Results 21 to 30 of about 10,369 (237)

A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]

Mol Syndromol
Introduction Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder characterized by the accumulation of cholesterol and cholestanol in various tissues.
Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T.   +5 more
europepmc   +2 more sources

Tissue specific role of ABCA1 in lung cholesterol homeostasis under high-cholesterol diet [PDF]

Frontiers in Nutrition
BackgroundATP-binding cassette subfamily A1 (ABCA1) and sterol 27-hydroxylase (CYP27A1) are essential regulators of cholesterol metabolism. However, their tissue-specific roles, particularly in the lung, under high-cholesterol diet (HCD) conditions ...
Jian Ma, Jian Ma, Zhongwen Gong, Hong Lu, Han Yang, Shengquan Wang, Qian Zhu, Hongya Liu, Yongjia Li, Yuemei Zhang, Xuemei Lian, Xuemei Lian   +11 more
doaj   +2 more sources

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Dermatologica Sinica, 2018
Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao   +3 more
doaj   +2 more sources

PXR induces CYP27A1 and regulates cholesterol metabolism in the intestine [PDF]

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   +3 more sources

The Associations of Novel Vitamin D3 Metabolic Gene CYP27A1 Polymorphism, Adiponectin/Leptin Ratio, and Metabolic Syndrome in Middle-Aged Taiwanese Males [PDF]

International Journal of Endocrinology, 2015
Metabolic syndrome (MetS) confers increased risks of cardiovascular disease (CVD). Both vitamin D3 and adipocytokines (especially adiponectin and leptin) have a great impact on CVD and MetS.
Kai-Hung Cheng, Edward Hsi, Chia-Chu Liu, Chun-Nung Huang, Yung-Chin Lee, Chih-Sheng Chu, Bo-Ying Bao, Chu-Fen Chang, Shu-Pin Huang, Po-Lin Kuo, Wen-Ter Lai   +10 more
doaj   +2 more sources

CYP27A1 expression is associated with risk of late lethal estrogen receptor-positive breast cancer in postmenopausal patients

Breast Cancer Research, 2020
Background 27-Hydroxycholesterol (27HC) stimulates estrogen receptor-positive (ER+) breast cancer (BC) progression. Inhibiting the sterol 27-hydroxylase (CYP27A1) abrogates these growth-promoting effects of 27HC in mice.
Siker Kimbung, Maria Inasu, Tor Stålhammar, Björn Nodin, Karin Elebro, Helga Tryggvadottir, Maria Ygland Rödström, Karin Jirström, Karolin Isaksson, Helena Jernström, Signe Borgquist   +10 more
doaj   +2 more sources

A new CYP27A1 mutation in a case of cerebrotendinous xanthomatosis

Neurología (English Edition), 2022
Shanyun Zhang, Fuping Qian, Bo Yuan, Yubin Guo   +3 more
semanticscholar   +4 more sources

A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family

Annals of Movement Disorders, 2022
Cerebrotendinous xanthomatosis is a rare and underreported lipid storage disorder caused by various mutations in the CYP27A1 gene. Here, we report a novel homozygous mutation in the CYP27A1 gene in an Indian family.
Shilpi Shukla, Harshad Chovatiya, Uzma Shamim, Mohammed Faruq, Soaham Desai   +4 more
doaj   +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   +2 more sources

34P Premenopausal breast cancer and CYP27A1 expression: A cholesterol-associated biomarker [PDF]

ESMO Open
J. Skovbjerg, Deirdre Cronin‐Fenton, Kristina Lystlund Lauridsen, Thomas P. Ahern, Stephen Hamilton‐Dutoit, Signe Borgquist   +5 more
semanticscholar   +3 more sources