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Page 1
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: rygiel am. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: rygiel am. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.
Dawidziuk M, Podwysocka A, Jurek M, Obersztyn E, Bekiesinska-Figatowska M, Goszczanska-Ciuchta A, Bukowska-Olech E, Rygiel AM, Guilbride DL, Wiszniewski W, Gawlinski P. Dawidziuk M, et al. Among authors: rygiel am. J Appl Genet. 2023 Sep;64(3):507-514. doi: 10.1007/s13353-023-00773-9. Epub 2023 Aug 21. J Appl Genet. 2023. PMID: 37599337 Free PMC article.
Hypogonadism - when does genetic diagnosis help in therapy?
Jankowska KK, Kutkowska-Kazmierczak A, Rygiel AM. Jankowska KK, et al. Among authors: rygiel am. Ginekol Pol. 2024;95(4):245-251. doi: 10.5603/gpl.97327. Epub 2023 Oct 20. Ginekol Pol. 2024. PMID: 37861224 Free article.
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
Wertheim-Tysarowska K, Osipowicz K, Gielniewski B, Wojtaś B, Szabelska-Beręsewicz A, Zyprych-Walczak J, Mika A, Tysarowski A, Duk K, Rygiel AM, Niepokój K, Woźniak K, Kowalewski C, Wierzba J, Jezela-Stanek A. Wertheim-Tysarowska K, et al. Among authors: rygiel am. Int J Mol Sci. 2023 May 29;24(11):9459. doi: 10.3390/ijms24119459. Int J Mol Sci. 2023. PMID: 37298411 Free PMC article.
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Tóth A, Demcsák A, Zankl F, Oracz G, Unger LS, Bugert P, Laumen H, Párniczky A, Hegyi P, Rosendahl J, Gambin T, Płoski R, Koziel D, Gluszek S, Lindgren F, Löhr JM, Sahin-Tóth M, Witt H, Rygiel AM, Ewers M, Hegyi E. Tóth A, et al. Among authors: rygiel am. Pancreatology. 2022 Sep;22(6):713-718. doi: 10.1016/j.pan.2022.06.258. Epub 2022 Jun 23. Pancreatology. 2022. PMID: 35773178 Free PMC article.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello G, Kusmierska K, Verbeek MM, Sykut-Cegielska J, Willemsen MAAP, Wevers RA, Szymańska K, Poznanski J, Drozak J, Wertheim-Tysarowska K, Rygiel AM, Bertoldi M. Bisello G, et al. Among authors: rygiel am. Cell Mol Life Sci. 2022 May 20;79(6):305. doi: 10.1007/s00018-022-04343-w. Cell Mol Life Sci. 2022. PMID: 35593933 Free PMC article.
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Rygiel AM, Unger LS, Sörgel FL, Masson E, Matsumoto R, Ewers M, Chen JM, Bugert P, Buscail L, Gambin T, Oracz G, Winiewska-Szajewska M, Mianowska A, Poznanski J, Kosińska J, Stawinski P, Płoski R, Koziel D, Gluszek S, Laumen H, Lindgren F, Löhr JM, Orekhova A, Rebours V, Rosendahl J, Párniczky A, Hegyi P, Sasaki A, Kataoka F, Tanaka Y, Hamada S, Sahin-Tóth M, Hegyi E, Férec C, Masamune A, Witt H. Rygiel AM, et al. Pancreatology. 2022 Jun;22(5):564-571. doi: 10.1016/j.pan.2022.04.015. Epub 2022 May 1. Pancreatology. 2022. PMID: 35589511 Free PMC article.
46 results