Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Victor B. Pastor"'
Autor:
Victor B. Pastor, Sushree S. Sahoo, Jessica Boklan, Georg C. Schwabe, Ebru Saribeyoglu, Brigitte Strahm, Dirk Lebrecht, Matthias Voss, Yenan T. Bryceson, Miriam Erlacher, Gerhard Ehninger, Marena Niewisch, Brigitte Schlegelberger, Irith Baumann, John C. Achermann, Akiko Shimamura, Jochen Hochrein, Ulf Tedgård, Lars Nilsson, Henrik Hasle, Melanie Boerries, Hauke Busch, Charlotte M. Niemeyer, Marcin W. Wlodarski
Publikováno v:
Haematologica, Vol 103, Iss 3 (2018)
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting
Externí odkaz:
https://doaj.org/article/76b79cce8e0e4cd59cccd8b0ca3182ac
Autor:
Matthew Collin, Dirk Lebrecht, Eirini Trompouki, Emilia J Kozyra, Brigitte Strahm, Valerie de Haas, Sushree S. Sahoo, Owen P. Smith, Riccardo Masetti, Christian Flotho, Charlotte M. Niemeyer, Marta Derecka, Marco Tartaglia, Markus Schmugge, Krisztián Kállay, Rebecca K Voss, Henrik Hasle, Miriam Erlacher, Christian Klemann, Gudrun Göhring, Ester Mejstrikova, Marek Ussowicz, Hauke Busch, Preeti Singh, Barbara De Moerloose, Enikoe Amina Szvetnik, Marcin W. Wlodarski, Patrick Metzger, Lucia Pedace, Shinsuke Hirabayashi, Michael Dworzak, Emma C. Morris, Albert Català, Ramunė Pasaulienė, Jan Starý, Stylianos Lefkopoulos, Franco Locatelli, Victor B Pastor, Melanie Boerries
Publikováno v:
Leukemia
Kozyra, E J, Pastor, V B, Lefkopoulos, S, Sahoo, S S, Busch, H, Voss, R K, Erlacher, M, Lebrecht, D, Szvetnik, E A, Hirabayashi, S, Pasaulienė, R, Pedace, L, Tartaglia, M, Klemann, C, Metzger, P, Boerries, M, Catala, A, Hasle, H, de Haas, V, Kállay, K, Masetti, R, De Moerloose, B, Dworzak, M, Schmugge, M, Smith, O, Starý, J, Mejstrikova, E, Ussowicz, M, Morris, E, Singh, P, Collin, M, Derecka, M, Göhring, G, Flotho, C, Strahm, B, Locatelli, F, Niemeyer, C M, Trompouki, E, Wlodarski, M W & European Working Group of MDS in Childhood (EWOG-MDS) 2020, ' Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency ', Leukemia, vol. 34, no. 10, pp. 2673-2687 . https://doi.org/10.1038/s41375-020-0899-5
LEUKEMIA
Kozyra, E J, Pastor, V B, Lefkopoulos, S, Sahoo, S S, Busch, H, Voss, R K, Erlacher, M, Lebrecht, D, Szvetnik, E A, Hirabayashi, S, Pasaulienė, R, Pedace, L, Tartaglia, M, Klemann, C, Metzger, P, Boerries, M, Catala, A, Hasle, H, de Haas, V, Kállay, K, Masetti, R, De Moerloose, B, Dworzak, M, Schmugge, M, Smith, O, Starý, J, Mejstrikova, E, Ussowicz, M, Morris, E, Singh, P, Collin, M, Derecka, M, Göhring, G, Flotho, C, Strahm, B, Locatelli, F, Niemeyer, C M, Trompouki, E, Wlodarski, M W & European Working Group of MDS in Childhood (EWOG-MDS) 2020, ' Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency ', Leukemia, vol. 34, no. 10, pp. 2673-2687 . https://doi.org/10.1038/s41375-020-0899-5
LEUKEMIA
Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by
Autor:
Nadine Van Roy, Kirsi Jahnukainen, Danielle E. Arnold, Sioban Keel, Katherine R. Calvo, Gudrun Göhring, Cristina Mecucci, Charlotte M. Niemeyer, Joelle Tchinda, Alison A. Bertuch, Jochen Buechner, Dennis D. Hickstein, Olga Haus, Peter Nöllke, Shlomit Barzilai-Birenboim, Courtney D. DiNardo, Martin Čermák, Helena Alaiz, Ayami Yoshimi, Hiroto Inaba, Sara Lewis, Steven M. Holland, Shinsuke Hirabayashi, Brigitte Schlegelberger, Victor B Pastor, Dominik Turkiewicz, Emilia J Kozyra, Hajnalka Andrikovics, Amy P. Hsu, Mark D. Fleming, David R. Betts, Henrik Hasle, Karin Nebral, Masahiro Onozawa, Valerie de Haas, Jan Stary, José Cervera, Francesco Pasquali, Akiko Shimamura, Kalliopi N. Manola, Michael Dworzak, Kiran Tawana, Zuzana Zemanova, Marcin W. Wlodarski, Shaohua Lei, H. Berna Beverloo, Brigitte Strahm
