Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Victor Pastor Loyola"'
Autor:
Mohammad Eldomery, Patrick Blackburn, Taylor Cain, Victor Pastor Loyola, David Wheeler, Lu Wang, Jeffery M. Klco, Jamie Maciaszek
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100940- (2024)
Externí odkaz:
https://doaj.org/article/aa1ba1b2efd143c0ae61a04aa034733d
Autor:
Samuel W. Brady, Kathryn G. Roberts, Zhaohui Gu, Lei Shi, Stanley Pounds, Deqing Pei, Cheng Cheng, Yunfeng Dai, Meenakshi Devidas, Chunxu Qu, Ashley N. Hill, Debbie Payne-Turner, Xiaotu Ma, Ilaria Iacobucci, Pradyuamna Baviskar, Lei Wei, Sasi Arunachalam, Kohei Hagiwara, Yanling Liu, Diane A. Flasch, Yu Liu, Matthew Parker, Xiaolong Chen, Abdelrahman H. Elsayed, Omkar Pathak, Yongjin Li, Yiping Fan, J. Robert Michael, Michael Rusch, Mark R. Wilkinson, Scott Foy, Dale J. Hedges, Scott Newman, Xin Zhou, Jian Wang, Colleen Reilly, Edgar Sioson, Stephen V. Rice, Victor Pastor Loyola, Gang Wu, Evadnie Rampersaud, Shalini C. Reshmi, Julie Gastier-Foster, Jaime M. Guidry Auvil, Patee Gesuwan, Malcolm A. Smith, Naomi Winick, Andrew J. Carroll, Nyla A. Heerema, Richard C. Harvey, Cheryl L. Willman, Eric Larsen, Elizabeth A. Raetz, Michael J. Borowitz, Brent L. Wood, William L. Carroll, Patrick A. Zweidler-McKay, Karen R. Rabin, Leonard A. Mattano, Kelly W. Maloney, Stuart S. Winter, Michael J. Burke, Wanda Salzer, Kimberly P. Dunsmore, Anne L. Angiolillo, Kristine R. Crews, James R. Downing, Sima Jeha, Ching-Hon Pui, William E. Evans, Jun J. Yang, Mary V. Relling, Daniela S. Gerhard, Mignon L. Loh, Stephen P. Hunger, Jinghui Zhang, Charles G. Mullighan
Publikováno v:
Nat Genet
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Here, using whole-genome, exome and transcriptome sequencing of 2,754 childhood patients with ALL, we find that, despite a generally low mutation burden, ALL cases harbor a media
Autor:
Barbara De Moerloose, Miriam Erlacher, Victor Pastor Loyola, Rebecca K Voss, Albert Català, Enikoe Amina Szvetnik, Sushree Sangita Sahoo, Marry M. van den Heuvel-Eibrink, Dirk Lebrecht, Brigitte Strahm, Dominik Turkiewicz, Emilia J Kozyra, Shlomit Barzilai, Jochen Büchner, Charlotte M. Niemeyer, Peter Noellke, Pritam Kumar Panda, Riccardo Masetti, Krisztián Kállay, Franco Locatelli, Jan Stary, Oksana Fabri, Kirsi Jahnukainen, Markus Schmugge, Owen P. Smith, Christian Flotho, Henrik Hasle, Michael Dworzak, Sophia Polychronopoulou, Marek Ussowicz, Marcin W. Wlodarski, Gudrun Göhring
Publikováno v:
Blood. 132:643-643
Hereditary predisposition has been ever since implicated in the etiology of childhood myelodysplastic syndromes (MDS). Until recently, GATA2 deficiency prevailed as a major germline cause in pediatric primary MDS. In the past 2 years, we and others i
Autor:
Yasunobu Nagata, Hirohito Shima, Hassan Awada, Kenichi Yoshida, Satoshi Narumi, Yihong Guan, Victor Pastor Loyola, Vera Adema, Bartlomiej P Przychodzen, Thomas LaFramboise, Cassandra M. Hirsch, Jaroslaw P. Maciejewski, Tomas Radivoyevitch, Jörg Cammenga, Hideki Makishima, Seishi Ogawa, Mikkael A. Sekeres, Teodora Kuzmanovic, Marcin W. Wlodarski, Rabi Hanna, Francesc Solé, Babal K. Jha
Publikováno v:
Blood. 132:4351-4351
Familial myelodysplastic syndromes (MDS), leukemias, and bone marrow failure (BMF) syndromes, typically present in children and young adults. Such cases associate with germ line (GL) mutations in DDX41, RUNX1,ETV6, GATA2 and ANKRD26 and were recently
