Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates. [PDF]
Sci Rep, 2023 Huo A, Wang F.
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Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait. [PDF]
Front Endocrinol (Lausanne), 2023 Rahman A +9 more
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Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings. [PDF]
Genes (Basel), 2022 Agnello L +8 more
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CYP27A1 deficiency promoted osteoclast differentiation. [PDF]
PeerJ, 2023 Fang Z, Cheng G, He M, Lin Y.
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Vitamin D-Related Genetic Variations and Nonalcoholic Fatty Liver Disease: A Systematic Review. [PDF]
Int J Mol Sci, 2022 Jaroenlapnopparat A +3 more
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Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]
Int J Mol SciPachajoa H, Bonilla S, Nieva-Posso DA.
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TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1. [PDF]
Cell Death Dis, 2023 Wang X +8 more
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Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report. [PDF]
J Med Case RepOyama Y +5 more
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Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. [PDF]
BMC Neurol, 2022 Koyama S +8 more
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Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX. [PDF]
Orphanet J Rare DisDel Monte MA, Hanson J, Bonnen PE.
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