Results 131 to 140 of about 10,369 (237)

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis

Orphanet Journal of Rare Diseases, 2010
Article abstract Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the ...
Garuti Rita, Vogel Hans-Peter, Lingesleben Alexandra, Schneider Hauke, Calandra Sebastiano   +4 more
doaj   +1 more source

Maternal VDR variants rather than 25-hydroxyvitamin D concentration during early pregnancy are associated with type 1 diabetes in the offspring [PDF]

, 2016
This study was supported by the Finnish Academy (grant 127219), the European Foundation for the Study of Diabetes, the Novo Nordisk Foundation, the Diabetes Research Foundation, the EVO funding of the South Ostrobothnia Central Hospital from the ...
AG Uitterlinden, AW Norman, B Frederiksen, B-W Ogunkolade, BN Frederiksen, Christel Lamberg-Allardt, Christopher Mathews, D Saccone, E Hyppönen, E Ramos-Lopez, E Ramos-Lopez, EL Barry, Graham A. Hitman, Heljä-Marja Surcel, HK Brekke, HT Siljander, IM Sørensen, J Ahn, J Ahn, J Esparza-Gordillo, J Raab, Jaakko Tuomilehto, JD Cooper, JJ McGrath, JR Pilsner, L Marjamäki, LC Stene, LC Stene, Leena Kinnunen, M Shahbazi, M Simpson, Maija E. Miettinen, ME Miettinen, Melissa C. Smart, MF Holick, NJ Knaap van der, R Bailey, S Nejentsev, SJ James, SM Orton, The EURODIAB Substudy 2 Study Group, TJ Wang, Valma Harjutsalo, X Guillot, Y Benjamini   +44 more
core   +1 more source

Impact of the sterol 27-hydroxylase (CYP27A1) and 27-hydroxycholesterol on tumor-pathological features, prognosis and response to statin treatment in breast cancer [PDF]

, 2017
Siker Kimbung, Ching‐yi Chang, Pär‐Ola Bendahl, Laura G. Dubois, Will J. Thompson, Donald P. McDonnell, Signe Borgquist   +6 more
openalex   +1 more source

Expression of key enzymes in bile acid biosynthesis during development: CYP7B1-mediated activities show tissue-specific differences

Journal of Lipid Research, 2002
The developmental variation of cytochrome P450 (CYP)7A1, CYP7B1, CYP27A1, and 3β-hydroxy-Δ5-C27-steroid dehydrogenase, key enzymes in bile acid biosynthesis, were investigated in pigs of different ages.
Maria Norlin
doaj   +1 more source

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.

Internal medicine (Tokyo, Japan), 2018
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels.
Sasamura, Akari, Akazawa, Satoru, Haraguchi, Ai, Horie, Ichiro, Ando, Takao, Abiru, Norio, Takei, Hajime, Nittono, Hiroshi, Une, Mizuho, Kurosawa, Takao, Murai, Tsuyoshi, Naruse, Hiromu, Nakayama, Tomohiro, Kotani, Kazuhiko, Remaley, Alan T., Kawakami, Atsushi   +15 more
openaire   +2 more sources

Additional file 2 of CYP27A1 expression is associated with risk of late lethal estrogen receptor-positive breast cancer in postmenopausal patients

, 2020
Siker Kimbung, Maria Inasu, Tor Stålhammar, Björn Nodin, Karin Elebro, Helga Tryggvadottir, Maria Ygland Rödström, Karin Jirström, Karolin Isaksson, Helena Jernström, Signe Borgquist   +10 more
openalex   +1 more source

Role of local bioactivation of vitamin D by CYP27A1 and CYP2R1 in the control of cell growth in normal endometrium and endometrial carcinoma [PDF]

, 2014
Laura Bergadà, Judit Pallarés, A Vittoria, Ana Cardus Figueras, Marı́a Santacana, Joan Valls, Gonzalo Cao, Elvira Fernández, Xavier Dolcet, Adriana Dusso, Xavier Matías‐Guiu   +10 more
openalex   +1 more source

Evidence linking exposure of fish primary macrophages to antibiotics activates the NF-kB pathway. [PDF]

, 2020
Low doses of antibiotics are ubiquitous in the marine environment and may exert negative effects on non-target aquatic organisms. Using primary macrophages of common carp, we investigated the mechanisms of action following exposure to several common ...
Chen, Qiqing, Fang, Meijuan, Greer, Justin, Hu, Jiaqi, Magnuson, Jason T, Qiu, Wenhui, Schlenk, Daniel, Yang, Ming, Zheng, Chunmiao   +8 more
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Cathelicidin preserves intestinal barrier function in polymicrobial sepsis. [PDF]

, 2020
ObjectivesThe intestinal epithelium compartmentalizes the sterile bloodstream and the commensal bacteria in the gut. Accumulating evidence suggests that this barrier is impaired in sepsis, aggravating systemic inflammation. Previous studies reported that
Chan, Hung, Chan, Matthew TV, Cho, Chi H, Gallo, Richard L, Gin, Tony, Ho, Idy HT, Ho, Jeffery, Hu, Wei, Leung, Czarina CH, Li, Qing, Liang, Yonghao, Ling, Lowell, Liu, Xiaodong, Tse, Gary, Ugwu, Felix N, Wong, Sunny H, Wong, Wai Tat, Wu, William KK, Yau, Johnny CW, Yu, Jun, Zeng, Judeng, Zhang, Lin, Zhang, Yuchen   +22 more
core   +1 more source

Vitamin D and calcium metabolism in horses in New Zealand : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Veterinary Science at Institute of Veterinary, Animal and Biomedical Sciences (IVABS), Massey University, Manawatū, New Zealand [PDF]

, 2016
The physiology of vitamin D in horses has not been studied in great depth. Few studies on vitamin D metabolites (25OHD2, 25OHD3, and 1,25(OH)2D) and their relationship to other serum analytes exist. In addition, some studies suggest that equine vitamin D
Azarpeykan, Sara
core