Results 71 to 80 of about 9,315 (207)

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

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

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   +1 more source

Hepatic bile acids and bile acid-related gene expression in pregnant and lactating rats [PDF]

, 2013
Background. Significant physiological changes occur during pregnancy and lactation. Intrahepatic cholestasis of pregnancy (ICP) is a liver disease closely related to disruption of bile acid homeostasis.
Dan Zhang, Hong M. Xie, Jie Liu, Qiong N. Zhu, Yuan F. Lu   +4 more
core   +1 more source

Effect of Cyp27A1 gene dosage on atherosclerosis development in ApoE‐knockout mice

The FASEB Journal, 2013
In humans, sterol 27‐hydroxylase (CYP27A1) deficiency leads to cholesterol deposition in tendons and vasculature. Thus, in addition to its role in bile acid synthesis, where it converts cholesterol to 27‐hydroxycholesterol (27‐OHC), CYP27A1 may also be atheroprotective. Cyp27A1‐deficient ( Cyp27A1
Line, Zurkinden, Curzio, Solcà, Isabelle A, Vögeli, Bruno, Vogt, Daniel, Ackermann, Sandra K, Erickson, Felix J, Frey, Dmitri, Sviridov, Geneviève, Escher   +8 more
openaire   +4 more sources

GLP‐1 agonists and the gut microbiome: A bidirectional relationship

British Journal of Clinical Pharmacology, Volume 92, Issue 5, Page 1309-1325, May 2026.
Abstract Glucagon‐like peptide‐1 (GLP‐1) receptor agonists have transformed the management of type 2 diabetes mellitus (T2DM) and obesity, yet their interactions with the gut microbiome remain an emerging frontier in pharmacological and metabolic research.
Srinivas Kamath, Nicole S. L. Chan, Paul Joyce   +2 more
wiley   +1 more source

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

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   +1 more source

Characterisation of the oxysterol metabolising enzyme pathway in mismatch repair proficient and deficient colorectal cancer [PDF]

, 2016
ACKNOWLEDGMENTS The immunohistochemistry was performed with the support of the Grampian Biorepository. GRANT SUPPORT Rebecca Swan was supported by the Jean Shanks Foundation.
Alnabulsi, Abdo, Alnabulsi, Ayham, Cash, Beatriz, Murray, Graeme I., Swan, Rebecca   +4 more
core   +1 more source

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS [PDF]

PLoS ONE, 2012
Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS) have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic
Diekstra, Frank P., Saris, Christiaan G. J., van Rheenen, Wouter, Franke, Lude, Jansen, Ritsert C., van Es, Michael A., van Vught, Paul W. J., Blauw, Hylke M., Groen, Ewout J. N., Horvath, Steve, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Robberecht, Wim, Andersen, Peter M., Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E., Brown, Robert H., Shatunov, Aleksey, Shaw, Christopher E., Leigh, P. Nigel, Al-Chalabi, Ammar, Ophoff, Roel A., van den Berg, Leonard H., Veldink, Jan H., Brown Jr., Robert H.   +28 more
openaire   +9 more sources

Fungal Polysaccharides as Next‐Generation Bioactive: Advances in Structure–Activity Mapping, Mode of Action, and Biotechnological Horizons

Food Frontiers, Volume 7, Issue 3, May 2026.
ABSTRACT Fungal polysaccharides (FPs) represent a diverse class of bioactive macromolecules widely studied for their nutritional, therapeutic, and biotechnological value. This review synthesizes recent advances (2020–2025) in the structural characterization, biological functions, and translational potential of FPs.
Muhammad Aaqil, Feng Zhang, Jingchuan Zheng, Muhammad Kamil, Yuwei Guo, Cunchao Zhao, Yang Tian   +6 more
wiley   +1 more source

Differential expression and co-expression gene networks reveal candidate biomarkers of boar taint in non-castrated pigs [PDF]

, 2017
Boar taint (BT) is an offensive odour or taste observed in pork from a proportion of non-castrated male pigs. Surgical castration is effective in avoiding BT, but animal welfare issues have created an incentive for alternatives such as genomic selection.
Do, Duy N., Drag, Markus, Kadarmideen, Haja N., Kogelman, Lisette J. A., Skinkyté-Juskiené, Ruta   +4 more
core   +3 more sources