Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Douglas, Ralph"'
Autor:
Umeshkumar Vekariya, Leonid Minakhin, Gurushankar Chandramouly, Mrityunjay Tyagi, Tatiana Kent, Katherine Sullivan-Reed, Jessica Atkins, Douglas Ralph, Margaret Nieborowska-Skorska, Anna-Mariya Kukuyan, Hsin-Yao Tang, Richard T. Pomerantz, Tomasz Skorski
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract DNA polymerase theta (Polθ)-mediated end-joining (TMEJ) repairs DNA double-strand breaks and confers resistance to genotoxic agents. How Polθ is regulated at the molecular level to exert TMEJ remains poorly characterized. We find that Pol
Externí odkaz:
https://doaj.org/article/c0a72ae0a24344bb80638065f6025830
Publikováno v:
International Journal of Dermatology and Venerology, Vol 3, Iss 4, Pp 198-204 (2020)
Abstract. Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, an
Externí odkaz:
https://doaj.org/article/a38ed1a3e16641f1ba0c54ef4c94ec6d
Autor:
Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li
Publikováno v:
PLoS Genetics, Vol 18, Iss 4, p e1010192 (2022)
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a po
Externí odkaz:
https://doaj.org/article/33be5d418ebc4c14bc28e34b680fc2b8
Publikováno v:
Journal of Bone and Mineral Research. 38:457-463
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89d129c89b51221a07780e6103f16ae9
https://doi.org/10.1002/jbmr.4791
https://doi.org/10.1002/jbmr.4791
Autor:
Douglas Ralph, Michael A. Levine, Gabriele Richard, Michelle M. Morrow, Elizabeth K. Flynn, Jouni Uitto, Qiaoli Li
Publikováno v:
Human Mutation. 43:1183-1200
ENPP1 encodes ENPP1, an ectonucleotidase catalyzing hydrolysis of ATP to AMP and inorganic pyrophosphate (PPi), and an endogenous plasma protein physiologically preventing ectopic calcification of connective tissues. Mutations in ENPP1 have been repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d65efabb07394c2114d19552cb2f5a9d
https://doi.org/10.1002/humu.24391
https://doi.org/10.1002/humu.24391
Autor:
Ida Joely Jacobs, Zhiliang Cheng, Douglas Ralph, Kevin O'Brien, Lisa Flaman, Jennifer Howe, David Thompson, Jouni Uitto, Qiaoli Li, Yves Sabbagh
Publikováno v:
Experimental Dermatology. 31:1095-1101
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6896b034baf64133fff36af1e9d7819f
https://doi.org/10.1111/exd.14587
https://doi.org/10.1111/exd.14587
Publikováno v:
Am J Pathol
Pathologic soft tissue calcification can occur in both genetic and acquired clinical conditions, causing significant morbidity and mortality. Although the pathomechanisms of pathologic calcification are poorly understood, major progress has been made
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fba75ec2896dd5d906aaa5def3d152f5
https://doi.org/10.1016/j.ajpath.2022.01.012
https://doi.org/10.1016/j.ajpath.2022.01.012
Autor:
Ida Joely, Jacobs, Zhiliang, Cheng, Douglas, Ralph, Kevin, O'Brien, Lisa, Flaman, Jennifer, Howe, David, Thompson, Jouni, Uitto, Qiaoli, Li, Yves, Sabbagh
Publikováno v:
Exp Dermatol
Pseudoxanthoma elasticum (PXE), a heritable multisystem ectopic calcification disorder, is predominantly caused by inactivating mutations in ABCC6. The encoded protein, ABCC6, is a hepatic efflux transporter and a key regulator of extracellular inorg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25c4e89959989163ca1a7524c7e80211
https://pubmed.ncbi.nlm.nih.gov/35511611
https://pubmed.ncbi.nlm.nih.gov/35511611
Pseudoxanthoma elasticum (PXE) is a heritable ectopic calcification disorder with multiorgan clinical manifestations. The gene at default, ABCC6, encodes an efflux transporter, ABCC6, which is a critical player regulating the homeostasis of inorganic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df0cea6c02f45bfd1de30672198fc7ce
https://hdl.handle.net/11380/1284727
https://hdl.handle.net/11380/1284727
Autor:
Mullins, Keith Douglas Ralph
This thesis was scanned from the print manuscript for digital preservation and is copyright the author. Researchers can access this thesis by asking their local university, institution or public library to make a request on their behalf. Monash staff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d9cbba86ea79306cf8146a1ed02e72