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Akademický článek
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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
Autor:
Vanessa E. Kennedy, Cecelia Perkins, Andreas Reiter, Mohamad Jawhar, Johannes Lübke, Hanneke C. Kluin-Nelemans, William Shomali, Cheryl Langford, Justin Abuel, Olivier Hermine, Marek Niedoszytko, Aleksandra Gorska, Andrzej Mital, Patrizia Bonadonna, Roberta Zanotti, Ilaria Tanasi, Mattias Mattsson, Hans Hagglund, Massimo Triggiani, Akif Selim Yavuz, Jens Panse, Deborah Christen, Marc Heizmann, Khalid Shoumariyeh, Sabine Müller, Chiara Elena, Luca Malcovati, Nicolas Fiorelli, Friederike Wortmann, Vladan Vucinic, Knut Brockow, Christos Fokoloros, Sotirios G. Papageorgiou, Christine Breynaert, Dominique Bullens, Michael Doubek, Anja Ilerhaus, Irena Angelova-Fischer, Oleksii Solomianyi, Judit Várkonyi, Vito Sabato, Axel Rüfer, Tanja Daniela Schug, Maud A. W. Hermans, Anna Belloni Fortina, Francesca Caroppo, Horia Bumbea, Theo Gulen, Karin Hartmann, Hanneke Oude Elberink, Juliana Schwaab, Michel Arock, Peter Valent, Wolfgang R. Sperr, Jason Gotlib
Mast cell leukemia (MCL) is a rare subtype of systemic mastocytosis defined by ≥20% mast cells (MC) on a bone marrow aspirate. We evaluated 92 patients with MCL from the European Competence Network on Mastocytosis registry. Thirty-one (34%) patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a51700b0b3a20b24ae1025a06a68dc
https://lirias.kuleuven.be/handle/20.500.12942/707908
https://lirias.kuleuven.be/handle/20.500.12942/707908
Autor:
Angelica Macauda, Alyssa Clay-Gilmour, Thomas Hielscher, Michelle A.T. Hildebrandt, Marcin Kruszewski, Robert Z. Orlowski, Shaji K. Kumar, Elad Ziv, Enrico Orciuolo, Elizabeth E. Brown, Asta Försti, Rosalie G. Waller, Mitchell J. Machiela, Stephen J. Chanock, Nicola J. Camp, Marcin Rymko, Małgorzata Raźny, Wendy Cozen, Judit Várkonyi, Chiara Piredda, Matteo Pelosini, Alem A. Belachew, Edyta Subocz, Kari Hemminki, Malwina Rybicka-Ramos, Graham G. Giles, Roger L. Milne, Jonathan N. Hofmann, Jan Maciej Zaucha, Annette Juul Vangsted, Hartmut Goldschmidt, S. Vincent Rajkumar, Waldemar Tomczak, Juan Sainz, Aleksandra Butrym, Marzena Watek, Elżbieta Iskierka-Jazdzewska, Gabriele Buda, Dennis P. Robinson, Artur Jurczyszyn, Marek Dudziński, Joaquin Martinez-Lopez, Jason P. Sinnwell, Susan L. Slager, Krzysztof Jamroziak, Rui Manuel Vieira Reis, Niels Weinhold, Parveen Bhatti, Luis G. Carvajal-Carmona, Daria Zawirska, Aaron D. Norman, Grzegorz Mazur, Sonja I. Berndt, Daniele Campa, Celine M. Vachon, Federico Canzian
Publikováno v:
Cancer Epidemiology, Biomarkers & Prevention. 31:1863-1866
Background: Genome-wide association studies (GWAS) of multiple myeloma in populations of European ancestry (EA) identified and confirmed 24 susceptibility loci. For other cancers (e.g., colorectum and melanoma), risk loci have also been associated wi
