Differential mechanisms of Cantú syndrome–associated gain of function mutations in theABCC9(SUR2) subunit of the KATPchannel

Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

(2014) Paige E. Cooper et al.   HUMAN MUTATION

K ATP Channels and Cardiovascular Disease

(2013) Colin G. Nichols et al.   CIRCULATION RESEARCH

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

(2013) Catherine A. Brownstein et al.   European Journal of Medical Genetics

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between KATP Gain of Channel Activity and Loss of Channel Expression

(2013) Yu-Wen Lin et al.   PLoS One

Clinical and functional characterization of the Pro1198LeuABCC8gene mutation associated with permanent neonatal diabetes mellitus

(2013) Tomoyuki Takagi et al.   Journal of Diabetes Investigation

Cantú Syndrome Is Caused by Mutations in ABCC9

(2012) Bregje W.M. van Bon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant missense mutations in ABCC9 cause Cantú syndrome

(2012) Magdalena Harakalova et al.   NATURE GENETICS

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels

(2010) Qing Zhou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Molecular biology of KATPchannels and implications for health and disease

(2009) Akrouh Alejandro et al.   IUBMB LIFE

A Rare Mutation in ABCC8/SUR1 Leading to Altered ATP-Sensitive K+ Channel Activity and  -Cell Glucose Sensing Is Associated With Type 2 Diabetes in Adults

(2008) A. I. Tarasov et al.   DIABETES

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes

(2008) Heidi de Wet et al.   EMBO REPORTS