|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM).
|
17668386 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
|
17855752 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
|
18250167 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular analysis of chromosome 6 anomalies and the KCNJ11 and ABCC8 genes encoding Kir6.2 and SUR1 provides a tool for distinguishing transient from permanent neonatal diabetes mellitus in the neonatal period.
|
18279778 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months.
|
18662362 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.
|
19169493 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a novel KCNJ11 mutation causing PNDM.
|
19351728 |
2009 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
|
20022885 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In summary, the switch from insulin therapy to SU treatment in PNDM related to KCNJ11 mutations was found to be an efficient and safe therapeutic method over a period of 34-month median follow-up.
|
20184447 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy.
|
20466780 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a 3-year-old girl with permanent neonatal diabetes (PNDM) caused by a novel heterozygous mutation (K185Q) at residue K185 of KCNJ11.
|
20546268 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although PNDM is a rare phenomenon (one case in about 200,000 live births), this discovery has had a large impact on clinical practice as most carriers of KCNJ11 and ABCC8 gene mutations have been switched from insulin to oral sulphonylureas with an improvement in glycemic control.
|
21054355 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
|
21352428 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
|
21422196 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011.
|
21812132 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50%-60% of the patients.
|
21823539 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review on monogenic diabetes.
|
21844708 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a 18-month follow-up of switching from insulin to SU in a mother and her daughter with PNDM due to KCNJ11 mutation.
|
21871684 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.
|
22060631 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we sequenced the KCNJ11 gene in a Chinese boy diagnosed with permanent neonatal diabetes mellitus (PNDM) and also in his parents.
|
22145471 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
|
22311976 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
|
22498247 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations of KCNJ11 can cause permanent neonatal diabetes mellitus, but only rarely after 6 months of age.
|
22694282 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a 12-year-old Portuguese girl with PNDM due to the previously reported R201C mutation in the KCNJ11 gene.
|
22768671 |
2012 |