A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse.
AIMS/HYPOTHESIS: We identified a mouse with a point mutation (Y12STOP) in the Kcnj11 subunit of the K(ATP) channel. This point mutation is identical to that found in a patient with congenital hyperinsulinism of infancy (HI). We aimed to characterise the phenotype arising from this loss-of-function m...
Main Authors: | Hugill, A, Shimomura, K, Ashcroft, F, Cox, R |
---|---|
Format: | Journal article |
Language: | English |
Published: |
2010
|
Similar Items
-
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
by: Girard, C, et al.
Published: (2006) -
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
by: Ilse Wieland, et al.
Published: (2022-10-01) -
A novel mutation KCNJ11 R136C caused KCNJ11-MODY
by: Yaning Chen, et al.
Published: (2021-08-01) -
The extent of K-ATP channel block by MgATP correlates with the clinical phenotype caused by gain-of-function KCNJ11 mutations
by: Proks, R, et al.
Published: (2005) -
Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
by: Proks, P, et al.
Published: (2005)