Related references
Note: Only part of the references are listed.Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations
Meena Rafiq et al.
DIABETES CARE (2008)
Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy
Khalid Hussain
HORMONE RESEARCH (2008)
Mosaic paternal uniparental Isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy
Julian P. H. Shield et al.
DIABETES (2008)
An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism
Khalid Hussain et al.
DIABETES (2008)
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes
Heidi de Wet et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes
A. I. Tarasov et al.
DIABETES OBESITY & METABOLISM (2007)
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period
A. M. Patch et al.
DIABETES OBESITY & METABOLISM (2007)
Molecular basis of neonatal diabetes in Japanese patients
Shigeru Suzuki et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
A novel mutation causing DEND syndrome -: A treatable channelopathy of pancreas and brain
K. Shimomura et al.
NEUROLOGY (2007)
Insulin gene mutations as a cause of permanent neonatal diabetes
Julie Stoy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Congenital hyperinsulinism-associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels -: Identification and rescue
Fei-Fei Yan et al.
DIABETES (2007)
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic β cells
Timo Otonkoski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome
Peter Proks et al.
HUMAN MOLECULAR GENETICS (2007)
Identification of two Novel Frameshift Mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy
Laura Biagiotti et al.
EXPERIMENTAL AND MOLECULAR PATHOLOGY (2007)
Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encodiing Kir6.2
Min Sun Kim et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2007)
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
Sian Ellard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11
Yee-Ming Chan et al.
PEDIATRIC DIABETES (2007)
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities
I. Rica et al.
DIABETIC MEDICINE (2007)
Complex ABCC8 DNA variations in congenital hyperinsulinism:: lessons from functional studies
Morris Muzyamba et al.
CLINICAL ENDOCRINOLOGY (2007)
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
Sarah E. Flanagan et al.
DIABETES (2007)
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM)
Ricard Masia et al.
DIABETES (2007)
Sulfonylurea-responsive diabetes in childhood
Zohar Landau et al.
JOURNAL OF PEDIATRICS (2007)
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
Emma L. Edghill et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene
Ewan R. Pearson et al.
PLOS MEDICINE (2007)
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive fonn of developmental delay, epilepsy, and neonatal diabetes
Ricard Masia et al.
DIABETES (2007)
Diagnosis and localization of focal congenital hyperinsulinism by 18F-Fluorodopa PET scan
Olga T. Hardy et al.
JOURNAL OF PEDIATRICS (2007)
Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism
William H. Peranteau et al.
JOURNAL OF PEDIATRIC SURGERY (2007)
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers
Juraj Stanik et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
New ABCC8 mutations in relapsing neonatal diabetes and clinical features
Martine Vaxillaire et al.
DIABETES (2007)
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy
Ristan M. Greer et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2007)
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes
Christophe A. J. Girard et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2006)
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
Irina Giurgea et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Kir6.2 mutations causing neonatal diabetes prevent endocytosis of ATP-sensitive potassium channels
Jamel Mankouri et al.
EMBO JOURNAL (2006)
ATP sensitivity of the ATP-Sensitive K+ channel in intact and permeabilized pancreatic β-cells
Andrei I. Tarasov et al.
DIABETES (2006)
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
Andrey P. Babenko et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
Ewan R. Pearson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
Anna L. Gloyn et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by KATP channel mutations
Shannon H. Fourtner et al.
JOURNAL OF PEDIATRICS (2006)
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents
E. Feigerlova et al.
EUROPEAN JOURNAL OF PEDIATRICS (2006)
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
Peter Proks et al.
HUMAN MOLECULAR GENETICS (2006)
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
Valerie Senee et al.
NATURE GENETICS (2006)
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
SE Flanagan et al.
DIABETOLOGIA (2006)
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months
Emma L. Edghill et al.
DIABETES (2006)
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects
Kenju Shimomura et al.
DIABETES (2006)
Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels -: Implications in disease mechanism and sulfonylurea therapy
Chia-Wei Lin et al.
DIABETES (2006)
A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of β-cell ATP-sensitive potassium channels
YW Lin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Mutation Spectra of ABCC8 Gene in Spanish Patients with Hyperinsulinism of Infancy (HI)
Ana Fernandez-Marmiesse et al.
HUMAN MUTATION (2006)
Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene
G. Tonini et al.
DIABETOLOGIA (2006)
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism
M Suchi et al.
MODERN PATHOLOGY (2006)
Noninvasive diagnosis of focal hyperinsulinism of infancy with [F-18]-DOPA positron emission tomography
T Otonkoski et al.
DIABETES (2006)
Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy
Peter Proks et al.
DIABETES (2006)
Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: A case report
William H. Peranteau et al.
FETAL DIAGNOSIS AND THERAPY (2006)
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation
C Colombo et al.
DIABETOLOGIA (2005)
Functional effects of KCNJ11 mutations causing neonatal diabetes:: enhanced activation by MgATP
P Proks et al.
HUMAN MOLECULAR GENETICS (2005)
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function
E Marthinet et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes -: Implications for pharmacogenomic therapy
JC Koster et al.
DIABETES (2005)
ATP-sensitive potassium channelopathies: focus on insulin secretion
FM Ashcroft
JOURNAL OF CLINICAL INVESTIGATION (2005)
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions
P Tammaro et al.
EMBO JOURNAL (2005)
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus
T Yorifuji et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel
S Haider et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2005)
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
P Proks et al.
