Results 31 to 40 of about 10,369 (237)

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis [PDF]

Iranian Biomedical Journal, 2021
Background Cerebrotendinous xanthomatosis (CTX) is a rare congenital lipid-storage disorder, leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene.
Zahra Rashvand, Kimia Kahrizi, Hossein Najmabadi, Reza Najafipour, Mir Davood Omrani   +4 more
semanticscholar   +3 more sources

Genetic variants in the vitamin D pathway genes are predictors of the risk of diabetic kidney disease in Central Asian Kazakhstani cohort with type 2 diabetes [PDF]

Frontiers in Medicine
IntroductionDiabetic kidney disease (DKD) is a common microvascular complication of type 2 diabetes mellitus (T2DM). Given vitamin D’s roles in glucose metabolism and renal function, this study investigated associations between common variants in vitamin
Binura Taurbekova, Abay Tursunov, Aida Kabibulatova, Alimzhan Muxunov, Assel Issabayeva, Kuralay Atageldiyeva, Kuralay Atageldiyeva, Kamilya Sydykova, Aigul Durmanova, Akbayan Markabayeva, Andrey Starodubov, Kymbat Mukhtarova, Wassim Y. Almawi, Antonio Sarria-Santamera   +13 more
doaj   +2 more sources

c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis [PDF]

Frontiers in Genetics, 2020
BackgroundCerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis caused by mutations in the CYP27A1 gene. CTX is an underdiagnosed and potentially treatable disease, thus a detailed appreciation of the phenotypic ...
Jingwen Jiang, Guang Chen, Guang Chen, Jingying Wu, Xinghua Luan, Haiyan Zhou, Xiaoli Liu, Zeyu Zhu, Xiaoxuan Song, Shige Wang, Xiaohang Qian, Juanjuan Du, Xiaojun Huang, Mei Zhang, Wei Xu, Li Cao   +15 more
doaj   +2 more sources

CYP27A1 wt Allele [PDF]

, 2020
National Cancer Institute
openalex   +2 more sources

Conversion of 7-ketocholesterol to oxysterol metabolites by recombinant CYP27A1 and retinal pigment epithelial cells[S] [PDF]

Journal of Lipid Research, 2011
Of the different oxygenated cholesterol metabolites, 7-ketocholesterol (7KCh) is considered a noxious oxy­sterol implicated in the development of certain pathologies, including those found in the eye.
Gun-Young Heo, Ilya Bederman, Natalia Mast, Wei-Li Liao, Illarion V. Turko, Irina A. Pikuleva   +5 more
doaj   +2 more sources

Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis [PDF]

Scientific Reports
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid disorder caused by a deficiency in CYP27A1, the first enzyme in the bile acid biosynthesis pathway.
Yudibeth Sixto-López, Humberto L. Mendoza-Figueroa, Bruno Landeros-Rivera, Alejandra Camacho-Molina, José Correa-Basurto   +4 more
doaj   +2 more sources

Cholesterol‐27α‐hydroxylase inhibitor nilvadipine can effectively treat cholestatic liver injury in adult offspring induced by prenatal dexamethasone exposure [PDF]

MedComm
Prenatal dexamethasone exposure (PDE) can increase offspring susceptibility to various diseases. However, the pathogenesis and early prevention for PDE offspring prone to cholestatic liver injury have been unclear.
Wen Hu, Jiayong Zhu, Qi Zhang, Xiaoqian Lu, Luting Yu, Bin Li, Liaobin Chen, Hui Wang   +7 more
doaj   +2 more sources

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis [PDF]

Frontiers in Neurology
ObjectiveThis study aims to analyze the clinical and genetic characteristics of cerebrotendinous xanthomatosis (CTX) in a Chinese family.MethodsClinical data, including medical history, neurologic and auxiliary examinations, imaging studies, and genetic ...
You Guoliang, Wang Zhaoxia, Zhang Lin, Chen Xuan, Zhang Xiaodong, Xing Xiaolian, Su Yangli, Zhang Tianli, Zhu Yanping, Wang Jiangping, Liu Qing   +10 more
doaj   +2 more sources

Circulating 27-hydroxycholesterol and breast cancer tissue expression of CYP27A1, CYP7B1, LXR-β, and ERβ: results from the EPIC-Heidelberg cohort

Breast Cancer Research, 2020
Background Experimental and epidemiological studies demonstrate a role for 27-hydroxycholesterol (27HC) in breast cancer development, though results are conflicting. Cholesterol 27-hydroxylase (CYP27A1) and oxysterol 7-alpha-hydroxylase (CYP7B1) regulate
Charlotte Le Cornet, Britta Walter, Disorn Sookthai, Theron S. Johnson, Tilman Kühn, Ester Herpel, Rudolf Kaaks, Renée T. Fortner   +7 more
doaj   +2 more sources

Host CYP27A1 expression is essential for ovarian cancer progression. [PDF]

Endocrine-Related Cancer, 2019
There is an urgent need for more effective strategies to treat ovarian cancer. Elevated cholesterol levels are associated with a decreased progression free survival time (PFS) while statins are protective.
Sisi He, Liqian Ma, A. Baek, Anna Vardanyan, Varsha Vembar, Joy J. Chen, Adam T Nelson, J. Burdette, E. Nelson   +8 more
semanticscholar   +3 more sources