Cerebrotendinous Xanthomatosis Ontology
Names
More detailed information about this field from each metasource.
Cerebrotendinous Xanthomatosis Ontology
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
CTX
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
Names
More detailed information about this field from each metasource.
Cerebrotendinous Xanthomatosis Ontology
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
CTX
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
Names
More detailed information about this field from each metasource.
Cerebrotendinous Xanthomatosis Ontology
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
CTX
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
metasource: Biontology / Bioportal
version: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
The ontology represents CTX phenotypes, genetic variants, and bidirectional relationships between them though a patient model. The CTX ontology was build reusing the Human Phenotype Ontology (HPO) and the Snomed ct ontologies. A set of temporal clinical manifestations are semantically annotated with a domain phenotype ontology and registered with a time-stamped value.
Description
More detailed information about this field from each metasource.
The ontology represents CTX phenotypes, genetic variants, and bidirectional relationships between them though a patient model. The CTX ontology was build reusing the Human Phenotype Ontology (HPO) and the Snomed ct ontologies. A set of temporal clinical manifestations are semantically annotated with a domain phenotype ontology and registered with a time-stamped value.
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
The ontology represents CTX phenotypes, genetic variants, and bidirectional relationships between them though a patient model. The CTX ontology was build reusing the Human Phenotype Ontology (HPO) and the Snomed ct ontologies. A set of temporal clinical manifestations are semantically annotated with a domain phenotype ontology and registered with a time-stamped value.
metasource: Biontology / Bioportalversion: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
Webpage:
http://bioportal.bioontology.org/ontologies/CTXWebpage
More detailed information about this field from each metasource.
http://bioportal.bioontology.org/ontologies/CTX
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
http://www.usc.es/keam/~mariataboada/
metasource: Biontology / Bioportalversion: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
Publications:
Publications
More detailed information about this field from each metasource.
Cerebrotendinous xanthomatosis
PMID: 23759795
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
http://www.usc.es/keam/publications.html
metasource: Biontology / Bioportal
version: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
Publications
More detailed information about this field from each metasource.
Cerebrotendinous xanthomatosis
PMID: 23759795
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
http://www.usc.es/keam/publications.html
metasource: Biontology / Bioportalversion: vtemp2 extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/CTX
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Cerebrotendinous xanthomatosis
PubMed citations: 36.
36 articles citing: Cerebrotendinous xanthomatosis
Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis. PMID:34485606
Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population. PMID:33313117
The acidic pathway of bile acid synthesis: Not just an alternative pathway☆. PMID:32015930
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies. PMID:31863326
Oxysterols as lipid mediators: Their biosynthetic genes, enzymes and metabolites. PMID:31698146
[Sitosterolemia (phytosterolemia)]. PMID:31254003
Therapeutic targeting of nuclear receptors, liver X and retinoid X receptors, for Alzheimer's disease. PMID:30924124
Developing an Enzyme-Assisted Derivatization Method for Analysis of C27 Bile Alcohols and Acids by Electrospray Ionization-Mass Spectrometry. PMID:30736477
Human cytochrome P450 enzymes 5-51 as targets of drugs and natural and environmental compounds: mechanisms, induction, and inhibition - toxic effects and benefits. PMID:30717606
Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma. PMID:30471425
Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma. PMID:29960034
Sterol 27-Hydroxylase Polymorphism Significantly Associates With Shorter Telomere, Higher Cardiovascular and Type-2 Diabetes Risk in Obese Subjects. PMID:29951035
Drugs and Scaffold That Inhibit Cytochrome P450 27A1 In Vitro and In Vivo. PMID:29192124
Sterol 27-hydroxylase gene dosage and the antiatherosclerotic effect of Rifampicin in mice. PMID:29191818
Heterozygous Null LDLR Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse. PMID:28993407
Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls. PMID:28839426
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. PMID:28623566
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. PMID:28229379
Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum. PMID:28190002
Bile Acids in Neurodegenerative Disorders. PMID:27920719
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. PMID:27888347
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. PMID:27225395
Current concepts in the treatment of hereditary ataxias. PMID:27050855
Bile acids and sphingosine-1-phosphate receptor 2 in hepatic lipid metabolism. PMID:26579441
Farnesoid X receptor, the bile acid sensing nuclear receptor, in liver regeneration. PMID:26579433
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. PMID:26153518
Marketed Drugs Can Inhibit Cytochrome P450 27A1, a Potential New Target for Breast Cancer Adjuvant Therapy. PMID:26082378
Mitochondrial function and regulation of macrophage sterol metabolism and inflammatory responses. PMID:26015858
Genetics of familial hypercholesterolemia. PMID:25712136
The Associations of Novel Vitamin D3 Metabolic Gene CYP27A1 Polymorphism, Adiponectin/Leptin Ratio, and Metabolic Syndrome in Middle-Aged Taiwanese Males. PMID:25628655
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. PMID:25424010
Cholestenoic acids regulate motor neuron survival via liver X receptors. PMID:25271621
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. PMID:25053660
Bile acids are nutrient signaling hormones. PMID:24819989
Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. PMID:24519355
Inherited neuropathies: an update. PMID:24061768 - http://www.usc.es/keam/publications.html
Tags:
Tags
More detailed information about this field from each metasource.
brain
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
disease
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
lipid
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
phenotype
metasource: Fairsharing.org
version: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
Tags
More detailed information about this field from each metasource.
brain
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
disease
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
lipid
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
phenotype
metasource: Fairsharing.orgversion: FAIRsharing.org: CTX; Cerebrotendinous Xanthomatosis Ontology; DOI: https://doi.org/10.25504/FAIRsharing.619eqr; Last edited: Aug. 13, 2019, 4:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.
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