Autor:
Angelica Macauda, Matteo Pelosini, Krzysztof Jamroziak, Mario Petrini, Annette Juul Vangsted, Chiara Piredda, Stephane Minvielle, Marek Dudziński, Hervé Avet-Loiseau, Aleksandra Butrym, Ulla Vogel, Niels Abildgaard, Fabienne Lesueur, Waldemar Tomczak, Vibeke Andersen, Herlander Marques, Daniele Campa, Judit Várkonyi, Rui Manuel Reis, Katalin Kadar, Gabriele Buda, Małgorzata Raźny, Charles Dumontet, Juan Sainz, Anna Suska, Enrico Orciuolo, Agnieszka Druzd-Sitek, Marcin Kruszewski, Daria Zawirska, Niels Frost Andersen, Artur Jurczyszyn, Grzegorz Mazur, Marcin Rymko, Federica Gemignani, Edyta Subocz, Federico Canzian, Katia Beider, Jan Maciej Zaucha, Marzena Wątek, Arnon Nagler
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
instname
European Journal of Human Genetics, 2021, Online ahead of print. ⟨10.1038/s41431-021-00986-8⟩
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
instname
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
Autor:
Anna Belloni Fortina, Khalid Shoumariyeh, Aleksandra Górska, Hans Hägglund, Oleksii Solomianyi, Francesca Caroppo, Andreas Reiter, Michel Arock, Bjorn van Anrooij, Peter Valent, Akif Selim Yavuz, Cecelia Perkins, Jason Gotlib, Cornelius Miething, Alexander Zink, Massimiliano Bonifacio, William Shomali, Christine Breynaert, Julien Rossignol, Mohamad Jawhar, Chiara Elena, Michael Doubek, Marek Niedoszytko, Sabine Müller, Jens Panse, Wolfgang R. Sperr, Luca Malcovati, Emir Hadzijusufovic, Vladan Vucinic, Vito Sabato, Judit Várkonyi, Patrizia Bonadonna, Massimo Triggiani, Anja Illerhaus, Luigi Scaffidi, Roberta Parente, Roberta Zanotti, Friederike Wortmann, Hanneke Oude Elberink, Hanneke C. Kluin-Nelemans, Magdalena Lange, Mattias Mattsson, Karin Hartmann, Olivier Hermine, Irena Angelova-Fischer, Tanja Schug, Knut Brockow, Giuseppe Lucchini
Publikováno v:
Leukemia
Leukemia, 36(2). Nature Publishing Group
Leukemia, 36(2). Nature Publishing Group
In the current classification of the World Health Organization (WHO), bone marrow mastocytosis (BMM) is a provisional variant of indolent systemic mastocytosis (ISM) defined by bone marrow involvement and absence of skin lesions. However, no addition
Autor:
Szilvia Krizsán, Zsófia Dénes, Ambrus Gángó, Bence Gerecs, Judit Demeter, Zsolt Nagy, Ilona Tárkányi, Tamás Masszi, Péter Farkas, András Masszi, Gergely Szombath, Szabolcs Benedek, Judit Várkonyi, Laura Horváth, Gáspár Radványi, István Takács, Aryan Hamed, Zsolt Lázár, Erzsébet Süveges, Ágnes Kárpáti, Márk Plander, Tamás Szendrei, Katalin Pál, Mihály Gurzó, János Jakucs, Miklós Egyed, Csaba Bödör
Publikováno v:
Hematológia−Transzfuziológia. 52:96-105
Absztrakt: Az akut myeloid leukemia (AML) osztalyozasanak es rizikobecslesenek alapjaul a citogenetikai elteresek szolgalnak, azonban az elmult evekben az uj generacios szekvenalasnak (NGS) koszonh...
