Results 21 to 30 of about 5,510 (174)
2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis [PDF]
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 +2 more sources
Hormonal Regulation of the Human CYP27A1 and CYP7B1 Genes
, 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. Also, CYP27A1 is involved in bioactivation of vitamin D3 and CYP7B1 plays a role in 7alpha-hydroxylation of dehydroepiandrosterone and other steroids.
Tang, Wanjin
openaire +2 more sources
Biochemical Journal, 2018 Macrophage foam cells store excess cholesterol as cholesteryl esters, which need to be hydrolyzed for cholesterol efflux. We recently reported that silencing expression of carboxylesterase 1 (CES1) in human THP-1 macrophages [CES1KD (THP-1 cells with CES1 expression knocked down) macrophages] reduced cholesterol uptake and decreased expression of CD36 ...
Lee C, Mangum +5 more
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Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient
Annals of Medical Research, 2020 Cerebrotendinous xanthomatosis (CTX) is a rare genetic metabolic disorder that inherited in an autosomal recessive trait; characterized by abnormal lipid storage.
Oguz Dikbas +4 more
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Circadian Clock Regulates Epidermal Endocrine System in Homeostatic Skin Pigmentation. [PDF]
Exp DermatolABSTRACT The circadian clock regulates multiple physiological processes in the skin, including local hormone synthesis and pigmentation. However, how circadian regulation interacts with epidermal endocrine signalling in melanocytes remains unclear.
Zhu A +5 more
europepmc +2 more sources
A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family
Annals of Movement Disorders, 2022 Cerebrotendinous xanthomatosis is a rare and underreported lipid storage disorder caused by various mutations in the CYP27A1 gene. Here, we report a novel homozygous mutation in the CYP27A1 gene in an Indian family.
Shilpi Shukla +4 more
doaj +1 more source
Polygenic Prediction of Equestrian Sport Discipline Among Horses Bred for Jumping and Dressage. [PDF]
Anim GenetABSTRACT Horses bred for different equestrian sports vary in physical, physiological and behavioural requirements. Characterising genetic markers associated with discipline provides an opportunity to improve identification of horses best suited to either jumping or dressage.
Hill EW +4 more
europepmc +2 more sources
Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report
Egyptian Journal of Medical Human Genetics, 2023 Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It is caused by mutations in the CYP27A1 gene which encodes the mitochondrial enzyme sterol 27-hydroxylase.
Zahra Beyzaei +4 more
doaj +1 more source
27-hydroxycholesterol and DNA damage repair: implication in prostate cancer
Frontiers in Oncology, 2023 IntroductionWe previously reported that cholesterol homeostasis in prostate cancer (PC) is regulated by 27-hydroxycholesterol (27HC) and that CYP27A1, the enzyme that converts cholesterol to 27HC, is frequently lost in PCs. We observed that restoring the
Gloria Cecilia Galvan +21 more
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