Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Grzegorz Nalepa"'
Autor:
Paige L. Snider, Elizabeth A. Sierra Potchanant, Zejin Sun, Donna M. Edwards, Ka-Kui Chan, Catalina Matias, Junya Awata, Aditya Sheth, P. Melanie Pride, R. Mark Payne, Michael Rubart, Jeffrey J. Brault, Michael T. Chin, Grzegorz Nalepa, Simon J. Conway
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8201 (2024)
Cardiomyopathy is the predominant defect in Barth syndrome (BTHS) and is caused by a mutation of the X-linked Tafazzin (TAZ) gene, which encodes an enzyme responsible for remodeling mitochondrial cardiolipin. Despite the known importance of mitochond
Externí odkaz:
https://doaj.org/article/cb3ba0ddacf3416ab3d640e28074c424
Autor:
Ka‐Kui Chan, Zahi Abdul‐Sater, Aditya Sheth, Dana K. Mitchell, Richa Sharma, Donna M. Edwards, Ying He, Grzegorz Nalepa, Steven D. Rhodes, D. Wade Clapp, Elizabeth A. Sierra Potchanant
Publikováno v:
Molecular Oncology, Vol 16, Iss 4, Pp 860-884 (2022)
The Fanconi anemia (FA) pathway safeguards genomic stability through cell cycle regulation and DNA damage repair. The canonical tumor suppressive role of FA proteins in the repair of DNA damage during interphase is well established, but their functio
Externí odkaz:
https://doaj.org/article/af81c065551f42e1919675d6c2a442a5
Autor:
Donna M. Edwards, Dana K. Mitchell, Zahi Abdul-Sater, Ka-Kui Chan, Zejin Sun, Aditya Sheth, Ying He, Li Jiang, Jin Yuan, Richa Sharma, Magdalena Czader, Pei-Ju Chin, Yie Liu, Guillermo de Cárcer, Grzegorz Nalepa, Hal E. Broxmeyer, D. Wade Clapp, Elizabeth A. Sierra Potchanant
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Fanconi anemia (FA) is a disease of genomic instability and cancer. In addition to DNA damage repair, FA pathway proteins are now known to be critical for maintaining faithful chromosome segregation during mitosis. While impaired DNA damage repair ha
Externí odkaz:
https://doaj.org/article/3f11e067632b4f1cb8c3aaa365e91a9e
Autor:
Zora R. Rogers, Taizo A. Nakano, Timothy S. Olson, Alison A. Bertuch, Winfred Wang, Alfred Gillio, Thomas D. Coates, Anjulika Chawla, Paul Castillo, Peter Kurre, Christopher Gamper, Carolyn M. Bennett, Sarita Joshi, Amy E. Geddis, Jessica Boklan, Grzegorz Nalepa, Jennifer A. Rothman, James N. Huang, Gary M. Kupfer, Michaela Cada, Bertil Glader, Kelly J. Walkovich, Alexis A. Thompson, Rabi Hanna, Adrianna Vlachos, Maggie Malsch, Edie A. Weller, David A. Williams, Akiko Shimamura
Publikováno v:
Haematologica, Vol 104, Iss 10 (2019)
Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary evidence to inform treatment of relapsed or refractory severe aplastic anemia for pediatric p
Externí odkaz:
https://doaj.org/article/e30ee0ec051d4c8a8105c5d827063f09
Autor:
Yuan Zhou, Yongzheng He, Wen Xing, Peng Zhang, Hui Shi, Shi Chen, Jun Shi, Jie Bai, Steven D. Rhodes, Fengqui Zhang, Jin Yuan, Xianlin Yang, Xiaofan Zhu, Yan Li, Helmut Hanenberg, Mingjiang Xu, Kent A. Robertson, Weiping Yuan, Grzegorz Nalepa, Tao Cheng, D. Wade Clapp, Feng-Chun Yang
Publikováno v:
Haematologica, Vol 102, Iss 6 (2017)
Fanconi anemia is a complex heterogeneous genetic disorder with a high incidence of bone marrow failure, clonal evolution to acute myeloid leukemia and mesenchymal-derived congenital anomalies. Increasing evidence in Fanconi anemia and other genetic
Externí odkaz:
https://doaj.org/article/1121ed547efa4081b1fb6171d8e0fb48
Autor:
Qinghuang Chen, Ke Chen, Guijie Guo, Fang Li, Chao Chen, Song Wang, Grzegorz Nalepa, Shile Huang, Ji-Long Chen
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e111611 (2014)
CDKN3 (cyclin-dependent kinase inhibitor 3), a dual specificity protein phosphatase, dephosphorylates cyclin-dependent kinases (CDKs) and thus functions as a key negative regulator of cell cycle progression. Deregulation or mutations of CDNK3 have be
Externí odkaz:
https://doaj.org/article/07d45d27f0fd43c89ee15efe8836778b
Autor:
Xiaohua Wu, Shi Chen, Yongzheng He, Steven D Rhodes, Khalid S Mohammad, Xiaohong Li, Xianlin Yang, Li Jiang, Grzegorz Nalepa, Paige Snider, Alexander G Robling, D Wade Clapp, Simon J Conway, Theresa A Guise, Feng-Chun Yang
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24917 (2011)
Germline mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a complex genetic disorder with a high predisposition of numerous skeletal dysplasias including short stature, osteoporosis, kyphoscoliosis, and fracture non-un
Externí odkaz:
https://doaj.org/article/1e8574afe6fb49b3a3f102d9fec18c0c
Autor:
Richa Sharma, Zahi Abdul-Sater, Steven D. Rhodes, Grzegorz Nalepa, Elizabeth A. Sierra Potchanant, D. Wade Clapp, Dana Mitchell, Ying He, Aditya Sheth, Ka-Kui Chan, Donna Edwards
Publikováno v:
Molecular Oncology, Vol 16, Iss 4, Pp 860-884 (2022)
The Fanconi anemia (FA) pathway safeguards genomic stability through cell cycle regulation and DNA damage repair. The canonical tumor suppressive role of FA proteins in the repair of DNA damage during interphase is well established, but their functio
Autor:
Grzegorz Nalepa, Etan Orgel, Richard H. Ho, Matthew J. Oberley, Mark D. Fleming, Yves D. Pastore, Courtney D. DiNardo, Joseph Rosenthal, M. Tarek Elghetany, Akiko Shimamura, Maggie Malsch, Bradford Siegele, Ashley Galvin, Michelle Manalang, Elissa Furutani, Iftikhar Hanif, James A. Connelly, Jordan Henry Larson, Nicole Karras, Lauri Burroughs, Edie Weller, Farid Boulad, Kasiani C. Myers, Blanche P. Alter, Carlos E. Bueso-Ramos, Maxim Norkin, Valérie Arsenault, Taizo A. Nakano, Kelly Walkovich, Lisa J. McReynolds, Stella M. Davies, Paul Castillo
Publikováno v:
Lancet Haematol
Summary Background Data to inform surveillance and treatment for leukaemia predisposition syndromes are scarce and recommendations are largely based on expert opinion. This study aimed to investigate the clinical features and outcomes of patients wit