Results 81 to 90 of about 9,202 (195)

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

Histone deacetylase inhibitors: A new mode for inhibition of cholesterol metabolism [PDF]

, 2008
Background Eukaryotic gene expression is a complex process involving multiple cis and trans activating molecules to either facilitate or inhibit transcription.
Sridar V Chittur, Niquiche Sangster-Guity, Paulette J McCormick   +2 more
core   +1 more source

Integration of single‐cell and bulk transcriptomics reveals the association of manganese metabolism‐related genes with prognosis and immune infiltration in lung adenocarcinoma

Clinical &Translational Immunology, Volume 15, Issue 3, 2026.
This study developed a prognostic model for lung adenocarcinoma using manganese metabolism‐related genes (MRGs). Nine key MRGs were identified via multi‐omics and LASSO‐Cox analyses to calculate a risk score. The model showed robust predictive performance in both training and validation cohorts.
Hongliang Li, Shuzhen Wei, Wei Li, Junxia Sun, Yi Wang   +4 more
wiley   +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

Differential epigenetic reprogramming in response to specific endocrine therapies promotes cholesterol biosynthesis and cellular invasion [PDF]

, 2015
Endocrine therapies target the activation of the oestrogen receptor alpha (ERα) via distinct mechanisms, but it is not clear whether breast cancer cells can adapt to treatment using drug-specific mechanisms.
AN Malik, C Palmieri, C Yokoyama, CG Sanchez, D Hnisz, D Schmidt, EG Phimister, EP Nora, F Bertucci, J Ernst, JJ Tyson, JM Dowen, JM Polo, JS Carroll, JW Clendening, K Warita, KM Jozwik, L Magnani, L Magnani, L Magnani, L Magnani, L Magnani, L Pasquali, LA Martin, LE Shaw, M Greaves, M Lupien, M Umetani, M-L Lin, ML Suvà, MR Briggs, N Yamaguchi, ND Heintzman, O Pagani, Q Wu, S Kamisuki, S Neph, SV Sharma, T Bao, T-I Jeon, TEP Consortium, TJ Stasevich, TP Ahern, TP Ahern, TZ Parris, W Xie, WA Freed-Pastor, WA Whyte, WR Miller, WR Miller, Y Lombardo, Y Zhang   +51 more
core   +2 more sources

Multi‐Target Mechanisms of Whey Protein Against NAFLD: Integrating Bile Acid Metabolism, Gut Microbiota and Hepatic Inflammation

Food Science &Nutrition, Volume 14, Issue 3, March 2026.
Whey protein (WP) alleviates high‐fat diet (HFD)‐induced nonalcoholic fatty liver disease (NAFLD) through a tripartite mechanism targeting the gut‐liver axis. (1) Gut Microbiota Modulation: WP restores intestinal flora homeostasis by enriching beneficial taxa (e.g., Lactobacillus) and increasing the production of short‐chain fatty acids (SCFAs).
Dongjin Xu, Biru Qiu, Xueyun Dong, Jiajun Tan, Yunhan Xie, Yuanyuan Wan, Chenghai Chu, Chunrun Miao, Asmaa Ali, Min Chen, Jiayuan He, Liang Wu, Jiayong Xie   +12 more
wiley   +1 more source

Oat β‐Glucan and Galactooligosaccharides Influence Gallstone Formation by Modulating the Gut Microbiota, Particularly Desulfovibrionales

iMetaMed, Volume 2, Issue 1, March 2026.
Oat β‐glucan and galactooligosaccharides influence the formation of gallstones by modulating the gut microbiota, particularly the abundance of Desulfovibrionales. The primary mechanism involves metabolic byproducts associated with Desulfovibrionales inhibiting hepatic bile acid synthesis via both the hepatic FXR–SHP and intestinal FXR–FGF15 signaling ...
Liang Tian, Yanyan Lin, Ping Yue, Long Gao, Leiqing Wang, Chongfei Huang, Jinyu Zhao, Ningzu Jiang, Jiahui xi, Haidong Ma, Zhen Liu, Ruyang Zhong, Wenkang Fu, Ningning Mi, Mingzhen Bai, Bodong Zhang, Lunzhi Dai, Jiang Li, Hu Chen, Jinqiu Yuan, Wenbo Meng   +20 more
wiley   +1 more source

Two Membrane-Associated Tyrosine Phosphatase Homologs Potentiate C. elegans AKT-1/PKB Signaling [PDF]

, 2011
Akt/protein kinase B (PKB) functions in conserved signaling cascades that regulate growth and metabolism. In humans, Akt/PKB is dysregulated in diabetes and cancer; in Caenorhabditis elegans, Akt/PKB functions in an insulin-like signaling pathway to ...
Hu, Patrick J, Ruvkun, Gary B., Xu, Jinling   +2 more
core   +1 more source

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Natalja Bouwhuis, Soumia Majait, Yasmin Polak, Aylene de Jong, Bart A. W. Jacobs, Frédéric M. Vaz, Willemijn G. Leen, E. Marleen Kemper, Eleonora L. Swart, Carla E. M. Hollak   +9 more
wiley   +1 more source

Tumor Organoids: Breakthroughs in Clinical Decision Making, Drug Development, and Translational Advances Beyond Conventional Models

Med Research, Volume 2, Issue 1, Page 26-40, March 2026.
ABSTRACT Tumor organoid models are revolutionizing cancer research by bridging the translational gap between conventional two‐dimensional cell cultures and animal models. This Editorial thoroughly explores the fundamental innovations of patient‐derived organoid technology.
Yimao Wu, Ruowei Sun, Gokhan Zengin, Shuai Ren, Meng‐Yao Li   +4 more
wiley   +1 more source