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Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects
Frattini, Annalisa, Bolamperti, Simona, Valli, Roberto, Cipolli, Marco, Pinto, Rita Maria, Bergami, Elena, Frau, Maria Rita, Cesaro, Simone, Signo, Michela, Bezzerri, Valentino, Porta, Giovanni, Khan, Abdul Waheed, Rubinacci, Alessandro, Villa, Isabella
Published in International journal of molecular sciences (11.12.2021)
Published in International journal of molecular sciences (11.12.2021)
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Journal Article
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong‐Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier‐Daire, Valérie, Kim, Ok‐Hwa, Forlino, Antonella, Cho, Tae‐Joon, Mäkitie, Outi
Published in Journal of bone and mineral research (01.02.2021)
Published in Journal of bone and mineral research (01.02.2021)
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Journal Article
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outi Mäkitie
Published in Journal of Bone and Mineral Research (11.09.2020)
Published in Journal of Bone and Mineral Research (11.09.2020)
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Journal Article
RNA polymerase I subunit RPA43 activates rRNA expression and cell proliferation but inhibits cell migration
Zhang, Yue, Pang, Yaoyu, Zhang, Kewei, Song, Xiaoye, Gao, Junwei, Zhang, Shuting, Deng, Wensheng
Published in Biochimica et biophysica acta. General subjects (01.09.2023)
Published in Biochimica et biophysica acta. General subjects (01.09.2023)
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Journal Article
Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years
Pegoraro, Anna, Bezzerri, Valentino, Tridello, Gloria, Brignole, Cecilia, Lucca, Francesca, Pintani, Emily, Danesino, Cesare, Cesaro, Simone, Fioredda, Francesca, Cipolli, Marco
Published in Cancers (01.04.2024)
Published in Cancers (01.04.2024)
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Journal Article
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency
Politano, Davide, Mancini, Cecilia, Celario, Massimiliano, Radio, Francesca Clementina, D'Abrusco, Fulvio, Garau, Jessica, Kalantari, Silvia, Visani, Gaia, Carbonera, Simone, Gana, Simone, Ferilli, Marco, Chiriatti, Luigi, Cappelletti, Camilla, Ellena, Katia, Prodi, Elena, Borgatti, Renato, Valente, Enza Maria, Orcesi, Simona, Tartaglia, Marco, Sirchia, Fabio
Published in Genes (02.07.2025)
Published in Genes (02.07.2025)
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Journal Article
Drosophila RpS12 controls translation, growth, and cell competition through Xrp1
Ji, Zhejun, Kiparaki, Marianthi, Folgado, Virginia, Kumar, Amit, Blanco, Jorge, Rimesso, Gerard, Chuen, Jacky, Liu, Yang, Zheng, Deyou, Baker, Nicholas E.
Published in PLoS genetics (01.12.2019)
Published in PLoS genetics (01.12.2019)
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Journal Article
A Phase I/II, Intra-Patient Dose-Escalation Study of Bitopertin, a Selective Inhibitor of GlyT1 and Heme Synthesis, for Steroid-Refractory Diamond-Blackfan Anemia
Young, David J., Machado, Tania Rene, Doty, Raymond T., Wu, Colin O., Abkowitz, Janis L., Savage, William, Dunbar, Cynthia E.
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
Disease Modeling and Phenotype Rescue Using Inducible Pluripotent Stem Cells from Patients with Diamond-Blackfan Anemia
Bhoopalan, Senthil Velan, Han, Min-Joon, Ellis, Steven, Lesmana, Harry, Estepp, Jeremie H., Jang, Yoonjeong, Weiss, Mitchell J., Wlodarski, Marcin W.
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Journal Article
THERAPEUTIC USE OF SURF2 MODULATORS
TAGNERES, Sophie, MARCEL, Virginie, LEBARON, Simon, GLEIZES, Pierre-Emmanuel, PLISSONASTANG, Célia
Year of Publication 05.06.2025
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Year of Publication 05.06.2025
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