Results 121 to 129 of about 5,760 (129)

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

Frontiers in Genetics, 2020
Guang Chen, Xinghua Luan, Hai-Yan Zhou   +2 more
exaly  

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene

Neurological Sciences, 2006
Gian Nicola Gallus, Federico A
exaly  

Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review

Journal of Clinical Lipidology, 2019
Jun-Jun Lee, Pei-Wen Wang, Tai-Long Pan   +2 more
exaly  

Human CYP27A1 catalyzes hydroxylation of β-sitosterol and ergosterol

Biological Chemistry, 2016
Adrian Gerber, Josef Zapp, Frank Hannemann   +2 more
exaly  

A rare variant in CYP27A1 and its association with atopic dermatitis with high serum total IgE

Allergy: European Journal of Allergy and Clinical Immunology, 2016
Michio Nagata, M Tamari, Emiko Noguchi   +2 more
exaly  

Quantification of Cholesterol-Metabolizing P450s CYP27A1 and CYP46A1 in Neural Tissues Reveals a Lack of Enzyme−Product Correlations in Human Retina but Not Human Brain

Journal of Proteome Research, 2011
Wei-Li Liao, Nathan G Dodder, Natalia Mast   +2 more
exaly  

CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study

Journal of Molecular Neuroscience, 2018
Luisa Agnello, Concetta Scazzone, Bruna Lo Sasso   +2 more
exaly  

Synthesis of an Endogenous Steroidal Na Pump Inhibitor Marinobufagenin, Implicated in Human Cardiovascular Diseases, Is Initiated by CYP27A1 via Bile Acid Pathway

Circulation: Cardiovascular Genetics, 2015
Olga V Fedorova, Yulia N Grigorova, Alexei Y Bagrov   +2 more
exaly  

Structural Motif-Based Homology Modeling of CYP27A1 and Site-Directed Mutational Analyses Affecting Vitamin D Hydroxylation

Biophysical Journal, 2006
David E Prosser, Zongchao Jia, Glenville Jones   +2 more
exaly