Výsledky vyhledávání - "Marek, Dudziński"

A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk

Autor: Marco Dicanio, Matteo Giaccherini, Alyssa Clay‐Gilmour, Angelica Macauda, Juan Sainz, Mitchell J. Machiela, Malwina Rybicka‐Ramos, Aaron D. Norman, Agata Tyczyńska, Stephen J. Chanock, Torben Barington, Shaji K. Kumar, Parveen Bhatti, Wendy Cozen, Elizabeth E. Brown, Anna Suska, Eva K. Haastrup, Robert Z. Orlowski, Marek Dudziński, Ramon Garcia‐Sanz, Marcin Kruszewski, Joaquin Martinez‐Lopez, Katia Beider, Elżbieta Iskierka‐Jazdzewska, Matteo Pelosini, Sonja I. Berndt, Małgorzata Raźny, Krzysztof Jamroziak, S. Vincent Rajkumar, Artur Jurczyszyn, Annette Juul Vangsted, Pilar Garrido Collado, Ulla Vogel, Jonathan N. Hofmann, Mario Petrini, Aleksandra Butrym, Susan L. Slager, Elad Ziv, Edyta Subocz, Graham G. Giles, Niels Frost Andersen, Grzegorz Mazur, Marzena Watek, Fabienne Lesueur, Michelle A. T. Hildebrandt, Daria Zawirska, Lene Hyldahl Ebbesen, Herlander Marques, Federica Gemignani, Charles Dumontet, Judit Várkonyi, Gabriele Buda, Arnon Nagler, Agnieszka Druzd‐Sitek, Xifeng Wu, Katalin Kadar, Nicola J. Camp, Norbert Grzasko, Rosalie G. Waller, Celine Vachon, Federico Canzian, Daniele Campa

Publikováno v: Dicanio, M, Giaccherini, M, Clay-Gilmour, A, Macauda, A, Sainz, J, Machiela, M J, Rybicka-Ramos, M, Norman, A D, Tyczyńska, A, Chanock, S J, Barington, T, Kumar, S K, Bhatti, P, Cozen, W, Brown, E E, Suska, A, Haastrup, E K, Orlowski, R Z, Dudziński, M, Garcia-Sanz, R, Kruszewski, M, Martinez-Lopez, J, Beider, K, Iskierka-Jazdzewska, E, Pelosini, M, Berndt, S I, Raźny, M, Jamroziak, K, Rajkumar, S V, Jurczyszyn, A, Vangsted, A J, Collado, P G, Vogel, U, Hofmann, J N, Petrini, M, Butrym, A, Slager, S L, Ziv, E, Subocz, E, Giles, G G, Andersen, N F, Mazur, G, Watek, M, Lesueur, F, Hildebrandt, M A T, Zawirska, D, Ebbesen, L H, Marques, H, Gemignani, F, Dumontet, C, Várkonyi, J, Buda, G, Nagler, A, Druzd-Sitek, A, Wu, X, Kadar, K, Camp, N J, Grzasko, N, Waller, R G, Vachon, C, Canzian, F & Campa, D 2023, ' A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk ', International Journal of Cancer, vol. 152, no. 2, pp. 239-248 . https://doi.org/10.1002/ijc.34278

Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome-wide significant loci shared across cancer and noncancer traits. This feature is particularly relev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32837a0c51884be8e4eff22a1b4fa8ed
https://doi.org/10.1002/ijc.34278

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Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach

Autor: Adrian A. Michalski, Karol Lis, Joanna Stankiewicz, Sylwester M. Kloska, Arkadiusz Sycz, Marek Dudziński, Katarzyna Muras-Szwedziak, Michał Nowicki, Stanisława Bazan-Socha, Michal J. Dabrowski, Grzegorz W. Basak

Publikováno v: Journal of Clinical Medicine; Volume 12; Issue 10; Pages: 3599

In clinical practice, the consideration of non-specific symptoms of rare diseases in order to make a correct and timely diagnosis is often challenging. To support physicians, we developed a decision-support scoring system on the basis of retrospectiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd6a3aba1f906b768aaae5b6e21df443

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The interplay between telomeric complex members and BCR::ABL1 oncogenic tyrosine kinase in the maintenance of telomere length in chronic myeloid leukemia

Autor: Anna Deręgowska, Monika Pępek, Iwona Solarska, Marcin M. Machnicki, Katarzyna Pruszczyk, Marek Dudziński, Joanna Niesiobędzka-Krężel, Ilona Seferyńska, Waldemar Sawicki, Maciej Wnuk, Tomasz Stokłosa

Publikováno v: Journal of Cancer Research and Clinical Oncology.

Purpose Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by recurrent genetic aberration in leukemic stem cells, namely Philadelphia chromosome caused by reciprocal translocation t(9;22)(q34;q11). In our study, we analyze

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::142310ff19bedc53f92869d03047c628
https://doi.org/10.1007/s00432-023-04662-w

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A polygenic risk score for multiple myeloma risk prediction

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, Online ahead of print. ⟨10.1038/s41431-021-00986-8⟩
Canzian, F, Piredda, C, Macauda, A, Zawirska, D, Andersen, N F, Nagler, A, Zaucha, J M, Mazur, G, Dumontet, C, Wątek, M, Jamroziak, K, Sainz, J, Várkonyi, J, Butrym, A, Beider, K, Abildgaard, N, Lesueur, F, Dudziński, M, Vangsted, A J, Pelosini, M, Subocz, E, Petrini, M, Buda, G, Raźny, M, Gemignani, F, Marques, H, Orciuolo, E, Kadar, K, Jurczyszyn, A, Druzd-Sitek, A, Vogel, U, Andersen, V, Reis, R M, Suska, A, Avet-Loiseau, H, Kruszewski, M, Tomczak, W, Rymko, M, Minvielle, S & Campa, D 2022, ' A polygenic risk score for multiple myeloma risk prediction ', European Journal of Human Genetics, vol. 30, no. 4, pp. 474-479 . https://doi.org/10.1038/s41431-021-00986-8
Digibug. Repositorio Institucional de la Universidad de Granada
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European Journal of Human Genetics, 2021, Online ahead of print. ⟨10.1038/s41431-021-00986-8⟩

This work was partially supported by intramural funds of the University of Pisa, DKFZ, and University Hospital of Southern Jutland, Denmark, and by a grant of the French National Cancer Institute (INCA). The authors wish to thank Dr. Dominic Edelmann

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb61a838decdb20ae46bda004e087ad
https://doi.org/10.1038/s41431-021-00986-8

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Multifocal Pyoderma Gangrenosum with an Underlying Hemophagocytic Lymphohistiocytosis: Case Report and the Review of the Literature

Autor: Elżbieta Ostańska, Jadwiga Niemiec-Dudek, Marek Dudziński, Adrian Burdacki, Dominik Samotij, Aleksandra Opalińska, Adam Reich, Dominika Kwiatkowska, Mirosław Markiewicz

Publikováno v: Dermatology and Therapy

Pyoderma gangrenosum (PG) is an uncommon, serious, ulcerating skin disease of uncertain etiology. It manifests as a noninfectious, progressive necrosis of the skin characterized by sterile neutrophilic infiltrates. It seems to be a disorder of the im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd899a396b6f657f9b187e96b3eb0b00
https://doi.org/10.1007/s13555-021-00571-3

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