Beyond myeloid neoplasms germline guidelines: Validation of the thresholds criteria in the search of germline predisposition variants

Autor: Julia Mestre, Lorea Chaparro, Ana Manzanares, Blanca Xicoy, Lurdes Zamora, Francesc Sole, Oriol Calvete

Publikováno v: eJHaem, Vol 5, Iss 5, Pp 1021-1027 (2024)

Abstract Introduction Germline predisposition to myeloid neoplasms can be suspected in patients younger than 50 years or when harboring mutations with a variant allele frequency (VAF) higher than 30% for point mutations in specific genes. To investig

Externí odkaz: https://doaj.org/article/7f06d8aeae5346b4a164946323df977d

Non-del(5q) myelodysplastic syndromes–associated loci detected by SNP-array genome-wide association meta-analysis

Autor: Kathy L. McGraw, Chia-Ho Cheng, Y. Ann Chen, Hsin-An Hou, Björn Nilsson, Giulio Genovese, Thomas Cluzeau, Andrea Pellagatti, Bartlomiej P. Przychodzen, Mar Mallo, Leonor Arenillas, Azim Mohamedali, Lionel Adès, David A. Sallman, Eric Padron, Lubomir Sokol, Chimene Moreilhon, Sophie Raynaud, Hwei-Fang Tien, Jacqueline Boultwood, Benjamin L. Ebert, Francesc Sole, Pierre Fenaux, Ghulam J. Mufti, Jaroslaw P. Maciejewski, Peter A. Kanetsky, Alan F. List

Publikováno v: Blood Advances, Vol 3, Iss 22, Pp 3579-3589 (2019)

Abstract: Myelodysplastic syndromes (MDS) are hematopoietic stem cell malignancies. Known predisposing factors to adult MDS include rare germline mutations, cytotoxic therapy, age-related clonal hematopoiesis, and autoimmune or chronic inflammatory d

Externí odkaz: https://doaj.org/article/cf1ad2d32c354d1dad1743567cc1316e

A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes

Autor: Giulia Maggioni, Matteo Bersanelli, Erica Travaglino, Ana Alfonso Piérola, Annika Kasprzak, Arnan Sangerman Montserrat, Elisabetta Sauta, Claudia Sala, Tommaso Matteuzzi, Manja Meggendorfer, Matteo Gnocchi, Lin-Pierre Zhao, Cristina Astrid Tentori, Kathrin Nachtkamp, Daniele Dall'Olio, Ettore Mosca, Marta Ubezio, Alessia Campagna, Antonio Russo, Giulia Rivoli, Massimo Bernardi, Lorenza Borin, Maria Teresa Voso, Marta Riva, Esther Oliva, Matteo Zampini, Elena Riva, Elena Saba, Saverio D'Amico, Luca Lanino, Benedetta Tinterri, Francesca Re, Marilena Bicchieri, Laura Giordano, Giovanni Angelotti, Pierandrea Morandini, Anne Sophie Kubasch, Francesco Passamonti, Alessandro Rambaldi, Victor Savevski, Armando Santoro, Arjan A. van de Loosdrecht, Alice Brogi, Valeria Santini, Shahram Kordasti, Guillermo Sanz, Francesc Sole, Norbert Gattermann, Wolfgang Kern, Uwe Platzbecker, Lionel Ades, Pierre Fenaux, Torsten Haferlach, Gastone Castellani, Ulrich Germing, Maria Diez-Campelo, Matteo G. Della Porta

Publikováno v: GenoMed4All consortium 2023, ' A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes : a multicentre, observational cohort study ', The Lancet Haematology, vol. 10, no. 2, pp. e117-e128 . https://doi.org/10.1016/S2352-3026(22)00323-4
The Lancet Haematology, 10(2), e117-e128. Lancet Publishing Group

Background Sex is a major source of diversity among patients and a sex-informed approach is becoming a new paradigm in precision medicine. We aimed to describe sex diversity in myelodysplastic syndromes in terms of disease genotype, phenotype, and cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503395a18d54ac04f5422062d52b818c
https://doi.org/10.1016/s2352-3026(22)00323-4

Supplementary Data from Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts

Autor: Simona Colla, Gerd A. Blobel, Guillermo Garcia-Manero, Karen Clise-Dwyer, Gheath Al-Atrash, Valeria Santini, Stephanie Halene, Jennifer S. Carew, Rafael Bejar, Tuyet M. Tan, Matteo Pellegrini, Carlos Bueso-Ramos, Yuanbin Song, Irene Gañán-Gómez, Valeria Visconte, Jaroslaw P. Maciejewski, Margherita Cassari, Pamela Lockyer, Francesc Sole, Pamela Acha, Feng Wang, Scott A. Peslak, Hui Yang, Guillermo Montalban-Bravo, Natthakan Thongon, Rashmi Kanagal-Shamanna, Feiyang Ma, Vera Adema

Supplementary Data from Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5865c40b6e6adc3d75741f8245104f3f
https://doi.org/10.1158/2643-3230.22545554

Strategic Decision-Making Speed in New Technology Based Firms

Autor: Campos, Héctor Montiel, Parellada, Francesc Solé, Valenzuela, Francisco Alfonso Aguilar, Rubio, Alejandro Magos

Publikováno v: In RAI Revista de Administração e Inovação April-June 2015 12(2):130-152