Publication
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
| dc.contributor.author | Ellard, S. | |
| dc.contributor.author | Bellanné-Chantelot, C. | |
| dc.contributor.author | Hattersley, A.T. | |
| dc.contributor.author | European Molecular Genetics Quality Network (EMQN) MODY group | |
| dc.date.accessioned | 2011-11-09T15:43:10Z | |
| dc.date.available | 2011-11-09T15:43:10Z | |
| dc.date.issued | 2008-02-23 | |
| dc.description | Member of the EMQN MODY group: Gisela Gaspar | por |
| dc.description.abstract | AIMS/HYPOTHESIS: Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results. | por |
| dc.identifier.citation | Diabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 23 | por |
| dc.identifier.issn | 0012-186X | |
| dc.identifier.issn | doi:10.1007/s00125-008-0942-y | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/314 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Springer | por |
| dc.relation.publisherversion | http://www.springerlink.com/content/l720766180l15465/ | por |
| dc.subject | Best practice | por |
| dc.subject | GCK | por |
| dc.subject | HNF1A | por |
| dc.subject | HNF4A | por |
| dc.subject | Maturity-onset diabetes of the young | por |
| dc.subject | MODY | por |
| dc.subject | Monogenic diabetes | por |
| dc.subject | Doenças Cardio e Cérebro-vasculares | por |
| dc.title | Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 553 | por |
| oaire.citation.startPage | 546 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |