| http://purl.uniprot.org/citations/12161058 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12161058 | http://www.w3.org/2000/01/rdf-schema#comment | "Genetic studies suggest a diabetes susceptibility locus on human chromosome 20, near the melanocortin receptor-3 (MC3-R) gene. We examined the MC3-R as a candidate gene for type 2 diabetes in 12 members of a large Maori kindred with multiple affected members. The coding region of the MC3-R gene was sequenced for both diabetic and non-diabetic individuals. Two separate single base pair substitutions were found in the MC3-R coding sequence and these resulted in amino acid changes, Lysine6Threonine and Isoleucine81Valine. Neither of these MC3-R variants tracked with the presence of diabetes. Furthermore, the variant and wild type MC3-R showed similar functional coupling to adenylyl cyclase. A polymorphic marker (D20S32e) close to the human MC3-R (hMC3-R) coding sequence was investigated in a 60-member pedigree for association with diabetes and other metabolic parameters. There was an association between D20S32e genotype and fasting insulin (P=0.0085) and the insulin resistance index, HOMA-R (P=0.0042). An association was also found between genotype and HDL levels during oral glucose tolerance testing (P=0.0037). These associations were independent of BMI, age, gender and diabetes. Our data do not support a role for variations in the coding region of the hMC3-R in the development of type 2 diabetes in this Maori kindred, but suggest that a locus on chromosome 20 q, close to D20S32e, may contribute to both insulin secretion and action in the Maori kindred."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0168-8227(02)00126-2"xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "White M."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Wong J."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Mountjoy K.G."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Love D.R."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Elston R.C."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Daniels A."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Kyle C."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Stewart A.W."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Holdaway I.M."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/author | "Schnell A.H."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/name | "Diabetes Res Clin Pract"xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/pages | "61-71"xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/title | "Melanocortin-3 receptor gene variants in a Maori kindred with obesity and early onset type 2 diabetes."xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://purl.uniprot.org/core/volume | "58"xsd:string |
| http://purl.uniprot.org/citations/12161058 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12161058 |
| http://purl.uniprot.org/citations/12161058 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12161058 |
| http://purl.uniprot.org/uniprot/#_P41968-mappedCitation-12161058 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12161058 |
| http://purl.uniprot.org/uniprot/P41968 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/12161058 |