Results 41 to 50 of about 5,510 (174)
Сerebrotendinous xanthomatosis
Анналы клинической и экспериментальной неврологии, 2017 Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1.
G. E. Rudenskaya, E. Yu. Zakharova
doaj +1 more source
BMC Medical Genomics, 2023 Objective To identify the genetic mechanisms underlying lipid metabolism-mediated tumor immunity in head and neck squamous carcinoma (HNSC). Materials and methods RNA sequencing data and clinical characteristics of HNSC patients were procured from The ...
Shaokun Liu, Shuning Wang, Zhenlin Wang
doaj +1 more source
Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1−/− mouse brain and plasma [PDF]
, 2019 Cytochrome P450 (CYP) 27A1 is a key enzyme in both the acidic and neutral pathways of bile acid biosynthesis accepting cholesterol and ring-hydroxylated sterols as substrates introducing a (25R)26-hydroxy and ultimately a (25R)26-acid group to the sterol
Spyridon Theofilopoulos +6 more
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Role of CYP27A1 in progesterone metabolism in vitro and in vivo
, 2009 In the kidney, progesterone is inactivated to 20alpha-dihydro-progesterone (20alpha-DH-progesterone) to protect the mineralocorticoid receptor from progesterone excess.
Krozowski, Zygmunt +6 more
core +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 +4 more
core
A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
Journal of Investigative Medicine High Impact Case Reports, 2023 Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid.
Hamed Ghoshouni MD +4 more
doaj +1 more source
Advanced Science, EarlyView.Nanocellulose, derived from microcrystalline cellulose (MCC) through sulfuric acid hydrolysis or mechanical grinding to produce CNC or CNF, was tested in a rat ICP model. Particularly, CNF improved gut microbiota composition, reduced secondary bile acid metabolism, and restored bile acid homeostasis through modulation of the gut–liver axis.
Muhua Yu +18 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective The unknown pathophysiology and the lack of specific features for systemic juvenile idiopathic arthritis and adult‐onset Still disease (collectively known as Still disease; SD) delay diagnosis and appropriate treatment. The goal of this study was to identify features and mechanisms that distinguish SD from other systemic autoinflammatory ...
Yvonne M. Mueller +16 more
wiley +1 more source
Internal medicine (Tokyo, Japan), 2014 We herein describe the case of a Japanese cerebrotendinous xanthomatosis (CTX) patient with a novel CYP27A1 gene mutation. The patient had been diagnosed with cataracts at 25 years of age and subsequently developed neurological symptoms in his forties, being referred to our hospital at 47 years of age.
Yoshinaga, Tsuneaki +6 more
openaire +4 more sources
Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023 Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation of the disease is quite wide.
Sinan Eliaçık, Gülsüm Çil
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