Results 71 to 80 of about 6,856 (158)

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

Stem Cell Research, 2016
Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1.
Philip Höflinger, Stefan Hauser, Yvonne Theurer, Stefanie Weißenberger, Carlo Wilke, Ludger Schöls   +5 more
doaj   +1 more source

Preliminary investigation of CYP27A1 regulation by inflammatory stimuli in hGF and hPDLC.

, 2013
hGF and hPDLC from donors 2, 3, 4 and 5 were stimulated with different treatments indicated in the figure for 24 h, and CYP27A1 mRNA expression was determined by real-time PCR.
Jianxia Hou (294610), Kaining Liu (294608), Huanxin Meng (294609)   +2 more
core   +1 more source

Effect of increasing the expression of cholesterol transporters (StAR, MLN64, and SCP-2) on bile acid synthesis

Journal of Lipid Research, 2004
There are two major pathways of bile acid synthesis: the “neutral” pathway, initiated by highly regulated microsomal cholesterol 7α-hydroxylase (CYP7A1), and an “alternative” pathway, initiated by mitochondrial sterol 27-hydroxylase (CYP27A1).
Shunlin Ren, Phillip Hylemon, Dalila Marques, Elizabeth Hall, Kaye Redford, Gregorio Gil, William M. Pandak   +6 more
doaj   +1 more source

Hormonal regulation of the human sterol 27-hydroxylase gene CYP27A1

, 2003
The mitochondrial sterol 27-hydroxylase (CYP27A1) is a multifunctional cytochrome P450 enzyme that catalyses important hydroxylations in the biosynthesis of bile acids and bioactivation of vitamin D3. Previous results [Babiker, Andersson, Lund, Xiu, Deeb,
Wikvall, Kjell,, Araya, Zufan,, Tang, Wanjin,   +2 more
core  

Impact of 27-hydroxylase (CYP27A1) and 27-hydroxycholesterol in breast cancer

, 2017
The impact of systemic 27-hydroxycholesterol (27HC) and intratumoral CYP27A1 expression on pathobiology and clinical response to statins in breast cancer needs clarification.
Ching-yi Chang, Pär-Ola Bendahl, Donald P McDonnell, Thompson, J Will, Siker Kimbung, Laura Dubois, Borgquist, Signe, McDonnell, Donald P, J Will Thompson, Bendahl, Pär-Ola, Dubois, Laura, Kimbung, Siker, Chang, Ching-Yi, Signe Borgquist   +13 more
core   +1 more source

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis

Frontiers in Neurology
ObjectiveThis study aims to analyze the clinical and genetic characteristics of cerebrotendinous xanthomatosis (CTX) in a Chinese family.MethodsClinical data, including medical history, neurologic and auxiliary examinations, imaging studies, and genetic ...
You Guoliang, Wang Zhaoxia, Zhang Lin, Chen Xuan, Zhang Xiaodong, Xing Xiaolian, Su Yangli, Zhang Tianli, Zhu Yanping, Wang Jiangping, Liu Qing   +10 more
doaj   +1 more source

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

BMC Neurology, 2011
Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
doaj   +1 more source

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis [PDF]

, 2021
CTX is a rare congenital lipid-storage disorder, leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene.
Kahrizi, Kimia, Rashvand, Zahra, Najmabadi, Hossein, Najafipour, Reza, Omrani, Mir Davood   +4 more
core  

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +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,
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