Results 151 to 160 of about 5,510 (174)
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Journal of Orthopaedic Science, 2011
Abstract Cerebrotendinous xanthomatosis (CTX, OMIM: 213700) is a rare inherited autosomal recessive lipid storage disorder with multiple system involvement. The disease is caused by mutations in the gene encoding sterol 27-hydroxylase (CYP27A1), leading to a block in bile synthesis, with accumulation of substrates for this enzyme, including ...
Wen-Chau, Chen +4 more
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Abstract Cerebrotendinous xanthomatosis (CTX, OMIM: 213700) is a rare inherited autosomal recessive lipid storage disorder with multiple system involvement. The disease is caused by mutations in the gene encoding sterol 27-hydroxylase (CYP27A1), leading to a block in bile synthesis, with accumulation of substrates for this enzyme, including ...
Wen-Chau, Chen +4 more
openaire +2 more sources
Gene, 2003
Mitochondrial sterol 27-hydroxylase (CYP27A1) catalyses sterol side-chain oxidation of bile acid synthesis from cholesterol, and the first reaction of the acidic bile acid biosynthetic pathway. Hydrophobic bile acids suppress human CYP27A1 gene reporter activity when assayed in human hepatocellular blastoma HepG2 cells.
Wenling, Chen, John Y L, Chiang
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Mitochondrial sterol 27-hydroxylase (CYP27A1) catalyses sterol side-chain oxidation of bile acid synthesis from cholesterol, and the first reaction of the acidic bile acid biosynthetic pathway. Hydrophobic bile acids suppress human CYP27A1 gene reporter activity when assayed in human hepatocellular blastoma HepG2 cells.
Wenling, Chen, John Y L, Chiang
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International Journal of Neuroscience
Cerebrotendinous xanthomatosis is a disease with important clinical and molecular heterogeneity. CYP27A1 gene was described as the cause of these defects, with more than 50 mutations involved in the disease. The objective of this study was to carry out a genetic study and a clinical description of a patient with unusual clinical manifestation of the ...
Francisco A, Tama Viteri +3 more
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Cerebrotendinous xanthomatosis is a disease with important clinical and molecular heterogeneity. CYP27A1 gene was described as the cause of these defects, with more than 50 mutations involved in the disease. The objective of this study was to carry out a genetic study and a clinical description of a patient with unusual clinical manifestation of the ...
Francisco A, Tama Viteri +3 more
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Journal of Internal Medicine, 2017
Cerebrotendinous xanthomatosis (CTX) is a rare recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase. The disease is characterized by tendon xanthomas, juvenile cataract, progressive dementia, chronic diarrhea, osteoporosis, ataxia and premature atherosclerosis.
H. Jiao +6 more
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Cerebrotendinous xanthomatosis (CTX) is a rare recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase. The disease is characterized by tendon xanthomas, juvenile cataract, progressive dementia, chronic diarrhea, osteoporosis, ataxia and premature atherosclerosis.
H. Jiao +6 more
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Association of CYP27A1 and CYP27B1 genes polymorphisms with multiple sclerosis in Iraqi patients
AIP Conference Proceedings, 2022Omar Muhammed, Salwa Al-Rubae’i
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