/09/B/NZ4/03258

Keywords:

limb girdle muscle dystrophies genes causative mutations pathogenesis,whole exom analyses gene expression levels protein localization

Descriptors:

  • NZ4_4: Pathophysiology
  • NZ4_12: Other related subjects
  • NZ4_5: Anatomical pathology

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 Biologii Doświadczalnej im. M. Nenckiego PAN

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Maria Rędowicz 

Number of co-investigators in the project: 13

Call: OPUS 5 - announced on 2013-03-15

Amount awarded: 1 293 200 PLN

Project start date (Y-m-d): 2014-03-11

Project end date (Y-m-d): 2018-03-10

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. Zestaw do elektroforezy i szybkiego elektransferu białek (do techniki Western blot) (2 szt.) (50 000 PLN)

Information in the final report

  • Publication in academic press/journals (4)
  • Articles in post-conference publications (5)
  1. Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
    Authors:
    Jakub Piotr Fichna, Justyna Karolczak, Anna Potulska-Chromik, Przemyslaw Miszta, Mariusz Berdynski, Agata Sikorska, Slawomir Filipek, Maria Jolanta Redowicz, Anna Kaminska, Cezary Zekanowski
    Academic press:
    PLOS One (rok: 2014, tom: 9(12), strony: e115470), Wydawca: PLOS
    Status:
    Published
    DOI:
    10.1371/ - link to the publication
  2. BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome
    Authors:
    Kostera-Pruszczyk A, Suszek M, Ploski R, Franaszczyk M, Potulska-Chromik A, Pruszczyk P, Sadurska E, Karolczak J, Kaminska AM, Rędowicz MJ
    Academic press:
    Journal of Muscle Research and Cell Motility (rok: 2015, tom: 36(6), strony: 423-432), Wydawca: Springer Journals
    Status:
    Published
    DOI:
    doi: - link to the publication
  3. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
    Authors:
    Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C.
    Academic press:
    Human Genomics (rok: 2018, tom: 12, strony: 34), Wydawca: BioMed Central
    Status:
    Published
    DOI:
    10.1186/s40246-018-0167-1 - link to the publication
  4. ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the clinical phenotype and protein structure.
    Authors:
    58.Jarmula A, Łusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Töpf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ. (2019) 9:11533.
    Academic press:
    Scientific Reports (rok: 2019, tom: 9:11533, strony: 45308), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/s41598-019-47849-3 - link to the publication
  1. Charakterystyka polskich pacjentów z dystrofią obręczowo-kończynową typu 2I (LGMD2I) – korelacje fenotypowo-genotypowe na podstawie wyników badania metodą sekwencjonowania całego eksomu
    Authors:
    Anna Macias, Jakub Fichna, Michał Korostyński, Marcin Piechota, Anna Potulska-Chromik, Maria Jolanta Rędowicz, Anna M. Kamińska, Anna Kostera-Pruszczyk
    Conference:
    XXIII Zjazdu Polskiego Towarzystwa Neurologicznego w Gdańsku (rok: 2017, ), Wydawca: Polskie Towarzystwo Neurologiczne
    Data:
    konferencja 11–14 października 2017 r.
    Status:
    Published
  2. Whole exome sequencing strategy in studies on limbgirdle muscular dystrophy and myofibrillar myopathy
    Authors:
    Fichna JP, Macias A, Maruszak A, Potulska-Chromik A, Kaminska A, Zekanowski C
    Conference:
    44th European Muscle Conference (rok: 2015, ), Wydawca: Springer Journaks
    Data:
    konferencja 21-25 września
    Status:
    Published
    DOI:
    link to the publication
  3. DYSF- and ANO5-related limb girdle dystrophies: genetic, clinical and biochemical diversity in Polish patients
    Authors:
    Suszek M, Fichna J, Macias A, Zekanowski C, Kaminska AM, Rędowicz MJ
    Conference:
    44th European Muscle Conference (rok: 2015, ), Wydawca: Springer Journals
    Data:
    konferencja 21-25 września
    Status:
    Published
    DOI:
    link to the publication
  4. FKRP Gene Mutations and Candidate Disease-Modifying Genes in Polish Patients With Limb-Girdle Muscular Dystrophy – Results of Whole Exome Sequencing Study
    Authors:
    Anna Macias, Jakub Fichna, Michał Korostyński, Marcin Piechota, Anna Potulska Chromik, Maria J. Rędowicz, Cezary Zekanowski, Anna M. Kaminska, Anna Kostera Pruszczyk
    Conference:
    13th International Congress of Polish Neuroscience Society (rok: 2017, ), Wydawca: Polish Neuroscience Society
    Data:
    konferencja 28-31 sierpnia 2017 r
    Status:
    Published
    DOI:
    link to the publication
  5. Limb girdle muscle dystrophies: genetic, clinical, and biochemical diversity in Polish patients
    Authors:
    Rędowicz MJ
    Conference:
    XXXII Conference on Embryology Plants, Animals, Humans (rok: 2016, ), Wydawca: The Official Publication of the Biological Commission of the Polish Academy of Sciences - Cracow Branch and the Jagiellonian University
    Data:
    konferencja 18-21 maja 2016
    Status:
    Published
    DOI:
    link to the publication

O Narodowym Centrum Nauki

Finansowanie nauki

Współpraca zagraniczna

Centrum prasowe

Deklaracja dostępności
Przetwarzanie danych osobowych
Polityka cookies

Partnerzy