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Searching for markers of disease progression in patients with Wolfram syndrome

2014/15/B/NZ5/01579

Keywords

Descriptors

  • NZ5_3: Patogeneza chorób człowieka
  • NZ5_5: Diagnostyka chorób człowieka
  • NZ4_10: Neuroobrazowanie

Panel

NZ5 – Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution

Uniwersytet Medyczny w Łodzi, Wydział Lekarski

Voivodeship: łódzkie

Other projects carried out by the institution »

Principal investigator (from the host institution)

dr Agnieszka Zmysłowska

Number of co-investigators in the project: 7

Call

OPUS 8 – announced on 2014-09-15

Amount awarded
949 400 PLN
Project start date
2015-07-20
Project end date
2018-07-19
Project duration
36 months (the same as in the proposal)
Project status
Project settled

Equipment purchased [PL]

  1. Inkubator z wnętrzem stalowym z dozowaniem CO2, z reduktorem CO2, z kosztami dostawy i szkolenia uzytkowników.. Cost: 50 000 PLN
  2. Komputer wraz z oprogramowaniem. Cost: 5 000 PLN

Information in the final report

Publication in academic press/journals (7)

  1. Corneal abnormalities are novel clinical feature in Wolfram syndrome.

    Authors:
    Waszczykowska A, Zmysłowska A, Braun M, Zielonka E, Ivask M, Koks S, Jurowski P, Młynarski W.
    Academic press:
    American Journal of Ophtalmology (year: 2020, volume: 23, pages: S0002-9394(20)30180-X.), Publisher: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.ajo.2020.04.012. – link to the publication

  2. A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

    Authors:
    Sztromwasser P, Michalak A, Małachowska B, Młudzik P, Antosik K, Hogendorf A, Zmysłowska A, Borowiec M, Młynarski W, Fendler W.
    Academic press:
    Pediatric Diabetes (year: 2020, volume: 1, pages: 46031), Publisher: Wiley
    Status:
    Published
    DOI:
    10.1111/pedi.12959 – link to the publication

  3. Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome.

    Authors:
    Zmyslowska A, Ciborowski M, Borowiec M, Fendler W, Pietrowska K, Parfieniuk E, Antosik K, Pyziak A, Waszczykowska A, Kretowski A, Mlynarski W.
    Academic press:
    J Proteome Res. (year: 2017, volume: 16(11), pages: 4000-4008), Publisher: ACS Publications
    Status:
    Published
    DOI:
    10.1021/acs.jproteome.7b00401. – link to the publication

  4. Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome.

    Authors:
    Zmyslowska A, Fendler W, Waszczykowska A, Niwald A, Borowiec M, Jurowski P, Mlynarski W.
    Academic press:
    Acta Diabetologica (year: 2017, volume: 54(11), pages: 1019-1024), Publisher: Springer
    Status:
    Published
    DOI:
    10.1007/s00592-017-1042-6. – link to the publication

  5. Optical coherence tomography and magnetic resonance imaging visual pathway evaluation in Wolfram syndrome

    Authors:
    Agnieszka Zmyslowska, Arleta Waszczykowska, Dobromila Baranska, Konrad Stawiski, Maciej Borowiec, Piotr Jurowski, Wojciech Fendler, Wojciech Mlynarski
    Academic press:
    Developmental Medicine & Child Neurology (year: 2019, volume: 61, pages: 359-365), Publisher: Wiley
    Status:
    Published
    DOI:
    10.1111/dmcn.14040 – link to the publication

  6. Multiple Retinal Anomalies in Wfs1-Deficient Mice

    Authors:
    Waszczykowska A, Zmysłowska A, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W.
    Academic press:
    Diagnostics (year: 2020, volume: 10, pages: E607), Publisher: MDPI
    Status:
    Published
    DOI:
    10.3390/diagnostics10090607. – link to the publication

  7. SERUM MICRORNA AS INDICATORS OF WOLFRAM SYNDROME'S PROGRESSION IN NEUROIMAGING STUDIES

    Authors:
    Zmyslowska A, Stanczak M, Nowicka Z, Waszczykowska A, Baranska D, Fendler W, Borowiec M, Mlynarski W.
    Status:
    Accepted for publication

Articles in post-conference publications (3)

  1. Searching for causal treatment in patients with Wolfram syndrome.

    Authors:
    A. Zmyslowska1, M. Borowiec2, E. Polakowska1, A. Lesiak3, W. Mlynarski
    Conference:
    ESHG Conference (year: 2018, pages: 1), Publisher: ESHG
    Date:
    conference czerwiec 2018
    Status:
    Published

  2. Ocena drogi wzrokowej u pacjentów z zespołem Wolframa jako sposób na zdefiniowanie markerów progresji choroby

    Authors:
    A. Zmyslowska, A. Waszczykowska, W. Fendler, D. Baranska, M. Borowiec, M. Szymanska, P. Jurowski, W. Mlynarski
    Conference:
    Konferenmcja Polskiego Towarzystwa Endokrynologii i Diabetologii Dziecięcej (year: 2017, pages: 46024), Publisher: PTEiDD
    Date:
    conference Rzeszów 2017
    Status:
    Published

  3. Zmiany w narządzie wzroku u chorych z zespołem Wolframa

    Authors:
    A. Waszczykowska, A. Zmyslowska, W. Mlynarski, P. Jurowski
    Conference:
    Zjazd okulistyczny w Katowicach (year: 2018, pages: 1), Publisher: PTO
    Date:
    conference 2018
    Status:
    Published

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