Results 51 to 60 of about 9,315 (207)

CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report

World Journal of Clinical Cases, 2022
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1. It has a low incidence rate, insidious onset, and diverse clinical manifestations. It can be easily misdiagnosed and can go unrecognized by clinicians, leading to delayed treatment and worsened patient outcomes.A 38-year-old male was ...
Li, Zhao-Ran, Zhou, Yu-Ling, Jin, Qi, Xie, Yin-Yin, Meng, Hong-Mei   +4 more
openaire   +2 more sources

High CYP27A1 expression is a biomarker of favorable prognosis in premenopausal patients with estrogen receptor positive primary breast cancer

npj Breast Cancer, 2021
27-hydroxycholesterol (27HC), synthesized from cholesterol by the enzyme CYP27A1, differentially impacts estrogen receptor positive (ER+) breast cancer (BC) cell growth depending on estrogen levels.
Maria Inasu, Pär-Ola Bendahl, Mårten Fernö, Per Malmström, Signe Borgquist, Siker Kimbung   +5 more
doaj   +1 more source

Deficiency of Capicua disrupts bile acid homeostasis [PDF]

, 2018
Capicua (CIC) has been implicated in pathogenesis of spinocerebellar ataxia type 1 and cancer in mammals; however, the in vivo physiological functions of CIC remain largely unknown.
Choi, N, Fryer, JD, Hwang, D, Jung, HY, Kang, H, Kim, E, KIM, KYONG TAI, Kim, S, Lee, J, LEE, YOONTAE, Park, S, Yoe, J, Zoghbi, HY   +12 more
core   +2 more sources

Role of cytochrome P450 for vitamin D metabolisms in patients with neurodegenerative disorders

Clinical Parkinsonism & Related Disorders, 2022
Introduction: We previously reported lower serum 25-hydroxyvitamin D concentrations in patients with Alzheimer’s disease (AD), Parkinson’s disease (PD) and Multiple system atrophy (MSA) compared to healthy controls (HC), whereas 1,25-di-hydroxyvitamin D ...
Asako Kakimoto, Hiromu Ogura, Midori Suenaga, Takayasu Mishima, Shinsuke Fujioka, Shinji Ouma, Yoichi Matsunaga, Yoshio Tsuboi   +7 more
doaj   +1 more source

Targeting mitochondrial 18 kDa translocator protein (TSPO) regulates macrophage cholesterol efflux and lipid phenotype [PDF]

, 2014
The aim of the present study was to establish mitochondrial cholesterol trafficking 18 kDa translocator protein (TSPO) as a potential therapeutic target, capable of increasing macrophage cholesterol efflux to (apo)lipoprotein acceptors.
Anne-Marie Allen, Annette Graham, Batarseh, Bird, Borthwick, Borthwick, Brown, Dmitrova-Shumkovska, Engel, Falchi, Farke, Feramisco, Fernandez-Hernando, Gallus, Gerrity, Gut, Hebbachi, Janice M. W. Taylor, Kannel, Khan, Lecanu, Madamanchi, Mercer, Ning, Ning, Ogata, Oram, Pandak, Puddu, Pyper, Rae, Ren, Rigamonti, Rone, Rosenson-Schloss, Rupprecht, Schnoor, Schultz, Taylor, Vanhee, Venkateswaran, Wang, Xu, Yelieev, Zeng, Zeng, Zoltan   +46 more
core   +1 more source

Demethylation using the epigenetic modifier, 5-azacytidine, increases the efficiency of transient transfection of macrophages

Journal of Lipid Research, 2005
This study was aimed at developing a method for high-efficiency transient transfection of macrophages. Seven methods were evaluated for transient transfection of murine macrophage RAW 264.7 cells.
Geneviève Escher, Anh Hoang, Suzan Georges, Urbain Tchoua, Assam El-Osta, Zygmunt Krozowski, Dmitri Sviridov   +6 more
doaj   +1 more source

Klotho and vitamin D in multiple sclerosis: an Italian study [PDF]

, 2020
Introduction Low vitamin D levels have been recognised as an important risk factor for autoimmune diseases, including multiple sclerosis (MS). MS is a multifactorial disease, the pathogenesis of which contributes both to genetic and environmental ...
Bruna Lo Sasso, Caterina Maria Gambino, Chiara Bellia, Concetta Scazzone, Giorgia Iacolino, Giulia Bivona, Giuseppe Salemi, Luisa Agnello, Marcello Ciaccio, Paolo Ragonese, Sabrina Realmuto   +10 more
core   +1 more source

A Multifaceted Interplay Among Hemophagocytosis, Interleukin‐18, and Type I Interferon Distinguishes Still Disease From Other Autoinflammatory Diseases

Arthritis &Rheumatology, EarlyView.
Objective The unknown pathophysiology and the lack of specific features for systemic juvenile idiopathic arthritis and adult‐onset Still disease (collectively known as Still disease; SD) delay diagnosis and appropriate treatment. The goal of this study was to identify features and mechanisms that distinguish SD from other systemic autoinflammatory ...
Yvonne M. Mueller, Charlotte Girard, Harmen J. G. van de Werken, Stefan J. Erkeland, Dwin G. B. Grashof, Laurie Vaillant, Renske J. H. den Dekker, Iris van Zuijen, Sharon Veenbergen, Fanny Coffin, Eric Bindels, Yvan Jamilloux, Katerina Laskari, Vassili Soumelis, Bruno Fautrel, Cem Gabay, Peter D. Katsikis   +16 more
wiley   +1 more source

The Roles of Blood Lipid-Metabolism Genes in Immune Infiltration Could Promote the Development of IDD

Frontiers in Cell and Developmental Biology, 2022
Objectives: Intervertebral disc degeneration is a progressive and chronic disease, usually manifesting as low back pain. This study aimed to screen effective biomarkers for medical practice as well as figuring out immune infiltration situations between ...
Weihang Li, Ziyi Ding, Huan Zhang, Quan Shi, Quan Shi, Dong Wang, Dong Wang, Shilei Zhang, Songjie Xu, Bo Gao, Ming Yan   +10 more
doaj   +1 more source

Phytochemicals in MASLD: A Focused Review of Gut Microbiome‐Linked Mechanisms

Phytotherapy Research, EarlyView.
ABSTRACT Metabolic dysfunction‐associated steatotic liver disease (MASLD) has emerged as a major global health burden, yet effective pharmacological options remain limited. Recent advances highlight the gut microbiome as a key modulator of liver metabolism, inflammation, and fibrosis, making it a promising therapeutic target.
Jeong In Seo, Su Min Kim, Hye Hyun Yoo
wiley   +1 more source