Autor:
Brigitte Schlegelberger, Miriam Erlacher, Charlotte M. Niemeyer, Rebecca K Voss, Emilia J Kozyra, Sushree Sangita Sahoo, Christian Flotho, Dirk Lebrecht, Julius Wehrle, Pritam Kumar Panda, Victor Pastor Loyola, Enikoe Amina Szvetnik, Jan Stary, Brigitte Strahm, Gudrun Göhring, Marcin W. Wlodarski
Publikováno v:
Blood. 132:105-105
Childhood myelodysplastic syndromes (MDS) account for less than 5% of pediatric hematologic malignancies and differ from their adult counterpart in terms of biology, genetics, and cure rates. Complete (-7) or partial loss (del7q) of chromosome 7 cons
Autor:
Myriam Ricarda Lorenz, Alyson W. MacInnes, Marena R. Niewisch, Sule Unal, Charlotte M. Niemeyer, Ina Hainmann, Hélène Dollfus, Müge Gökçe, Victor Pastor Loyola, Enikoe Amina Szvetnik, Thierry Leblanc, Marie-Françoise O'Donohue, Thomas Wiesel, Tamas Farkas, Klaus Schwarz, Sushree Sangita Sahoo, Eusebia Lara-Villacanas, Naz Guleray, Stephan Ehl, Doris Steinemann, Christian Klemann, Marcin W. Wlodarski, Michael S. Hershfield, Regine Grosse, Lydie Da Costa, Pierre-Emmanuel Gleizes, Gabriele Escherich
Publikováno v:
Blood. 130:874-874
Diamond-Blackfan anemia (DBA) is a prototypic ribosomopathy and remains the most common cause of congenital pure red cell aplasia (PRCA). In 2/3 of patients, ribosomal protein haploinsufficiency is disease-causing, while in remaining 1/3 the genetic
Autor:
Victor Pastor Loyola, Markus Schmugge, Miguel Hernandez-Marti, Albert Català, Barbara De Moerloose, Bartlomiej P Przychodzen, Jan Starý, Roos J. Leguit, Shinsuke Hirabayashi, Riccardo Masetti, G. Kerndrup, Michael Dworzak, Vit Campr, Franco Locatelli, Marek Ussowicz, Pascale Paepe, Ingrid Simonitsch-Klupp, Maureen OxSullivan, Rita Devito, Marcin W. Wlodarski, Owen P. Smith, Marry M. van den Heuvel-Eibrink, Axel Karow, Jadwiga Maldyk, Jaroslaw P. Maciejewski, Brigitte Strahm, Irith Baumann, Emilia J Kozyra, Henrik Hasle, Charlotte M. Niemeyer
Publikováno v:
Blood. 126:1662-1662
Childhood myelodysplastic syndromes (MDS) belong to a rare group of disorders of aberrant clonal hematopoiesis manifesting throughout entire childhood and adolescence. We had previously established that GATA2 germline mutations can be considered the
Autor:
Joelle Tchinda, Olga Haus, Henrik Hasle, José Cervera, Victor Pastor Loyola, Michael Rehli, David R. Betts, Marry M. van den Heuvel-Eibrink, Nadine Van Roy, Kyra Michalova, Riccardo Masetti, Emilia J Kozyra, Markus Schmugge, Michael Lübbert, Sandra Pohl, Gudrun Göhring, Oskar A. Haas, Barbara De Moerloose, Charlotte M. Niemeyer, Brigitte Schlegelberger, Peter Noellke, H. Berna Beverloo, Daniel Heudobler, Ester Mejstrikova, Owen P. Smith, Jaroslaw P. Maciejewski, Brigitte Strahm, Francesco Pasquali, Ulrich Salzer, Michael Dworzak, Franco Locatelli, Marcin W. Wlodarski, Ayami Yoshimi, Shinsuke Hirabayashi, Marek Ussowicz, Jan Starý, Albert Català
Publikováno v:
Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The emergence of GATA2 deficiency as a germline predisposition to myeloid malignancies raises questions about the nature of acquired secondary genetic and epigenetic events facilitating leukemogenesis. Previously, mutations in ASXL1 were implicated a