DESCRIBE <http://purl.uniprot.org/citations/16026620>

Subject	Predicate	Object
http://purl.uniprot.org/citations/16026620	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16026620	http://www.w3.org/2000/01/rdf-schema#comment	" Background Sitosterolemia is a recessively inherited disorder in humans that is associated with premature atherosclerotic disease. Mutations in ABCG5 or ABCG8, comprising the sitosterolemia locus, STSL, are now known to cause this disease. Three in-bred strains of rats, WKY, SHR and SHRSP, are known to be sitosterolemic, hypertensive and they carry a missense 'mutation' in a conserved residue of Abcg5, Gly583Cys. Since these rat strains are also know to carry mutations at other genetic loci and the extent of phytosterolemia is only moderate, it is important to verify that the mutations in Abcg5 are causative for phytosterolemia and whether they contribute to hypertension. Methods To investigate whether the missense change in Abcg5 is responsible for the sitosterolemia we performed a segregation analysis in 103 F2 rats from a SHR x SD cross. Additionally, we measured tail-cuff blood pressure and measured intestinal lipid transport to identify possible mechanisms whereby this mutation causes sitosterolemia. Results Segregation analysis showed that the inheritance of the Gly583Cys mutation Abcg5 segregated with elevated plant sterols and this pattern was recessive, proving that this genetic change is responsible for the sitosterolemia in these rat strains. Tail-cuff monitoring of blood pressure in conscious animals showed no significant differences between wild-type, heterozygous and homozygous mutant F2 rats, suggesting that this alteration may not be a significant determinant of hypertension in these rats on a chow diet. Conclusion This study shows that the previously identified Gly583Cys change in Abcg5 in three hypertension-susceptible rats is responsible for the sitosterolemia, but may not be a major determinant of blood pressure in these rats."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.org/dc/terms/identifier	"doi:10.1186/1471-2156-6-40"xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Chen J."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Yu H."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Zheng S."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Batta A."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Patel S.B."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Salen G."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Tso P."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Fitzgibbon W.R."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/author	"Ullian M.E."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/date	"2005"xsd:gYear
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/name	"BMC Genet"xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/pages	"40"xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/title	"The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension."xsd:string
http://purl.uniprot.org/citations/16026620	http://purl.uniprot.org/core/volume	"6"xsd:string
http://purl.uniprot.org/citations/16026620	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/16026620
http://purl.uniprot.org/citations/16026620	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/16026620
http://purl.uniprot.org/uniprot/#_A0A8I6AHT3-mappedCitation-16026620	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/16026620
http://purl.uniprot.org/uniprot/#_Q923R8-mappedCitation-16026620	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/16026620
http://purl.uniprot.org/uniprot/#_Q99PE7-mappedCitation-16026620	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/16026620
http://purl.uniprot.org/uniprot/Q99PE7	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/16026620
http://purl.uniprot.org/uniprot/A0A8I6AHT3	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/16026620
http://purl.uniprot.org/uniprot/Q923R8	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/16026620