A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01267-4
Abstract: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of bile acid biosynthesis, due to the deficiency of mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 . The deficit of sterol… read more here.
Keywords: cyp27a1; involvement; cerebrotendinous xanthomatosis; tendon xanthomas ... See more keywords
Abstract 5635: Vitamin D supplementation decreases serum 27-hydroxycholesterol and expression of CYP27A1 in tumors of breast cancer patients
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DOI: 10.1158/1538-7445.am2017-5635
Abstract: The goal of this study was to investigate whether vitamin D regulates the conversion of cholesterol to 27-hydroxycholesterol (27HC), an endogenous selective estrogen receptor modulator (SERM) that can act as a driver of estrogen receptor… read more here.
Keywords: dose; cyp27a1; breast cancer; expression ... See more keywords
Relationship between rs4674344 CYP27A1 gene polymorphism and coronary artery disease in Polish population.
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DOI: 10.33963/kp.15071
Abstract: Methods Patients We studied 445 white pa‐ tients divided into 2 groups. The first group in‐ cluded 220 patients (59 women and 161 men) with angiographically confirmed premature CAD. The second group comprised 225 blood… read more here.
Keywords: cardiology; cyp27a1; cad; blood ... See more keywords