Related references
Note: Only part of the references are listed.Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)
Trine W. Boesgaard et al.
BMC MEDICAL GENETICS (2010)
A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency
Marc Nicolino et al.
DIABETES (2010)
Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities
Oscar Rubio-Cabezas et al.
DIABETES (2010)
Efficacy and Safety of Sulfonylurea Use in Permanent Neonatal Diabetes Due to KCNJ11 Gene Mutations: 34-Month Median Follow-Up
Tomasz Klupa et al.
DIABETES TECHNOLOGY & THERAPEUTICS (2010)
Clinical Case Seminar The First Case Report of Sulfonylurea Use in a Woman with Permanent Neonatal Diabetes Mellitus due to KCNJ11 Mutation during a High-Risk Pregnancy
Tomasz Klupa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Rfx6 directs islet formation and insulin production in mice and humans
Stuart B. Smith et al.
NATURE (2010)
Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM
Ali Mohamadi et al.
PEDIATRIC DIABETES (2010)
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Intza Garin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Muscle Dysfunction Caused by a KATP Channel Mutation in Neonatal Diabetes Is Neuronal in Origin
Rebecca H. Clark et al.
SCIENCE (2010)
Mutations in the ABCC8 (SUR1 subunit of the KATP channel) gene are associated with a variable clinical phenotype
Tomasz Klupa et al.
CLINICAL ENDOCRINOLOGY (2009)
Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes
Oscar Rubio-Cabezas et al.
DIABETES CARE (2009)
Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide A previously unreported side effect
Janani Kumaraguru et al.
DIABETES CARE (2009)
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births
A. S. Slingerland et al.
DIABETOLOGIA (2009)
Update of Mutations in the Genes Encoding the Pancreatic Beta-Cell KATP Channel Subunits Kir6.2 (KCNJ11) and Sulfonylurea Receptor 1 (ABCC8) in Diabetes Mellitus and Hyperinsulinism
Sarah E. Flanagan et al.
HUMAN MUTATION (2009)
Update on Mutations in Glucokinase (GCK), Which Cause Maturity-Onset Diabetes of the Young, Permanent Neonatal Diabetes, and Hyperinsulinemic Hypoglycemia
Kara K. Osbak et al.
HUMAN MUTATION (2009)
Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families
Oscar Rubio-Cabezas et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression
Hong Soon Kang et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Jeffrey C. Barrett et al.
NATURE GENETICS (2009)
Genetics of Type 1A Diabetes
Patrick Concannon et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
The diagnosis and management of monogenic diabetes in children and adolescents
Andrew Hattersley et al.
PEDIATRIC DIABETES (2009)
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
Anders Molven et al.
DIABETES (2008)
Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation
A. S. Slingerland et al.
DIABETIC MEDICINE (2008)
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
S. Ellard et al.
DIABETOLOGIA (2008)
Insulin mutation screening in 1,044 patients with diabetes:: Mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
Emma L. Edghill et al.
DIABETES (2008)
Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations
Meena Rafiq et al.
DIABETES CARE (2008)
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)
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11
Woj Ciech Mlynarski et al.
NATURE CLINICAL PRACTICE NEUROLOGY (2007)
The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes
Janet M. Wenzlau et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome
Peter Proks et al.
HUMAN MOLECULAR GENETICS (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)
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)
Neonatal diabetes mellitus:: a disease linked to multiple mechanisms
Michel Polak et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
Transfer to sulphonylurea therapy in adult subiects with permanent neonatal diabetes due to KCNJ1-activating mutations - Evidence for improvement in insulin sensitivity
Maciej T. Malecki et al.
DIABETES CARE (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)
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene
A. S. Slingerland et al.
DIABETOLOGIA (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)
Type 1 diabetes: pathogenesis and prevention
Kathleen M. Gillespie
CANADIAN MEDICAL ASSOCIATION JOURNAL (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)
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months
Emma L. Edghill et al.
DIABETES (2006)
Hormonal regulation of fetal growth
C Gicquel et al.
HORMONE RESEARCH (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)
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)
Natural history of type 1 diabetes
P Achenbach et al.
DIABETES (2005)
Molecular genetics goes to the diabetes clinic
AT Hattersley
CLINICAL MEDICINE (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)
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)
Relapsing diabetes can result from moderately activating mutations in KCNJ11
AL Gloyn et al.
HUMAN MOLECULAR GENETICS (2005)
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
O Massa et al.
HUMAN MUTATION (2005)
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)
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)
Mutations in PTF1A cause pancreatic and cerebellar agenesis
GS Sellick et al.
NATURE GENETICS (2004)
Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management
JR Porter et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2004)
Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome
J Mitchell et al.
DIABETOLOGIA (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)
Brief communication: Early appearance of islet autoantibodies predicts childhood type 1 diabetes in offspring of diabetic parents
M Hummel et al.
ANNALS OF INTERNAL MEDICINE (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)
Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse
T Izumi et al.
DIABETES (2003)
Neonatal diabetes mellitus:: Chromosomal analysis in transient and permanent cases
C Metz et al.
JOURNAL OF PEDIATRICS (2002)
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
RS Wildin et al.
JOURNAL OF MEDICAL GENETICS (2002)
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia
HW Yoo et al.
EUROPEAN JOURNAL OF PEDIATRICS (2002)
Permanent diabetes mellitus in the first year of life
D Iafusco et al.
DIABETOLOGIA (2002)
Neonatal diabetes mellitus due to complete glucokinase deficiency.
PR Njolstad et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Poles of ATP-sensitive K+ channels in cell survival and differentiation in the endocrine pancreas
T Miki et al.
DIABETES (2001)
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
M Delépine et al.
NATURE GENETICS (2000)
Neonatal diabetes: New insights into aetiology and implications
JPH Shield
HORMONE RESEARCH (2000)