Results 1 to 10 of about 5,997 (130)

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice. [PDF]

JPGN Rep
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
DeBarber AE, Fowler M, Barton Duell P, Dybbro E.   +3 more
europepmc   +2 more sources

Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant [PDF]

BMC Ophthalmology
Background Cerebrotendinous xanthomatosis (CTX) is a rare yet treatable neurometabolic disorder caused by pathogenic variants in the CYP27A1 gene. Juvenile-onset cataracts may precede systemic signs, allowing for early diagnosis. This study evaluated the
Ali Ceylan, Serkan Güler, Fahri Onur Aydin, Yusuf Berk Akbas, Burcin Kepez Yildiz, Yusuf Yildirim   +5 more
doaj   +2 more sources

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACTBile acid Coenzyme A: amino acid N‐acyltransferase (BAAT) catalyzes the conjugation of bile acids with taurine or glycine, a process essential for bile acid solubility and intestinal lipid absorption. Mutations in BAAT cause an inborn error of bile acid metabolism, typically characterized by reduced conjugated bile acids and fat‐soluble vitamin
Koga S, Takei H, Tamura R, Takaki Y, Kusuhara H, Nittono H, Hayashi H.   +6 more
europepmc   +2 more sources

Integrative multi-omics and machine learning reveals the spatial niche distribution and role of CYP27A1+TAMs in immunotherapy response in non-small cell lung cancer [PDF]

Frontiers in Immunology
BackgroundThe response rate to immune checkpoint blockade (ICB) in non-small cell lung cancer (NSCLC) varies significantly among individuals. Cancer-associated macrophages (TAMs) are key components of the tumor immune microenvironment (TIME), influencing
Qingsheng Liu, Xufeng Liu, Han Zhang, Yuhang Jiang, Ying Shi, Qiuqiao Mu, Yuhao Jing, Daqiang Sun   +7 more
doaj   +2 more sources

CYP27A1-27-hydroxycholesterol axis in the respiratory system contributes to house dust mite-induced allergic airway inflammation

Allergology International
Background: 27-Hydroxycholesterol (27-HC) derived from sterol 27-hydroxylase (CYP27A1) has pro-inflammatory biological activity and is associated with oxidative stress and chronic inflammation in COPD.
Yorihiko Kyogoku
exaly   +3 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

CYP27A1 suppresses brain metastasis via ferroptosis in lung adenocarcinoma: a six-gene signature predicting the immunotherapy response and clinical outcomes [PDF]

Cancer Cell International
Background: Lung adenocarcinoma (LUAD) brain metastasis has limited therapeutic options and a poor prognosis. This study aimed to identify molecular drivers, construct a prognostic model, and assess immunotherapy response.
Lu Xu, Liyou Huang, Zihao Liu, Xiaojie Jiang, Linchun Wen   +4 more
doaj   +2 more sources

Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report [PDF]

Journal of Medical Case Reports
Background Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially ...
Yushi Oyama, Keishiro Okawa, Takuya Miyagi, Takahiro Sakai, Kyuhachi Otagiri, Hiroshi Kitabayashi   +5 more
doaj   +2 more sources

CYP27A1 deficiency promoted osteoclast differentiation [PDF]

PeerJ, 2023
Background The elevating osteoclast differentiation can lead to an imbalance in bone homeostasis, which was responsible for bone loss and bone diseases, such as osteoporosis. Multiple pathways and molecules have been involved in osteoclast formation, but
Ziqi Fang, Guangdong Cheng, Mengting He, Yanliang Lin   +3 more
doaj   +2 more sources

Molecular cloning, expression analysis and functional characterization of chicken cytochrome P450 27A1: A novel mitochondrial vitamin D3 25-hydroxylase

Poultry Science, 2023
: Vitamin D3 is hydroxylated by cytochrome P450 (CYP) before exerting biological effects. The chicken CYP involved in vitamin D3 25-hydroxylation has yet to be cloned, and little is known about its functional characteristics, tissue distribution, and ...
S. Shang, Z. He, W. Hou, X. Chen, X. Zhao, H. Han, S. Chen, S. Yang, F. Tai   +8 more
doaj   +1 more source