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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Searching for markers of disease progression in patients with Alstrom and Bardet-Biedl syndromes.

2018/29/B/NZ5/00330

Keywords:

Alstrom syndrome Bardet-Biedl syndrome obesity retinal degeneration markers

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ5_5: Diagnostics in human diseases
  • NZ4_10: Neuroimaging and computational neuroscience

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

woj. łódzkie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Agnieszka Zmysłowska 

Number of co-investigators in the project: 7

Call: OPUS 15 - announced on 2018-03-15

Amount awarded: 909 500 PLN

Project start date (Y-m-d): 2019-02-25

Project end date (Y-m-d): 2022-12-24

Project duration:: 46 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. Urządzenie wielofunkcyjne.
  2. Komputer wraz z oprogramowaniem (6 500 PLN)

Information in the final report

  • Publication in academic press/journals (7)
  1. Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes
    Authors:
    A Zmysłowska 1, P Jakiel 2, K Gadzalska 2, A Majos 3, T Płoszaj 2, I Ben-Skowronek 4, G Deja 5, B Glowinska-Olszewska 6, P Jarosz-Chobot 5, B Klonowska 7, I Kowalska 8, W Mlynarski 9, M Mysliwiec 10, J Nazim 11, A Noczynska 12, K Robak-Kontna 13, E Skala-Zamorowska 5, B Skowronska 14, A Szadkowska 15, A Szypowska 16, M Walczak 17, M Borowiec 2
    Academic press:
    Diabetes Res Clin Pract . (rok: 2022, tom: 183, strony: 109154), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.diabres.2021.109154. - 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 P1, Michalak A1,2, Małachowska B1, Młudzik P3, Antosik K3, Hogendorf A2, Zmysłowska A2, Borowiec M3, Młynarski W4, Fendler W
    Academic press:
    Pediatric Diabetes (rok: 2019, tom: 3, strony: 45300), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1111/pedi.12959. - link to the publication
  3. Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters
    Authors:
    Zmyslowska A, Smyczynska U, Stanczak M, Jeziorny K, Szadkowska A, Fendler W, Borowiec M.
    Academic press:
    Front Endocrinol (Lausanne). (rok: 2022, tom: 13, strony: 1057056), Wydawca: Frontiers Media
    Status:
    Published
    DOI:
    10.3389/fendo.2022.1057056. - link to the publication
  4. Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
    Authors:
    Jeziorny K, Antosik K, Jakiel P, Młynarski W, Borowiec M, Zmysłowska A.
    Academic press:
    Genes (rok: 2020, tom: 11, strony: 1283-1292), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes11111283. - link to the publication
  5. Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy
    Authors:
    Jeziorny K, Zmyslowska-Polakowska E, Wyka K, Pyziak-Skupień A, Borowiec M, Szadkowska A, Zmysłowska A.
    Academic press:
    Bone Reports (rok: 2022, tom: 17, strony: 101600), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.bonr.2022.101600. - link to the publication
  6. Proteomic and Transcriptomic Landscapes of Alström and Bardet-Biedl Syndromes
    Authors:
    Smyczynska U, Stanczak M, Kuljanin M, Włodarczyk A, Stoczynska-Fidelus E, Taha J, Pawlik B, Borowiec M, Mancias JD, Mlynarski W, Rieske P, Fendler W, Zmysłowska A.
    Academic press:
    Genes (Basel) (rok: 2022, tom: 13, strony: 2370), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes13122370. - link to the publication
  7. Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing
    Authors:
    Tomasz Płoszaj 1, Karolina Antosik 2, Paulina Jakiel 2, Agnieszka Zmysłowska 2, Maciej Borowiec 2
    Academic press:
    Endocrine (rok: 2021, tom: 73, strony: 752-757), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s12020-021-02753-7. - link to the publication

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