| 1 |
35428606 | A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene. | 2022 May-Jun |
1 |
| 2 |
35614401 | Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. | 2022 May 25 |
2 |
| 3 |
35633129 | Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure. | 2022 May 28 |
2 |
| 4 |
31875301 | A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene. | 2021 Apr |
1 |
| 5 |
33458645 | Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation. | 2021 |
1 |
| 6 |
33891937 | Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis. | 2021 |
2 |
| 7 |
33967188 | Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments. | 2021 Sep 1 |
2 |
| 8 |
33977023 | Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings. | 2021 May |
2 |
| 9 |
34930075 | Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy. | 2021 Dec 20 |
3 |
| 10 |
31990370 | Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling. | 2020 Jul |
3 |
| 11 |
32714376 | c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis. | 2020 |
1 |
| 12 |
32841642 | Hesperidin alleviates cholestasis via activation of the farnesoid X receptor in vitro and in vivo. | 2020 Oct 15 |
1 |
| 13 |
31741606 | Cerebrotendinous xanthomatosis - A case report. | 2019 Jul-Sep |
1 |
| 14 |
29434128 | Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. | 2018 Jun 1 |
1 |
| 15 |
29452159 | CYP27A1 acts on the pre-vitamin D3 photoproduct, lumisterol, producing biologically active hydroxy-metabolites. | 2018 Jul |
1 |
| 16 |
30148906 | [Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis]. | 2018 Jun |
1 |
| 17 |
27858369 | Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. | 2017 |
2 |
| 18 |
27939613 | Pharmacotoxicology of clinically-relevant concentrations of obeticholic acid in an organotypic human hepatocyte system. | 2017 Mar |
1 |
| 19 |
28937538 | Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. | 2017 Nov |
5 |
| 20 |
28980151 | Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). | 2017 Nov |
3 |
| 21 |
29242796 | Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. | 2017 Sep-Oct |
1 |
| 22 |
26156051 | Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. | 2016 Jan |
2 |
| 23 |
25983621 | Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. | 2015 Mar |
1 |
| 24 |
26374826 | Synthesis of an Endogenous Steroidal Na Pump Inhibitor Marinobufagenin, Implicated in Human Cardiovascular Diseases, Is Initiated by CYP27A1 via Bile Acid Pathway. | 2015 Oct |
3 |
| 25 |
26643207 | Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. | 2015 Dec |
1 |
| 26 |
24186955 | A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. | 2014 Jan |
2 |
| 27 |
24836315 | [Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis]. | 2014 May 25 |
2 |
| 28 |
25424010 | Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. | 2014 Nov 26 |
2 |
| 29 |
24174808 | Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient. | 2013 Aug |
1 |
| 30 |
24223822 | Mice with chimeric livers are an improved model for human lipoprotein metabolism. | 2013 |
1 |
| 31 |
22111624 | Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases. | 2012 May |
1 |
| 32 |
22281802 | Increase of 27-hydroxycholesterol in the airways of patients with COPD: possible role of 27-hydroxycholesterol in tissue fibrosis. | 2012 Aug |
1 |
| 33 |
21157207 | SPECT imaging for brain improvement quantification in a patient with cerebrotendinous xanthomatosis. | 2011 Jan |
2 |
| 34 |
21334403 | Insufficient bile acid signaling impairs liver repair in CYP27(-/-) mice. | 2011 Oct |
1 |
| 35 |
21615622 | Expression of SLCO1B3 is associated with intratumoral cholestasis and CTNNB1 mutations in hepatocellular carcinoma. | 2011 Sep |
1 |
| 36 |
22235657 | [Mechanisms of bile acid biosynthesis regulation--autoregulation by bile acids]. | 2011 |
1 |
| 37 |
19808031 | ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. | 2010 Jan |
1 |
| 38 |
20494109 | Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. | 2010 May 21 |
2 |
| 39 |
20925952 | A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis. | 2010 Oct 6 |
2 |
| 40 |
22791847 | Cerebrotendinous xanthomatosis associated with immune thrombocytopenia. | 2010 Nov 5 |
1 |
| 41 |
18817892 | Glucocorticoid receptor-mediated upregulation of human CYP27A1, a potential anti-atherogenic enzyme. | 2008 Nov-Dec |
2 |
| 42 |
19125350 | Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. | 2008 Dec |
2 |
| 43 |
17088262 | PXR induces CYP27A1 and regulates cholesterol metabolism in the intestine. | 2007 Feb |
2 |
| 44 |
16445943 | Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? | 2006 Apr 15 |
2 |
| 45 |
16500955 | Structural motif-based homology modeling of CYP27A1 and site-directed mutational analyses affecting vitamin D hydroxylation. | 2006 May 15 |
1 |
| 46 |
16930540 | Monocyte-derived cells express CYP27A1 and convert vitamin D3 into its active metabolite. | 2006 Oct 13 |
1 |
| 47 |
17050932 | Cerebrotendinous xanthomatosis: need for early diagnosis. | 2006 Sep-Oct |
1 |
| 48 |
15520450 | Role of CYP27A in cholesterol and bile acid metabolism. | 2005 Jan |
2 |
| 49 |
15581596 | Coordinate transcriptional regulation of bile acid homeostasis and drug metabolism. | 2005 Jan 15 |
2 |
| 50 |
15795599 | Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. | 2005 Apr |
2 |