EMBO REPORTS (2005)
The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes:: evidence for heterogeneity of beta cell function among carriers of the R201H mutation
T Klupa et al.
DIABETOLOGIA (2005)
Genotypes of the pancreatic β-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy
K Ohkubo et al.
CLINICAL ENDOCRINOLOGY (2005)
Relapsing diabetes can result from moderately activating mutations in KCNJ11
AL Gloyn et al.
HUMAN MOLECULAR GENETICS (2005)
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation
E Codner et al.
DIABETES CARE (2005)
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes
MJ Henwood et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit
JF Antcliff et al.
EMBO JOURNAL (2005)
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
O Massa et al.
HUMAN MUTATION (2005)
Permanent neonatal diabetes in an Asian infant
JR Porter et al.
JOURNAL OF PEDIATRICS (2005)
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region
JC Florez et al.
DIABETES (2004)
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
AL Gloyn et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor
FF Yan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy
NS Adzick et al.
JOURNAL OF PEDIATRIC SURGERY (2004)
KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction
A Jeron et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2004)
Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy
M De Vroede et al.
PEDIATRICS (2004)
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the β-cell sulfonylurea receptor
SN Magge et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the β-cell potassium adenosine triphosphate channel
AL Gloyn et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features
P Proks et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Hyperinsulinism of infancy:: Novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity
S Tornovsky et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Mutations in PTF1A cause pancreatic and cerebellar agenesis
GS Sellick et al.
NATURE GENETICS (2004)
Identification of a functionally important negatively charged residue within the second catalytic site of the SUR1 nucleotide-bindind domains
JD Campbell et al.
DIABETES (2004)
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2
A Zung et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation
CA Stanley et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir 6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years
EL Edghill et al.
DIABETES (2004)
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
M Vaxillaire et al.
DIABETES (2004)
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 -: Patient characteristics and initial response to sulfonylurea therapy
JV Sagen et al.
DIABETES (2004)
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor
PS Thornton et al.
DIABETES (2003)
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations
AL Gloyn et al.
DIABETES (2003)
N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits
KW Chan et al.
EMBO JOURNAL (2003)
Histopathology of congenital hyperinsulinism: Retrospective study with genotype correlations
M Suchi et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2003)
Crystal structure of the potassium channel KirBac1.1 in the closed state
AL Kuo et al.
SCIENCE (2003)
Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population
F Reimann et al.
DIABETOLOGIA (2003)
The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes
EMD Nielsen et al.
DIABETES (2003)
Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
AL Gloyn et al.
DIABETES (2003)
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1
H Huopio et al.
LANCET (2003)
An E23K single nucleotide polymorphism in the islet ATP-sensitive potassium channel gene (Kir6.2) contributes as much to the risk of Type II diabetes in Caucasians as the PPAR gamma Pro12Ala variant
L Love-Gregory et al.
DIABETOLOGIA (2003)
Permanent neonatal diabetes caused by glucokinase deficiency - Inborn error of the glucose-insulin signaling pathway
PR Njolstad et al.
DIABETES (2003)
Structural basis of inward rectification:: Cytoplasmic pore of the G protein-gated inward rectifier GIRK1 at 1.8 Å resolution
M Nishida et al.
CELL (2002)
Nucleotide sensitivity of pancreatic ATP-sensitive potassium channels and type 2 diabetes
C Schwanstecher et al.
DIABETES (2002)
The common single nucleotide polymorphism E23K in KIR6.2 sensitizes pancreatic β-cell ATP-sensitive potassium channels toward activation through nucleoside diphosphates
C Schwanstecher et al.
DIABETES (2002)
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism
H Huopio et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Permanent diabetes mellitus in the first year of life
D Iafusco et al.
DIABETOLOGIA (2002)
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels
G Taschenberger et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism
B Dekel et al.
CLINICAL PEDIATRICS (2002)
K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic p-cell ATP-Sensitive K+ channels
C Schwanstecher et al.
DIABETES (2002)
p57KIP2 expression in normal islet cells and in hyperinsulinism of infancy
SA Kassem et al.
DIABETES (2001)
Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism
CJ Partridge et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Neonatal diabetes mellitus due to complete glucokinase deficiency.
PR Njolstad et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53)
AL Gloyn et al.
DIABETIC MEDICINE (2001)
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy
EA Cartier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Hyperinsulinism of infancy -: The regulated release of insulin by KATP channel-independent pathways
SG Straub et al.
DIABETES (2001)
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations
A Grimberg et al.
DIABETES (2001)
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
RS Wildin et al.
NATURE GENETICS (2001)
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy
M Matsuo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Characterization of genes encoding the pancreatic β-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients
T Someya et al.
ENDOCRINE JOURNAL (2000)
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
H Huopio et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
M Bitner-Glindzicz et al.
NATURE GENETICS (2000)
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
M Delépine et al.
NATURE GENETICS (2000)
Targeted overactivity of β cell KATP channels induces profound neonatal diabetes
JC Koster et al.
CELL (2000)
Practical management of hyperinsulinism in infancy
A Aynsley-Green et al.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION (2000)
An imprinted locus associated with transient neonatal diabetes mellitus
RJ Gardner et al.
HUMAN MOLECULAR GENETICS (2000)
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels
N Sharma et al.
KIDNEY INTERNATIONAL (2000)
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy - Nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1
Y Tanizawa et al.
DIABETES (2000)
Diverse roles of K-ATP channels learned from Kir6.2 genetically engineered mice
S Seino et al.
DIABETES (2000)