Journal article
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
- Abstract:
-
Closure of ATP-sensitive K(+) channels (K(ATP) channels) in response to metabolically generated ATP or binding of sulfonylurea drugs stimulates insulin release from pancreatic beta-cells. Heterozygous gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this channel are found in approximately 47% of patients diagnosed with permanent diabetes at <6 months of age. There is a striking genotype-phenotype relationship with specific Kir6.2 mutations being associated with ...
Expand abstract
- Publication status:
- Published
Actions
Access Document
- Publisher copy:
- 10.2337/diabetes.54.9.2503
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Bibliographic Details
- Journal:
- Diabetes
- Volume:
- 54
- Issue:
- 9
- Pages:
- 2503-2513
- Publication date:
- 2005-09-01
- DOI:
- EISSN:
-
1939-327X
- ISSN:
-
0012-1797
- Source identifiers:
-
114116
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:114116
- UUID:
-
uuid:c5c32e37-73b7-44e4-a3b2-b5084decb0cb
- Local pid:
- pubs:114116
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2005
If you are the owner of this record, you can report an update to it here: Report update to this record