Autor:
Magdalena Lange, Jens Panse, Karoline V. Gleixner, Massimo Triggiani, Elisabeth Aberer, Andreas Reiter, Nikolas von Bubnoff, Roberta Parente, Haifa Kathrin Al-Ali, Knut Brockow, Serena Merante, Olivier Hermine, Akif Selim Yavuz, Patrizia Bonadonna, Chiara Elena, Anja Illerhaus, Olivier Lortholary, Marek Niedoszytko, Hans Hägglund, Bjorn van Anrooij, David Fuchs, Hanneke C. Kluin-Nelemans, Dietger Niederwieser, Emir Hadzijusufovic, Luca Malcovati, Wolfgang R. Sperr, Marie-Anne Morren, Jason Gotlib, Michael Doubek, Mattias Mattsson, Francesca Caroppo, Alexander Zink, Rosemarie Greul, Cecelia Perkins, Vanessa E Kennedy, Massimiliano Bonifacio, Mohamad Jawhar, Joanna N G Oude Elberink, Peter Valent, Judit Várkonyi, Roberta Zanotti, Michel Arock, Anna Belloni Fortina, Khalid Shoumariyeh, Aleksandra Górska, Juliana Schwaab, Karin Hartmann, Vito Sabato
Publikováno v:
The journal of allergy and clinical immunology. In practice
Mastocytosis is a unique hematologic neoplasm with complex biology and pathology and a variable clinical course. The disease can essentially be divided into cutaneous mastocytosis (CM) and systemic mastocytosis (SM). In adults, SM is diagnosed in mos
Autor:
Annette Juul Vangsted, Daria Zawirska, Vibeke Andersen, Marek Dudziński, Stefano Landi, Agnieszka Druzd-Sitek, Hervé Avet-Loiseau, Katia Beider, Malgorzata Krawczyk-Kulis, Marcin Kruszewski, Roberto Silvestri, Aleksandra Butrym, Jan Maciej Zaucha, Yang Li, Anna Stępień, Mihai G. Netea, Federica Morani, Daniele Campa, María Eugenia Sarasquete, Artur Jurczyszyn, Grzegorz Mazur, Juan Sainz, Rob ter Horst, Krzysztof Jamroziak, Giuseppe Maccari, Norbert Grząśko, Rui Manuel Reis, Malwina Rybicka, Matteo Pelosini, Charles Dumontet, Maria Sole Facioni, Małgorzata Raźny, Federica Gemignani, Marcin Rymko, Arnon Nagler, Judit Várkonyi, Elżbieta Iskierka-Jażdżewska, Gergely Szombath, Herlander Marques, Edyta Subocz, Katalin Kadar, Fabienne Lesueur, Victor Moreno, Federico Canzian, Ombretta Melaiu, Diego Calvetti, Andres Jerez, Ulla Vogel, Olga Ostrovsky, Svend Erik Hove Jacobsen, Joaquin Martinez-Lopez, Angelica Macauda, Ramón García-Sanz, Marzena Watek
Publikováno v:
International Journal of Cancer, 148(8), 1887-1894. Wiley
International Journal of Cancer, 148, 1887-1894
Melaiu, O, Macauda, A, Sainz, J, Calvetti, D, Facioni, M S, Maccari, G, ter Horst, R, Netea, M G, Li, Y, Grząśko, N, Moreno, V, Jurczyszyn, A, Jerez, A, Watek, M, Varkonyi, J, Garcia-Sanz, R, Kruszewski, M, Dudziński, M, Kadar, K, Jacobsen, S E H, Mazur, G, Andersen, V, Rybicka, M, Zawirska, D, Raźny, M, Zaucha, J M, Ostrovsky, O, Iskierka-Jazdzewska, E, Reis, R M, Stępień, A, Beider, K, Nagler, A, Druzd-Sitek, A, Marques, H, Martìnez-Lopez, J, Lesueur, F, Avet-Loiseau, H, Vangsted, A J, Krawczyk-Kulis, M, Butrym, A, Jamroziak, K, Dumontet, C, Vogel, U, Rymko, M, Pelosini, M, Subocz, E, Szombath, G, Sarasquete, M E, Silvestri, R, Morani, F, Landi, S, Campa, D, Canzian, F & Gemignani, F 2021, ' Common gene variants within 3′-untranslated regions as modulators of multiple myeloma risk and survival ', International Journal of Cancer, vol. 148, no. 8, pp. 1887-1894 . https://doi.org/10.1002/ijc.33377
