Results 81 to 90 of about 5,510 (174)

Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.

, 2010
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. We analyzed the CYP27A1 gene in two Japanese CTX patients.
Kobayashi, Junji, Mabuchi, Hiroshi, Nozue, Tsuyoshi, Higashikata, Toshinori, Yamagishi, Masakazu, Inazu, Akihiro, Nohara, Atsushi, Koizumi, Junji, Kawashiri, Masa-aki   +8 more
core   +2 more sources

Integration of single‐cell and bulk transcriptomics reveals the association of manganese metabolism‐related genes with prognosis and immune infiltration in lung adenocarcinoma

Clinical &Translational Immunology, Volume 15, Issue 3, 2026.
This study developed a prognostic model for lung adenocarcinoma using manganese metabolism‐related genes (MRGs). Nine key MRGs were identified via multi‐omics and LASSO‐Cox analyses to calculate a risk score. The model showed robust predictive performance in both training and validation cohorts.
Hongliang Li, Shuzhen Wei, Wei Li, Junxia Sun, Yi Wang   +4 more
wiley   +1 more source

Studies on sterol 27-hydroxylase (CYP27A1)

, 2004
Human sterol 27-hydroxylase (CYP27A1) has been studied in the present thesis with focus on substrate specificity and possible role of the enzyme for prevention of accumulation of cholesterol and cholestanol in tissues. Attempts have been made to evaluate
Sara von Bahr (19525159)
core  

Sterol 27-hydroxylase gene dosage and the antiatherosclerotic effect of Rifampicin in mice. [PDF]

, 2018
Sterol 27-hydroxylase (CYP27A1) catalyzes the hydroxylation of cholesterol to 27-hydroxycholesterol (27-OHC) and regulates cholesterol homeostasis.
Escher, Geneviève, Bruno Vogt, Sviridov, Dmitri, Line Zurkinden, Zurkinden, Line, Geneviève Escher, Vogt, Bruno, Dmitri Sviridov   +7 more
core   +1 more source

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Orphanet Journal of Rare Diseases, 2019
Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu   +5 more
doaj   +1 more source

A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in <i>CYP27A1</i> gene exon 1

Rinsho Shinkeigaku, 2016
A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage.
Junpei, Koge, Shintaro, Hayashi, Hiroo, Yamaguchi, Takahisa, Tateishi, Hiroyuki, Murai, Jun-Ichi, Kira   +5 more
openaire   +3 more sources

Compared Effect of Immunosuppressive Drugs Cyclosporine A and Rapamycin on Cholesterol Homeostasis Key Enzymes CYP27A1 and HMG‐CoA Reductase

, 2007
International audienceHyperlipidaemia, i.e. increase in total cholesterol and triglycerides, is a common side-effect of the immunosuppressive drugs rapamycin (RAPA) and cyclosporine A (CsA), and is probably related to inhibition of the 27-hydroxylation ...
Visvikis, Sophie, Souidi, Maamar, Luc Ferrari, Anne‐Marie Batt, Claude Lutton, Batt, Anne-Marie, Yann Gueguen, Maâmar Souidi, Gueguen, Yann, Ferrari, Luc, Gérard Siest, Sophie Visvikis, Lutton, Claude, Siest, Gérard   +13 more
core   +1 more source

Studies on sterol 27-hydroxylase (CYP27A1) [Elektronisk resurs]

, 2004
Human sterol 27-hydroxylase (CYP27A1) has been studied in the present thesis with focus on substrate specificity and possible role of the enzyme for prevention of accumulation of cholesterol and cholestanol in tissues. Attempts have been made to evaluate
Bahr, SV,
core  

The Associations of Novel Vitamin D 3 Metabolic Gene CYP27A1 Polymorphism, Adiponectin/Leptin Ratio, and Metabolic Syndrome in Middle-Aged Taiwanese Males

, 2020
Metabolic syndrome (MetS) confers increased risks of cardiovascular disease (CVD). Both vitamin D 3 and adipocytokines (especially adiponectin and leptin) have a great impact on CVD and MetS.
Po-Lin Kuo, Edward Hsi, Wen-Ter Lai, Kai-Hung Cheng, Chih-Sheng Chu, Bo-Ying Bao, Yung-Chin Lee, Chia-Chu Liu, Chu-Fen Chang, Shu-Pin Huang, Chun-Nung Huang   +10 more
core  

Cholesterol, oxysterol, triglyceride, and coenzyme Q homeostasis in ALS. Evidence against the hypothesis that elevated 27-hydroxycholesterol is a pathogenic factor.

PLoS ONE, 2014
High plasma levels of cholesterol have been suggested to be neuroprotective for the degenerative disease amyotrophic lateral sclerosis (ALS) and to be associated with increased survival time.
Anna Wuolikainen, Jure Acimovic, Anita Lövgren-Sandblom, Paolo Parini, Peter M Andersen, Ingemar Björkhem, Ingemar Björkhem   +6 more
doaj   +1 more source