Publikováno v:
Kozyra, E J, Göhring, G, Hickstein, D D, Calvo, K R, DiNardo, C D, Dworzak, M, de Haas, V, Starý, J, Hasle, H, Shimamura, A, Fleming, M D, Inaba, H, Lewis, S, Hsu, A P, Holland, S M, Arnold, D E, Mecucci, C, Keel, S B, Bertuch, A A, Tawana, K, Barzilai, S, Hirabayashi, S, Onozawa, M, Lei, S, Alaiz, H, Andrikovics, H, Betts, D, Beverloo, B H, Buechner, J, Čermák, M, Cervera, J, Haus, O, Jahnukainen, K, Manola, K N, Nebral, K, Pasquali, F, Tchinda, J, Turkiewicz, D, Van Roy, N, Zemanova, Z, Pastor, V B, Strahm, B, Noellke, P, Niemeyer, C M, Schlegelberger, B, Yoshimi, A & Wlodarski, M W 2021, ' Association of unbalanced translocation der(1;7) with germline GATA2 mutations ', Blood, vol. 138, no. 23, pp. 2441-2445 . https://doi.org/10.1182/blood.2021012781
Blood, 138(23), 2441-2445. American Society of Hematology
Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Blood, 138(23), 2441-2445. American Society of Hematology
Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac915d144b3e5e29067d37c55b8eaea0
https://pure.au.dk/ws/files/274410748/Primary_cytotoxic_T_cell_lymphomas_harbor_recurrent_targetable_alterations_in_the_JAK_STAT_pathway.pdf
https://pure.au.dk/ws/files/274410748/Primary_cytotoxic_T_cell_lymphomas_harbor_recurrent_targetable_alterations_in_the_JAK_STAT_pathway.pdf
Autor:
Masayoshi Honda, Melchior Lauten, Marcus B. Valentine, Patrick Revy, Stéphane Coulon, Richa Sharma, Charnise Goodings, Caroline Kannengiesser, Fabian Beier, Melanie Boerries, Shondra M. Pruett-Miller, Sophie L Granger, Miriam Erlacher, Maria Spies, Axel Künstner, Megan A. Cooper, Jill A. Rosenfeld, Vincent Géli, Carole Saintomé, Victor B Pastor, Charlotte M. Niemeyer, Dmitri Churikov, Marcin W. Wlodarski, Sophia Polychronopoulou, Hauke Busch, Ti-Cheng Chang, Sandrine Hirschi, Louis Sanchez, Charikleia Kelaidi, Sushree S. Sahoo, Marc S. Wold, Alfonso G Fernandez, Sarah K. Nicholas
Publikováno v:
Blood
Blood, American Society of Hematology, 2021, ⟨10.1182/blood.2021011980⟩
Blood, 2021, ⟨10.1182/blood.2021011980⟩
Blood, 2022, 139 (7), pp.1039-1051. ⟨10.1182/blood.2021011980⟩
Blood, American Society of Hematology, 2021, ⟨10.1182/blood.2021011980⟩
Blood, 2021, ⟨10.1182/blood.2021011980⟩
Blood, 2022, 139 (7), pp.1039-1051. ⟨10.1182/blood.2021011980⟩
Human telomere biology disorders (TBD)/short telomere syndromes (STS) are heterogeneous disorders caused by inherited loss-of-function mutations in telomere-associated genes. Here, we identify 3 germline heterozygous missense variants in the RPA1 gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d60362309a06fad91835f5abb3f0ae
https://hal.archives-ouvertes.fr/hal-03431979
https://hal.archives-ouvertes.fr/hal-03431979
Autor:
Samuel W. Brady, Brent A. Orr, Jamie L. Maciaszek, Michael N. Edmonson, Michael Rusch, Yu Liu, Andrew Thrasher, Aman Patel, Jessica M. Valdez, Xin Zhou, Scott G. Foy, Jeffery M. Klco, Lu Wang, Stacy Hines-Dowell, Eric Davis, James R. Downing, Jiali Gu, Liza-Marie Johnson, Rose B. McGee, Scott Newman, Roya Mostafavi, Zhaohui Gu, Jian Wang, Armita Bahrami, Sheila A. Shurtleff, Delaram Rahbarinia, Dale Hedges, Lynn W. Harrison, Jay Knight, Ching-Hon Pui, Jared Becksfort, Manish Kubal, Giles W. Robinson, Emily Quinn, Leslie Taylor, Annastasia A. Ouma, Elizabeth M Azzato, Ti-Cheng Chang, Charles G. Mullighan, Yanling Liu, Joy Nakitandwe, Victor B Pastor, Michael R. Clay, Antonina Silkov, Jinghui Zhang, Manjusha Pande, Chimene Kesserwan, Kayla V. Hamilton, Alexander M. Gout, David A. Wheeler, David W. Ellison, Elsie L. Gerhardt, Kim E. Nichols, Zhaojie Zhang, Alberto S. Pappo, Regina Nuccio, Mark R. Wilkinson
Publikováno v:
Cancer Discov
Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-risk disease. Here, we used a three-platform sequencing approach, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and RNA sequencing (RN
Autor:
Brigitte Schlegelberger, Melanie Boerries, Ulf Tedgård, Brigitte Strahm, Gerhard Ehninger, Miriam Erlacher, John C. Achermann, Matthias Voss, Hauke Busch, Jochen Hochrein, Irith Baumann, Victor B Pastor, Lennart Nilsson, Marena R. Niewisch, Yenan T. Bryceson, Dirk Lebrecht, Jessica Boklan, Georg C. Schwabe, Ebru Tugrul Saribeyoglu, Charlotte M. Niemeyer, Henrik Hasle, Sushree Sangita Sahoo, Akiko Shimamura, Marcin W. Wlodarski
Publikováno v:
Haematologica
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting
Autor:
Paula Kjollerstrom, Marta Derecka, Brigitte Schlegelberger, Peter Lang, Dirk Lebrecht, Manching Ku, Birgit Burkhardt, Robert Durruthy-Durruthy, Marcin W. Wlodarski, Martin Čermák, Albert Català, Kalliopi Manola, Nadine Van Roy, Ingrid Simonitsch-Kluppp, Roos Leguit, Peter Bader, Barbara Gazic, Yaniv Zohar, Kalliopi Stefanaki, Michael Dworzak, Maureen O’Sullivan, Roland Meisel, Sophia Polychronopoulou, Emilia J Kozyra, Rita De Vito, David Betts, Pritam Kumar Panda, Amina Szvetnik, Peter Noellke, Brigitte Strahm, Julius Wehrle, Helena Podgornik, Carole Gengler, Valerie de Haas, Krisztián Kállay, Zuzana Zemanova, Luis Mascarenhas de Lemos, Marena R. Niewisch, Joelle Tchinda, Ayami Yoshimi-Noellke, Margarita Llavador Ros, Charlotte M. Niemeyer, Ivana Bodova, Gunnar Cario, Charnise Goodings, Berna Beverloo, Karin Nebral, Hajnalka Andrikovics, Dominik Turkiewicz, Pascale De Paepe, Sushree S. Sahoo, Owen P. Smith, Christian Flotho, Jan Starý, Marek Ussowicz, Jadwiga Maldyk, Riccardo Masetti, Stephan Schwarz-Furlan, Gudrun Göhring, Vit Campr, Francesco Pasquali, Irith Baumann, Henrik Hasle, Michael H. Albert, Shlomit Barzilai, Oksana Fabri, Helena Alaiz, Erik Clasen-Linde, Victor B Pastor, Miriam Erlacher, Kirsi Jahnukainen, Tine Plesner, Franco Locatelli, Olga Haus, Rebecca K Voss, Marta Jeison, Lukas Plank, Markus Schmugge, Rita Beier, José Cervera, Barbara De Moerloose, Owen Smith, Martina Rudelius, Ingo Müller, Jochen Buechner, Marko Kavcic, Martin Sauer, Ansgar Schulz, Judit Csomor, Shinsuke Hirabayashi
Publikováno v:
Nature Medicine. 27:2248-2248
Autor:
Marcin W. Wlodarski, Christian P. Kratz, Charlotte M. Niemeyer, Kathrin Thomay, Brigitte Schlegelberger, Mwe Mwe Chao, Victor B Pastor, Detlev Schindler, Gudrun Goehring
Publikováno v:
Klinische Pädiatrie. 229:329-334
Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next
Autor:
Francesco Locatelli, J. Stary, Henrik Hasle, Gudrun Göhring, I Baumann, V de Haas, Kirsi Jahnukainen, Shlomit Barzilai, Marcin W. Wlodarski, Marek Ussowicz, Victor B Pastor, Brigitte Strahm, Riccardo Masetti, S. Schwarz-Furlan, Peter Noellke, Dominik Turkiewicz, Albert Català, C.M. Niemeyer, Markus Schmugge, C. Flotho, Charnise Goodings, Miriam Erlacher, Michael Dworzak, Krisztián Kállay, O. Fabri, Sushree S. Sahoo, Owen P. Smith, B. De Moerloose, Sophia Polychronopoulou, Jochen Buechner, Ayami Yoshimi
Publikováno v:
Leukemia Research. 108:106679.1
Autor:
Melchior Lauten, Victor B Pastor, Miriam Erlacher, Masayoshi Honda, Richa Sharma, Marc S. Wold, Melanie Börries, Sushree S. Sahoo, Charnise Goodings-Harris, Charlotte M. Niemeyer, Marcin W. Wlodarski, Maria Spies, Hauke Busch, Fabian Beier
Publikováno v:
Blood. 136:36-37
Dyskeratosis congenita (DC) is a short telomere syndrome with bone marrow failure (BMF), mucocutaneous fragility and predisposition to malignancy due to inherited mutations in telomere associated genes. The genetic cause remains unknown in 10-20% of