Results 91 to 100 of about 5,510 (174)

Hormonal Regulation of the Human CYP27A1 and CYP7B1 Genes [Elektronisk resurs]

, 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.
Norlin, Maria, Gåfvels, Mats,, Wikvall, Kjell, Tang, Wanjin,   +3 more
core  

Abstract 5635: Vitamin D supplementation decreases serum 27-hydroxycholesterol and expression of CYP27A1 in tumors of breast cancer patients

, 2017
The goal of this study was to investigate whether vitamin D regulates the conversion of cholesterol to 27-hydroxycholesterol (27HC), an endogenous selective estrogen receptor modulator (SERM) that can act as a driver of estrogen receptor positive (ER ...
Melinda Telli, David Feldman, Catherine Going, Kristin Jensen, Christine Yeh, Ludmila Alexandrova, Ken Lau, Sharon Pitteri   +7 more
core   +1 more source

An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis

Reports
Background and Clinical Significance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents
Mariya Levkova, Mari Hachmeriyan, Margarita Grudkova, Mihael Tsalta-Mladenov, Ara Kaprelyan   +4 more
doaj   +1 more source

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase

, 2007
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase.
Meaney, S., S. von Bahr, von Bahr, S., M. Hansson, M. Olin, Hansson, M., Eggertsen, G., Bjorkhem, I., G. Eggertsen, van't Hooft, F., S. Meaney, Florén, Claes-Henrik, Olin, M., I. Björkhem, C.-H. Floren, F. van't Hooft   +15 more
core   +1 more source

SNPs in cytochromes P450 catalyzing cholesterol degradation in brain are associated with Parkinson’s disease

Frontiers in Pharmacology
Besides being an essential structural component of plasma membranes and the precursor of many functional compounds and signaling molecules, cholesterol was also proposed to play a role in the etiology and/or manifestation of Parkinson’s disease (PD ...
Polina Petkova-Kirova, Polina Petkova-Kirova, Anastasia Kolchina, Stephan Baas, Gudrun Wagenpfeil, Marcus Michael Unger, Julia Maria Schulze-Hentrich, Rita Bernhardt   +7 more
doaj   +1 more source

Regional linkage disequilibrium (LD) near the CYP27A1 locus on chromosome 2.

, 2012
Top: the position of GWAS SNPs and RefSeq genes located within the regional LD block are drawn. On the X-axis, genomic position in kb, aligned to NCBI genome build 36 coordinates.
Hylke M. Blauw (172237), Albert Hofman (107303), Wouter van Rheenen (172229), Ammar Al-Chalabi (58021), Robert H. Brown Jr. (157813), Ritsert C. Jansen (32125), Vincent Meininger (136286), Leonard H. van den Berg (119440), Judith Melki (172253), John E. Landers (172264), Michael A. van Es (119418), Jan H. Veldink (119438), Lude Franke (102406), Christopher E. Shaw (85395), P. Nigel Leigh (172275), Orla Hardiman (23292), Frank P. Diekstra (172218), Steve Horvath (28847), Wim Robberecht (172245), Peter M. Andersen (172248), Christiaan G. J. Saris (172223), Paul W. J. van Vught (172235), Ewout J. N. Groen (172239), Karol Estrada (149937), Andre G. Uitterlinden (89938), Aleksey Shatunov (172270), Fernando Rivadeneira (61551), Roel A. Ophoff (155472)   +27 more
core   +1 more source

Gene expression profiling identifies retinoids as potent inducers of macrophage lipid efflux

, 2005
Vitamin A and its naturally occurring derivatives 9-cis retinoic acid (9-cis RA) and all-trans retinoic acid (ATRA) exert a variety of biological effects including immunomodulation, growth, differentiation, and apoptosis of normal and neoblastic cells ...
Schifferer, Rainer, Moehle, Christoph, Dayoub, Rania, Grandl, Margot, Schmitz, Gerd, Langmann, Thomas, Heiduczek, Susanne, Liebisch, Gerhard, Dada, Ashraf   +8 more
core   +1 more source

Identification of gene signatures and molecular mechanisms underlying the mutual exclusion between psoriasis and leprosy

Scientific Reports
Leprosy and psoriasis rarely coexist, the specific molecular mechanisms underlying their mutual exclusion have not been extensively investigated. This study aimed to reveal the underlying mechanism responsible for the mutual exclusion between psoriasis ...
You-Wang Lu, Rong-Jing Dong, Lu-Hui Yang, Jiang Liu, Ting Yang, Yong-Hong Xiao, Yong-Jun Chen, Rui-Rui Wang, Yu-Ye Li   +8 more
doaj   +1 more source

Relationship between rs4674344 CYP27A1 gene polymorphism and coronary artery disease in a Polish population

Kardiologia Polska, 2020
Joanna, Iwanicka, Tomasz, Iwanicki, Anna, Balcerzyk, Paweł, Niemiec, Tomasz, Nowak, Jolanta, Krauze, Wanda, Trautsolt, Anna, Ochalska-Tyka, Władysław, Grzeszczak, Iwona, Żak   +9 more
openaire   +2 more sources

Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy

Orphanet Journal of Rare Diseases
Cerebrotendinous xanthomatosis (CTX) is a rare treatable bile acid disorder caused by homozygous or compound heterozygous variants in CYP27A, a gene that encodes the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1). CYP27A1 facilitates the production
Gary Pasternack, Jeff Courtney, Gurdyal Kalsi   +2 more
doaj   +1 more source