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 novel genetic variants associated with risk of chronic pancreatitis by whole exome sequencing.

2015/19/B/NZ5/02224

Keywords:

chronic pancreatitis genetic variants

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ5_5: Diagnostics in human diseases

Panel:

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

Host institution :

Instytut Matki i Dziecka

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Agnieszka Rygiel 

Number of co-investigators in the project: 8

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

Amount awarded: 1 337 654 PLN

Project start date (Y-m-d): 2016-09-29

Project end date (Y-m-d): 2021-09-28

Project duration:: 60 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. oprogramowanie Mutation Surveyor (20 000 PLN)
  2. zestaw komputerowy zawierający komputer o dużej wydajności do anlizy danych bioinformatycznych (10 000 PLN)

Information in the final report

  • Publication in academic press/journals (5)
  1. 2)Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.
    Authors:
    Grabarczyk AM, Oracz G, Wertheim-Tysarowska K, Kujko AA, Wejnarska K, Kolodziejczyk E, Bal J, Koziel D, Kowalik A, Gluszek S, Rygiel AM
    Academic press:
    Journal of Pediatric Gastroenterology and Nutrition (rok: 2017, tom: 65(6), strony: 652-657), Wydawca: LIPPINCOTT WILLIAMS & WILKINS
    Status:
    Published
    DOI:
    10.1097/MPG.0000000000001767. - link to the publication
  2. Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients
    Authors:
    Grzegorz Oracz , Michał Zaród , Maren Ewers , Helmut Laumen , Tomasz Gambin , Paweł Kamiński , Iwona Grabowska , Anna Drożak , Sebastian Kwiatkowski ,Katarzyna Wertheim-Tysarowska , Elwira Kołodziejczyk , Alicja Domaszewicz , Barbara Dorożko, Joanna Kosińska , Stanisław Głuszek , Dorota Kozieł, Rafał Płoski, Jonas Rosendahl , Heiko Witt , Jakub Drożak , Agnieszka Magdalena Rygiel
    Academic press:
    Pancreatology (rok: 2021, tom: 21, strony: 1434-1442), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.pan.2021.09.005 - link to the publication
  3. Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene are associated with early-onset chronic pancreatitis
    Authors:
    Agnieszka Magdalena Rygiel, Lara Sophie Unger, Emmanuelle Masson, RyotaroMatsumoto,Maren Ewers, Jian-Min Chen, Peter Bugert, Louis Buscail,TomaszGambin, Grzegorz Oracz, MariaWiniewska,Agnieszka Mianowska, Jarosław Poznanski, Joanna Kosińska, Piotr Stawinski, Rafał Płoski, Dorota Koziel, Stanisław Gluszek, Helmut Laumen, Fredrik Lindgren, Matthias Löhr, Anna Orekhova, Vinciane Rebours, Jonas Rosendahl, Shin Hamada, Fumiya Kataoka,Akira Sasaki, Yu Tanaka, Miklós Sahin-Tóth,Eszter Hegyi, Claude Férec, Atsushi Masamune,Heiko Witt
    Academic press:
    Pancreatology , Wydawca: Elsevier
    Status:
    Submitted
    DOI:
    brak - link to the publication
  4. A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis.
    Authors:
    Kujko AA, Berki DM, Oracz G, Wejnarska K, Antoniuk J, Wertheim-Tysarowska K, Kołodziejczyk E, Bal J, Sahin-Tóth M, Rygiel AM.
    Academic press:
    Gut (rok: 2017, tom: 66(9), strony: 1728-1730), Wydawca: BMJ PUBLISHING GROUP
    Status:
    Published
    DOI:
    10.1136/gutjnl-2017-313816. - link to the publication
  5. Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis
    Authors:
    Jancsó Z, Oracz G, Kujko AA, Kolodziejczyk E, Radisky ES, Rygiel AM, Sahin-Tóth M.
    Academic press:
    Frontiers in Genetics (rok: 2019, tom: 6, strony: artykuł 46 (1-7)), Wydawca: Frontiers in Genetics
    Status:
    Published
    DOI:
    10.3389/fgene.2019.00046 - link to the publication

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