Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Elizabeth A. Sierra Potchanant"'
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:
Dana Mitchell, Jack Shireman, Elizabeth A. Sierra Potchanant, Montserrat Lara-Velazquez, Mahua Dey
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 15 (2021)
According to classical dogma, the central nervous system (CNS) is defined as an immune privileged space. The basis of this theory was rooted in an incomplete understanding of the CNS microenvironment, however, recent advances such as the identificati
Externí odkaz:
https://doaj.org/article/924bdb095d08458f980c13b089d48351
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:
Jack Shireman, Elizabeth A. Sierra Potchanant, Mahua Dey, Dana Mitchell, Montserrat Lara-Velazquez
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 15 (2021)
Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience
According to classical dogma, the central nervous system (CNS) is defined as an immune privileged space. The basis of this theory was rooted in an incomplete understanding of the CNS microenvironment, however, recent advances such as the identificati
Autor:
Grzegorz Nalepa, Ying He, Steven D. Rhodes, Donna Edwards, Zahi Abdul-Sater, Aditya Sheth, Elizabeth A. Sierra Potchanant, Dana Mitchell, Ka-Kui Chan, D. Wade Clapp, Richa Sharma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa6c0477767261012692dc4929bef553
https://doi.org/10.1002/1878-0261.13027/v2/response1
https://doi.org/10.1002/1878-0261.13027/v2/response1
Autor:
Scott Cooper, D. Wade Clapp, Hal E. Broxmeyer, Maegan L. Capitano, Elizabeth A. Sierra Potchanant
Publikováno v:
Blood Cells Mol Dis
Fanconi anemia (FA) is associated with bone marrow failure. Bone marrow (BM) from patients with FA and fanca(−/−) and fancc(−/−) mice are deficient in hematopoietic stem (HSCs) and progenitor cells (HPCs). Decreased HSCs/HPCs compromise their
Autor:
Ying He, Elizabeth A. Sierra Potchanant, Monica Khurana, Donna Edwards, Frederick J. Rescorla, Grzegorz Nalepa, Caroline A. Miller
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Correct diagnosis of inherited bone marrow failure syndromes is a challenge because of the significant overlap in clinical presentation of these disorders. Establishing right genetic diagnosis is crucial for patients’ optimal clinical management an
Autor:
Donna Cerabona, Stéphane Schurmans, Stéphanie Gayral, Ying He, Elizabeth A. Sierra Potchanant, Jeff R. Gehlhausen, Grzegorz Nalepa, Zejin Sun, Zahi Abdul Sater
Publikováno v:
Molecular and Cellular Biology. 37
The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase that is mutated in the developmental disorders Joubert and