Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ida Joely Jacobs"'
Autor:
Ida Joely Jacobs, Qiaoli Li
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15041 (2023)
Pseudoxanthoma elasticum (PXE) is a heritable multisystem ectopic calcification disorder. The gene responsible for PXE, ABCC6, encodes ABCC6, a hepatic efflux transporter regulating extracellular inorganic pyrophosphate (PPi), a potent endogenous cal
Externí odkaz:
https://doaj.org/article/a2b2bdb4514f4c1e807215a1f0975507
Publikováno v:
International Journal of Dermatology and Venerology, Vol 3, Iss 2, Pp 91-96 (2020)
Abstract. Objective:. Pseudoxanthoma elasticum (PXE) is a multisystem heritable disorder caused by mutations in the Abcc6 gene. The disease is characterized by ectopic mineralization of the skin, eyes, and arterial blood vessels. Previous studies hav
Externí odkaz:
https://doaj.org/article/3e8928ecfc6b4f45b52f17d3e89ac8b8
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:
Experimental Dermatology. 30:853-858
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic calcification disorders, affects the skin, eyes and the cardiovascular system due to inactivating mutations in the ABCC6 gene. There is no effective treatment for the systemic manifesta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af130ea9c006344b8269f720353436a0
https://doi.org/10.1111/exd.14288
https://doi.org/10.1111/exd.14288
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
Publikováno v:
Exp Dermatol
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic calcification disorders, affects the skin, eyes, and the cardiovascular system due to inactivating mutations in the ABCC6 gene. There is no effective treatment for the systemic manifest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d6805672a89ee281e96186863128bc7
https://pubmed.ncbi.nlm.nih.gov/33523493
https://pubmed.ncbi.nlm.nih.gov/33523493