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Scholar Results 1 - 10 of about 175 citing Sagen: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6. 2. (0.16 sec) 

ATP-sensitive potassium channelopathies: focus on insulin secretion

- nih.gov
FM Ashcroft - Journal of Clinical Investigation, 2005 - Am Soc Clin Investig
ATP-sensitive potassium (K ATP ) channels, so named because they are inhibited by intracellular
ATP , play key physiological roles in many tissues. In pancreatic β cells, these channels regulate
glucose-dependent insulin secretion and serve as the target for sulfonylurea drugs used ...
Cited by 142 - Related articles - BL Direct - All 14 versions

Activating mutations in Kir6. 2 and neonatal diabetes


AT Hattersley, FM Ashcroft - Diabetes, 2005 - Am Diabetes Assoc
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 β-cells. Heterozygous
gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this ...
Cited by 138 - Related articles - BL Direct - All 10 versions

KATP channels as molecular sensors of cellular metabolism


CG Nichols - Nature, 2006 - nature.com
Even in the absence of ATP, the single-channel kinetics of K ATP are complex, but certain key
features are clearly discernible and can be modelled by assuming a single 'fast' gate and
ligand-operated 'slow' gates within each subunit 36 . Single-channel analyses ...
Cited by 137 - Related articles - BL Direct - All 8 versions

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 …

- shouxi.net
ER Pearson, I Flechtner, PR Njolstad, MT … - New England Journal …, 2006 - content.nejm.org
Background Heterozygous activating mutations in KCNJ11, encoding the Kir6.2 subunit of the
ATP-sensitive potassium (K ATP ) channel, cause 30 to 58 percent of cases of diabetes diagnosed
in patients under six months of age. Patients present with ketoacidosis or severe ...
Cited by 128 - Related articles - BL Direct - All 13 versions

Molecular basis of Kir6. 2 mutations associated with neonatal diabetes or neonatal …

- nih.gov
P Proks, JF Antcliff, J Lippiat, AL Gloyn, … - Proceedings of the …, 2004 - National Acad Sciences
Inwardly rectifying potassium channels (Kir channels) control cell membrane K + fluxes and electrical
signaling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11),
the pore-forming subunit of the ATP-sensitive (K ATP ) channel, cause permanent ...
Cited by 115 - Related articles - All 11 versions

Functional analysis of a structural model of the ATP-binding site of the KATP …


JF Antcliff, S Haider, P Proks, MSP Sansom, … - The EMBO …, 2005 - pubmedcentral.nih.gov
ATP-sensitive potassium (K ATP ) channels couple cell metabolism to electrical activity by regulating
K + flux across the plasma membrane. Channel closure is mediated by ATP, which binds to the
pore-forming subunit (Kir6.2). Here we use homology modelling and ligand docking to ...
Cited by 93 - Related articles - All 10 versions

Genetic epidemiology of diabetes

- nih.gov
MA Permutt, J Wasson, N Cox - Journal of Clinical Investigation, 2005 - Am Soc Clin Investig
Conventional genetic analysis focuses on the genes that account for specific phenotypes, while
traditional epidemiology is more concerned with the environmental causes and risk factors related
to traits. Genetic epidemiology is an alliance of the 2 fields that focuses on both genetics, ...
Cited by 91 - Related articles - All 9 versions

Relapsing diabetes can result from moderately activating mutations in KCNJ11

- oxfordjournals.org
AL Gloyn, F Reimann, C Girard, EL Edghill, P … - Human molecular …, 2005 - Oxford Univ Press
Neonatal diabetes can either remit and hence be transient or else may be permanent. These
two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest
cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes ...
Cited by 89 - Related articles - All 7 versions

Pharmacogenomics: challenges and opportunities

- annals.org [PDF] 
DM Roden, RB Altman, NL Benowitz, DA … - Annals of internal …, 2006 - Am Coll Physicians
The outcome of drug therapy is often unpredictable, ranging from beneficial effects to lack of
efficacy to serious adverse effects. Variations in single genes are 1 well-recognized cause of
such unpredictability, defining the field of pharmacogenetics (see Glos- sary). Such ...
Cited by 86 - Related articles - BL Direct - All 3 versions

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) …

- oxfordjournals.org
P Proks, AL Arnold, J Bruining, C Girard, SE … - Human molecular …, 2006 - Oxford Univ Press
Neonatal diabetes is a genetically heterogeneous disorder with nine different genetic aetiologies
reported to date. Heterozygous activating mutations in the KCNJ11 gene encoding Kir6.2, the
pore-forming subunit of the ATP-sensitive potassium (K ATP ) channel, are the most ...
Cited by 77 - Related articles - BL Direct - All 9 versions


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