Zobrazeno 1 - 10
of 41
pro vyhledávání: '"8-Dehydrocholesterol"'
Autor:
Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, Ned A. Porter
Publikováno v:
Journal of Lipid Research, Vol 54, Iss 1, Pp 244-253 (2013)
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patien
Externí odkaz:
https://doaj.org/article/c09b05fab6df45d5b9a9957e60245662
Autor:
Najaha A. Musse, Libin Xu, Sandipan Datta, Tyler C. Anderson, Richard T. Williams, Claire A. Healy, Alicia Lozano, Alexandra L. Hanlon, Valerie A. McDonald, Terry C. Hrubec, Ryan P. Seguin, Gino A Cortopassi
Publikováno v:
Toxicology Reports
Toxicology Reports, Vol 8, Iss, Pp 646-656 (2021)
Toxicology Reports, Vol 8, Iss, Pp 646-656 (2021)
Graphical abstract
Humans are frequently exposed to Quaternary Ammonium Compounds (QACs). QACs are ubiquitously used in medical settings, restaurants, and homes as cleaners and disinfectants. Despite their prevalence, nothing is known about the
Humans are frequently exposed to Quaternary Ammonium Compounds (QACs). QACs are ubiquitously used in medical settings, restaurants, and homes as cleaners and disinfectants. Despite their prevalence, nothing is known about the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6777786f2169b0287d7670c2d568caa
https://escholarship.org/uc/item/4rp8v0zz
https://escholarship.org/uc/item/4rp8v0zz
Autor:
Anuradha S. Pappu, Robert D. Steiner, Sonja L. Connor, Donna P. Flavell, Don S. Lin, Lauren Hatcher, D.Roger Illingworth, William E. Connor
Publikováno v:
Journal of Lipid Research, Vol 43, Iss 10, Pp 1661-1669 (2002)
Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by low plasma cholesterol and high 7-dehydrocholesterol (7-DHC). Synthesis of cholesterol and 7-DHC and its metabolites is regulated by HMG-CoA reductase, whose activity can be mea
Externí odkaz:
https://doaj.org/article/c0205209cf054c0780f20c98970d745e
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 9, Pp 1437-1447 (2000)
The Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome caused by a deficiency of the enzyme 7-dehydrocholesterol Δ7-reductase. This enzyme converts 7-dehydrocholesterol (7-DHC) to cholesterol in the last step in
Externí odkaz:
https://doaj.org/article/afc84f010a0f4b0287c7fec840258b32
Autor:
Akira Honda, Gerald Salen, Sarah Shefer, Ashok K. Batta, Megumi Honda, Guorong Xu, G. Stephen Tint, Yasushi Matsuzaki, Junichi Shoda, Naomi Tanaka
Publikováno v:
Journal of Lipid Research, Vol 40, Iss 8, Pp 1520-1528 (1999)
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway. The patients have reduced plasma and tissue cholesterol c
Externí odkaz:
https://doaj.org/article/6bc5db481f5c4453b4deaa517cc5cfd6
Autor:
Hrubec, Terry C., Seguin, Ryan P., Xu, L., Cortopassi, G. A., Datta, S., Hanlon, Alexandra L., Lozano, A. J., McDonald, V. A., Healy, C. A., Anderson, T. C., Musse, N. A., Williams, R. T.
Humans are frequently exposed to Quaternary Ammonium Compounds (QACs). QACs are ubiquitously used in medical settings, restaurants, and homes as cleaners and disinfectants. Despite their prevalence, nothing is known about the health effects associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2485::99dfbeacd4092bbeeafd5e78782dd03f
https://hdl.handle.net/10919/104713
https://hdl.handle.net/10919/104713
Autor:
Steven J. Fliesler, Sriganesh Ramachandra Rao, Sithara Raju Ponny, Ned A. Porter, Shailendra B. Patel, Vincent Fong, Babu Nageswararao Kanuri, Keri A. Tallman
Publikováno v:
Journal of Lipid Research, Vol 62, Iss, Pp 100002-(2021)
Journal of Lipid Research
Journal of Lipid Research
Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes the enzyme 3β-hydroxysterol-Δ7 reductase. SLOS patients present clinically with dysmorphology and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::628669fe15a4d77e5ef7fd0fbdf15f34
http://www.sciencedirect.com/science/article/pii/S0022227520437046
http://www.sciencedirect.com/science/article/pii/S0022227520437046
Publikováno v:
Medicine
Rationale: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2e70e8f90f256e393159906c4199fae1
http://europepmc.org/articles/PMC6344186
http://europepmc.org/articles/PMC6344186
Akademický článek
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Autor:
Libin Xu, Ellen R. Elias, Wei Liu, Robert D. Steiner, Louise S. Merkens, Dorothea Haas, Connor R. Lamberson, Ned A. Porter
Publikováno v:
Journal of Lipid Research, Vol 54, Iss 1, Pp 244-253 (2013)
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ(7)-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af937683e2009da400c5fa6369db380d
https://doi.org/10.1194/jlr.m031732
https://doi.org/10.1194/jlr.m031732