Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Agnieszka Magdalena Rygiel"'
Autor:
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Bartłomiej Gielniewski, Bartosz Wojtaś, Alicja Szabelska-Beręsewicz, Joanna Zyprych-Walczak, Adriana Mika, Andrzej Tysarowski, Katarzyna Duk, Agnieszka Magdalena Rygiel, Katarzyna Niepokój, Katarzyna Woźniak, Cezary Kowalewski, Jolanta Wierzba, Aleksandra Jezela-Stanek
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 11, p 9459 (2023)
Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations. The pathogenesis of the disease is not yet fully understood. So far, only 10 pathogenic variants in LORICRIN have been described, with all of the
Externí odkaz:
https://doaj.org/article/80ddb96cbb854d26996472ff6ff7563e
Autor:
Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis i
Externí odkaz:
https://doaj.org/article/c18b3b663ef74783a5974b86ec2c54f6
Autor:
Amanda Takáts, Gergő Berke, Noémi Gede, Balázs Csaba Németh, Heiko Witt, Stanisław Głuszek, Agnieszka Magdalena Rygiel, Péter Hegyi, Miklós Sahin-Tóth, Eszter Hegyi
Publikováno v:
PLoS ONE, Vol 17, Iss 5, p e0268859 (2022)
The digestive protease chymotrypsin C (CTRC) protects the pancreas against pancreatitis by degrading potentially harmful trypsinogen. Loss-of-function genetic variants in CTRC increase risk for chronic pancreatitis (CP) with variable effect size, as
Externí odkaz:
https://doaj.org/article/8184d0267c1e4a1ca1cf5df61bbc19f0
Autor:
Zsanett Jancsó, Grzegorz Oracz, Aleksandra Anna Kujko, Eliwira Kolodziejczyk, Evette S. Radisky, Agnieszka Magdalena Rygiel, Miklós Sahin-Tóth
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Mutations in the PRSS1 (serine protease 1) gene encoding human cationic trypsinogen cause hereditary pancreatitis or may be associated with sporadic chronic pancreatitis. The mutations exert their pathogenic effect either by increasing intra-pancreat
Externí odkaz:
https://doaj.org/article/df4d6f77034c4e93a3517557130b8ac0
Autor:
Andrea Tóth, Alexandra Demcsák, Florence Zankl, Grzegorz Oracz, Lara Sophie Unger, Peter Bugert, Helmut Laumen, Andrea Párniczky, Péter Hegyi, Jonas Rosendahl, Tomasz Gambin, Rafał Płoski, Dorota Koziel, Stanisław Gluszek, Fredrik Lindgren, J. Matthias Löhr, Miklós Sahin-Tóth, Heiko Witt, Agnieszka Magdalena Rygiel, Maren Ewers, Eszter Hegyi
Publikováno v:
Pancreatology. 22:713-718
Genetic alterations in digestive enzymes have been associated with chronic pancreatitis (CP). Recently, chymotrypsin like elastase 3B (CELA3B) emerged as a novel risk gene. Thus, we evaluated CELA3B in two European cohorts with CP.We analyzed all 8 C
Autor:
Agnieszka Magdalena Rygiel, Lara Sophie Unger, Franziska Lena Sörgel, Emmanuelle Masson, Ryotaro Matsumoto, Maren Ewers, Jian-Min Chen, Peter Bugert, Louis Buscail, Tomasz Gambin, Grzegorz Oracz, Maria Winiewska-Szajewska, Agnieszka Mianowska, Jarosław Poznanski, Joanna Kosińska, Piotr Stawinski, Rafał Płoski, Dorota Koziel, Stanisław Gluszek, Helmut Laumen, Fredrik Lindgren, J. Matthias Löhr, Anna Orekhova, Vinciane Rebours, Jonas Rosendahl, Andrea Párniczky, Péter Hegyi, Akira Sasaki, Fumiya Kataoka, Yu Tanaka, Shin Hamada, Miklós Sahin-Tóth, Eszter Hegyi, Claude Férec, Atsushi Masamune, Heiko Witt
Publikováno v:
Pancreatology
OBJECTIVE: Non-alcoholic chronic pancreatitis (NACP) frequently develops in the setting of genetic susceptibility associated with alterations in genes that are highly expressed in the pancreas. However, the genetic basis of NACP remains unresolved in
Autor:
Jonas Rosendahl, Maren Ewers, Tomasz Gambin, Agnieszka Magdalena Rygiel, Heiko Witt, Alicja Domaszewicz, Joanna Kosińska, Paweł Kamiński, Helmut Laumen, Elwira Kolodziejczyk, Anna Drożak, Barbara Dorożko, Katarzyna Wertheim-Tysarowska, Grzegorz Oracz, Sebastian Kwiatkowski, Dorota Kozieł, Stanisław Głuszek, Jakub Drozak, Michal Zarod, Iwona Grabowska, Rafał Płoski
Publikováno v:
Pancreatology. 21:1434-1442
Purpose Loss of function variants of the transient receptor potential cation channel, subfamily V, member 6 (TRPV6) have been recently associated with chronic pancreatitis (CP) in Japanese, German and French patients. Here, we investigated the associ
Autor:
Jarosław Poznański, Justyna Sawicka, Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Anna Kutkowska-Kaźmierczak, Agnieszka Magdalena Rygiel, Cezary Kowalewski, A. Tysarowski, Jerzy Bal, Katarzyna Woźniak, Katarzyna Niepokój, N. Braun-Walicka
Publikováno v:
Journal of Applied Genetics
Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutati
Autor:
Giovanni Bisello, Katarzyna Kusmierska, Marcel M. Verbeek, Jolanta Sykut–Cegielska, Michèl A. A. P. Willemsen, Ron A. Wevers, Krystyna Szymańska, Jarosław Poznanski, Jakub Drozak, Katarzyna Wertheim–Tysarowska, Agnieszka Magdalena Rygiel, Mariarita Bertoldi
Publikováno v:
Cellular and Molecular Life Sciences, 79
Cellular and Molecular Life Sciences, 79, 6
Cellular and Molecular Life Sciences, 79, 6
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to mutations in the gene coding for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b0ad6e610b261b730cbced285fad7f
http://hdl.handle.net/11562/1065577
http://hdl.handle.net/11562/1065577
Autor:
Grzegorz Oracz, Solrun J. Steine, Agnieszka Magdalena Rygiel, Dorota Kozieł, Aleksandra Kujko, Wioletta Adamus-Białek, Anders Molven, Katarzyna Wertheim-Tysarowska, Karianne Fjeld, Stanisław Głuszek
Publikováno v:
Pancreatology. 19:531-534
Objectives It has previously been reported in a European case-control study with patients from Germany and France that CEL-HYB1, a hybrid allele of the carboxyl ester lipase (CEL) gene and its pseudogene CELP, increases susceptibility to chronic panc