Results 31 to 40 of about 6,856 (158)

Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report

Egyptian Journal of Medical Human Genetics, 2023
Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It is caused by mutations in the CYP27A1 gene which encodes the mitochondrial enzyme sterol 27-hydroxylase.
Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Sorour Inaloo, Bita Geramizadeh   +4 more
doaj   +1 more source

Hormonal Regulation of the Human CYP27A1 and CYP7B1 Genes

, 2007
CYP27A1 and CYP7B1 are widely expressed in various human tissues and are two key enzymes involved in the pathways for conversion of cholesterol to bile acids.
Tang, Wanjin
core   +2 more sources

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

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

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

Integrated assessment of rifampicin‐mediated induction of transporters and drug‐metabolizing enzymes in a long‐term human liver tissue chip system

Clinical Pharmacology &Therapeutics, EarlyView.
Rifampicin is a prototypical clinical inducer used in drug–drug interaction (DDI) studies. However, the clinical relevance and predictability of rifampicin‐mediated hepatic transporter induction remain poorly defined. Conventional hepatocyte culture models fail to capture clinically relevant regulation of transporters and drug‐metabolizing enzymes ...
Mattie E. Hartauer, Raeanne M. Lanphier, Shivam Ohri, Jessica Snyder, Jacqueline B. Tiley, John K. Fallon, Henry Ho, Murat Cirit, Shiny Amala Priya Rajan, Kim L. R. Brouwer   +9 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

Conserved SERPINE2 function maintains ovarian estrogen production to support fertility in goats and mice

iMetaOmics, EarlyView.
Single‐nucleus RNA sequencing and functional profiling of goat ovaries with divergent litter sizes revealed prolificacy‐associated granulosa cell (GC) states characterized by enhanced proliferation‐ and steroidogenesis‐related features, together with altered predicted cell–cell communication.
Sanbao Zhang, Yirong Wei, Xiaoping Guo, Ruimen Zhang, Yingming Wei, Yanna Huang, Qinyang Jiang   +6 more
wiley   +1 more source

Downregulation of Cyp7a1 by Cholic Acid and Chenodeoxycholic Acid in Cyp27a1/ApoE Double Knockout Mice: Differential Cardiovascular Outcome. [PDF]

, 2020
Sterol 27-hydroxylase (CYP27A1) is a key enzyme in bile acids (BAs) biosynthesis and a regulator of cholesterol metabolism. Cyp27a1/Apolipoprotein E double knockout (DKO) mice fed with western diet (WD) are protected from atherosclerosis via up ...
Sviridov, Dmitri, Zurkinden, Line, Vogt, Bruno, Escher, Genevieve   +3 more
core   +2 more sources

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

Frontiers in Pediatrics, 2021
Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis.
Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska   +8 more
doaj   +1 more source