International Journal of Cancer, 148, 8, pp. 1887-1894
Melaiu, O, Macauda, A, Sainz, J, Calvetti, D, Facioni, M S, Maccari, G, Ter Horst, R, Netea, M G, Li, Y, Grząśko, N, Moreno, V, Jurczyszyn, A, Jerez, A, Watek, M, Varkonyi, J, Garcia-Sanz, R, Kruszewski, M, Dudziński, M, Kadar, K, Jacobsen, S E H, Mazur, G, Andersen, V, Rybicka, M, Zawirska, D, Raźny, M, Zaucha, J M, Ostrovsky, O, Iskierka-Jazdzewska, E, Reis, R M, Stępień, A, Beider, K, Nagler, A, Druzd-Sitek, A, Marques, H, Martìnez-Lopez, J, Lesueur, F, Avet-Loiseau, H, Vangsted, A J, Krawczyk-Kulis, M, Butrym, A, Jamroziak, K, Dumontet, C, Vogel, U, Rymko, M, Pelosini, M, Subocz, E, Szombath, G, Sarasquete, M E, Silvestri, R, Morani, F, Landi, S, Campa, D, Canzian, F & Gemignani, F 2021, ' Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival ', International Journal of Cancer, vol. 148, no. 8, pp. 1887-1894 . https://doi.org/10.1002/ijc.33377
International Journal of Cancer, 148, 1887-1894
Melaiu, O, Macauda, A, Sainz, J, Calvetti, D, Facioni, M S, Maccari, G, ter Horst, R, Netea, M G, Li, Y, Grząśko, N, Moreno, V, Jurczyszyn, A, Jerez, A, Watek, M, Varkonyi, J, Garcia-Sanz, R, Kruszewski, M, Dudziński, M, Kadar, K, Jacobsen, S E H, Mazur, G, Andersen, V, Rybicka, M, Zawirska, D, Raźny, M, Zaucha, J M, Ostrovsky, O, Iskierka-Jazdzewska, E, Reis, R M, Stępień, A, Beider, K, Nagler, A, Druzd-Sitek, A, Marques, H, Martìnez-Lopez, J, Lesueur, F, Avet-Loiseau, H, Vangsted, A J, Krawczyk-Kulis, M, Butrym, A, Jamroziak, K, Dumontet, C, Vogel, U, Rymko, M, Pelosini, M, Subocz, E, Szombath, G, Sarasquete, M E, Silvestri, R, Morani, F, Landi, S, Campa, D, Canzian, F & Gemignani, F 2021, ' Common gene variants within 3′-untranslated regions as modulators of multiple myeloma risk and survival ', International Journal of Cancer, vol. 148, no. 8, pp. 1887-1894 . https://doi.org/10.1002/ijc.33377
International Journal of Cancer, 148, 8, pp. 1887-1894
Melaiu, O, Macauda, A, Sainz, J, Calvetti, D, Facioni, M S, Maccari, G, Ter Horst, R, Netea, M G, Li, Y, Grząśko, N, Moreno, V, Jurczyszyn, A, Jerez, A, Watek, M, Varkonyi, J, Garcia-Sanz, R, Kruszewski, M, Dudziński, M, Kadar, K, Jacobsen, S E H, Mazur, G, Andersen, V, Rybicka, M, Zawirska, D, Raźny, M, Zaucha, J M, Ostrovsky, O, Iskierka-Jazdzewska, E, Reis, R M, Stępień, A, Beider, K, Nagler, A, Druzd-Sitek, A, Marques, H, Martìnez-Lopez, J, Lesueur, F, Avet-Loiseau, H, Vangsted, A J, Krawczyk-Kulis, M, Butrym, A, Jamroziak, K, Dumontet, C, Vogel, U, Rymko, M, Pelosini, M, Subocz, E, Szombath, G, Sarasquete, M E, Silvestri, R, Morani, F, Landi, S, Campa, D, Canzian, F & Gemignani, F 2021, ' Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival ', International Journal of Cancer, vol. 148, no. 8, pp. 1887-1894 . https://doi.org/10.1002/ijc.33377
Contains fulltext : 232394.pdf (Publisher’s version ) (Closed access) We evaluated the association between germline genetic variants located within the 3'-untranlsated region (polymorphic 3'UTR, ie, p3UTR) of candidate genes involved in multiple my
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e02915c7b2fa2a406d805879e747871
https://doi.org/10.1002/ijc.33377
https://doi.org/10.1002/ijc.33377