Results 31 to 40 of about 5,510 (174)

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

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

PXR induces CYP27A1 and regulates cholesterol metabolism in the intestine

Journal of Lipid Research, 2007
Mitochondrial sterol 27-hydroxylase (CYP27A1) catalyzes oxidative cleavage of the sterol side chain in the bile acid biosynthetic pathway in the liver and 27-hydroxylation of cholesterol in most tissues. Recent studies suggest that 27-hydroxycholesterol (
Tiangang Li, Wenling Chen, John Y.L. Chiang   +2 more
doaj   +1 more source

Inhibition of Marek’s Disease Virus Replication and Spread by 25-hydroxycholesterol and 27-hydroxycholesterol In Vitro

Viruses, 2023
Marek’s disease virus (MDV) causes a deadly lymphoproliferative disease in chickens, resulting in huge economic losses in the poultry industry. It has been suggested that MDV suppresses the induction of type I interferons and thus escapes immune control.
Nitin Kamble, Vishwanatha R. A. P. Reddy, Ben Jackson, Faisal R. Anjum, Chidiebere C. Ubachukwu, Ajit Patil, Shahriar Behboudi   +6 more
doaj   +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

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

Hematopoietic overexpression of Cyp27a1 reduces hepatic inflammation independently of 27-hydroxycholesterol levels in Ldlr(-/-) mice [PDF]

, 2015
Background & Aims: Non-alcoholic steatohepatitis (NASH) is characterized by hepatic lipid accumulation and inflammation. Currently, the underlying mechanisms, leading to hepatic inflammation, are still unknown.
Luetjohann, D., Gijbels, M.J., Hofker, M.H., Jeurissen, Mike L.J., Houben, Tom, Shiri-Sverdlov, Ronit; id_orcid, Leitersdorf, E., Verheyen, F., Walenbergh, Sofie M.A., van Gorp, Patrick J., Bieghs, V., Guichot, Y. D., van Gorp, Patrick J.; id_orcid, Hendrikx, Tim, Shiri-Sverdlov, Ronit   +14 more
core   +1 more source

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Epilepsy & Behavior Reports, 2021
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with
Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari   +6 more
doaj   +1 more source

A rare metabolic disease: cerebrotendinous xanthomatosis

Van Tıp Dergisi, 2019
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2.
Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu   +6 more
doaj   +1 more source

miR‑204 functions as a tumor suppressor gene, at least partly by suppressing CYP27A1 in glioblastoma

Oncology Letters, 2018
Gliomas are the most common type of malignant primary brain tumors in adults and exhibit a spectrum of aberrantly aggressive phenotypes. Despite advances in treatments during past decades, prognosis of the disease remains poor, with a median survival time of 12-14 months.
Xin, Jun, Zheng, Li-Min, Sun, De-Ke, Li, Xian-Feng, Xu, Peng, Tian, Li-Qiang   +5 more
openaire   +3 more sources