|
Arthritis, Psoriatic
|
0.010 |
Biomarker
|
disease |
BEFREE |
Additionally, 1,25(OH)2D significantly increased ATP levels and gene expression related to mitochondrial function such as carnitine palmitoyltransferase 1 (CPT1), peroxisome proliferator-activated receptor α (PPARα), very long-chain acyl-CoA dehydrogenase (VLCAD), long-chain acyl-CoA dehydrogenase (LCAD), medium-chain acyl-CoA dehydrogenase (MCAD), uncoupling protein 2 (UCP2), and UCP3 and the vitamin D pathway including 25-dihydroxyvitamin D3 24-hydroxylase (CYP24) and 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27) in PA-treated C2C12 myotubes.
|
31744213 |
2019 |
|
Malignant neoplasm of urinary bladder
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings all suggest that CYP27A1 is a critical cholesterol sensor in bladder cancer cells that may contribute significantly to bladder cancer proliferation.
|
30563407 |
2019 |
|
Bladder Neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings all suggest that CYP27A1 is a critical cholesterol sensor in bladder cancer cells that may contribute significantly to bladder cancer proliferation.
|
30563407 |
2019 |
|
Hepatitis C
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Impact of CYP2R1, CYP27A1 and CYP27B1 genetic polymorphisms controlling vitamin D metabolism on susceptibility to hepatitis C virus infection in a high-risk Chinese population.
|
31520221 |
2019 |
|
Impaired cognition
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment.
|
31796091 |
2019 |
|
Synthetic defect of bile acids
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations in CYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile alcohols.
|
31536098 |
2019 |
|
Carcinoma of bladder
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings all suggest that CYP27A1 is a critical cholesterol sensor in bladder cancer cells that may contribute significantly to bladder cancer proliferation.
|
30563407 |
2019 |
|
Congenital Bilateral Cataracts
|
0.010 |
Biomarker
|
disease |
BEFREE |
Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.
|
31536098 |
2019 |
|
Cardiovascular Diseases
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We tested the hypothesis that obese subjects who carry at least three copies of CYP27A1 low-hydroxylation (LH) activity genome-wide-validated alleles (rs4674345A, rs1554622A, and rs4674338G) present premature aging, as reflected in shorter LTL and higher levels of CVD/T2D risk factors, including reduced HDL-C.
|
29951035 |
2018 |
|
Diabetes
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Reduced Cyp27A1 and increased Cyp7B1 expressions in tumor suggest lower levels of protective estrogen receptor ligands in diabetes.
|
29249638 |
2018 |
|
Diabetes Mellitus
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Reduced Cyp27A1 and increased Cyp7B1 expressions in tumor suggest lower levels of protective estrogen receptor ligands in diabetes.
|
29249638 |
2018 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that T1D led to a decrease in blood 25OHD, which is probably due to the established downregulation of CYP27A1 and CYP2R1 expression.
|
29552033 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We tested the hypothesis that obese subjects who carry at least three copies of CYP27A1 low-hydroxylation (LH) activity genome-wide-validated alleles (rs4674345A, rs1554622A, and rs4674338G) present premature aging, as reflected in shorter LTL and higher levels of CVD/T2D risk factors, including reduced HDL-C.
|
29951035 |
2018 |
|
Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
CYP27A1 protein was upregulated in glioblastoma tissues, indicating that CYP27A1 is an oncogene.
|
30008822 |
2018 |
|
Adult Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
CYP27A1 protein was upregulated in glioblastoma tissues, indicating that CYP27A1 is an oncogene.
|
30008822 |
2018 |
|
Childhood Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
CYP27A1 protein was upregulated in glioblastoma tissues, indicating that CYP27A1 is an oncogene.
|
30008822 |
2018 |
|
Frontotemporal dementia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
WES also unraveled pathogenic mutations in genes not commonly linked to FTD, including mutations in Alzheimer (PSEN1, PSEN2), lysosomal (CTSF, 7-exon macro-deletion) and cholesterol homeostasis pathways (CYP27A1).ConclusionOur unbiased approach reveals a wide genetic spectrum underlying clinical FTD, including 11% of seemingly sporadic FTD.
|
28749476 |
2018 |
|
Autism Spectrum Disorders
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
No correlation was found between the presence of ASD and the level of cholestanol or CYP27A1 genotype.
|
28894950 |
2018 |
|
Glioblastoma Multiforme
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
CYP27A1 protein was upregulated in glioblastoma tissues, indicating that CYP27A1 is an oncogene.
|
30008822 |
2018 |
|
Non-Small Cell Lung Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The aim of the present study was to investigate the functions of <i>CYP27A1, CYP27B1</i> and <i>CYP24A1</i> expression in NSCLC.
|
29250167 |
2017 |
|
nervous system disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Four different mutations were identified in CYP27A1, including a reported pathogenic mutation for cerebrotendinous xanthomatosis (p.R405W), which was observed in six patients from a multi-incident family, three diagnosed with MS, two with an undefined neurological disease and one seemingly healthy.
|
28337550 |
2017 |
|
Nodule
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In humans, complete CYP27A1 deficiency leads to cerebrotendinous xanthomatosis or nodule formation in tendons and brain (preferentially in the cerebellum) rich in cholesterol and cholestanol, the 5α-saturated analog of cholesterol.
|
28190002 |
2017 |
|
Malignant neoplasm of lung
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Reverse transcription-quantitative polymerase chain reaction was applied to analyze <i>CYP27A1, CYP27B1</i> and <i>CYP24A1</i> mRNA expression in lung cancer tissues.
|
29250167 |
2017 |
|
Carcinoma of lung
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Reverse transcription-quantitative polymerase chain reaction was applied to analyze <i>CYP27A1, CYP27B1</i> and <i>CYP24A1</i> mRNA expression in lung cancer tissues.
|
29250167 |
2017 |
|
Skin carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Recent findings convincingly support the concept of a new function of the VDR as a tumor suppressor in skin, with key components of the vitamin D endocrine system, including VDR, CYP24A1, CYP27A1, and CYP27B1 being strongly expressed in non-melanoma skin cancer (NMSC).
|
28526240 |
2017 |