|
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 |
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 |
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 |
UNIPROT |
We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems.
|
16731833 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified 35 carriers of GCK mutations causing MODY2, two carriers of TCF1 mutations causing MODY3, one carrier of a HNF4A mutation causing MODY1 and one carrier of a KCNJ11 mutation causing permanent neonatal diabetes mellitus.
|
16602010 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene.
|
23382304 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome.
|
24150202 |
2014 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome.
|
24150202 |
2014 |
|
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay.
|
15580558 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay.
|
15580558 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to compare sulfonylurea therapy with insulin treatment in two sulfonylurea-sensitive individuals with a KCNJ11 mutation who had poorly controlled permanent neonatal diabetes mellitus.
|
29278452 |
2018 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.
|
23434183 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
|
11395395 |
2001 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thirteen (43%) individuals with KCNJ11 -related NDM had treatment for or a diagnosis of ADHD compared to two (8%) of the sibling controls (P < 0.05).
|
27555491 |
2017 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The most common genetic cause of permanent neonatal diabetes mellitus is activating mutations in KCNJ11, which can usually be treated using oral sulfonylureas (SUs) instead of insulin injections, although some mutations are SU unresponsive.
|
27802092 |
2017 |
|
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 |
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 |
Sulfonylureas (SUs) are effective at controlling glycemia in permanent neonatal diabetes mellitus (PNDM) caused by KCNJ11 (Kir6.2) mutations.
|
25231897 |
2014 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Successful transition from insulin to sulphonyl urea (SU) agents in patients with PNDM due to KCNJ11 mutations and in patients with intermediate DEND syndrome due to KCNJ11 mutation have been reported in the literature.
|
27849623 |
2016 |
|
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 |
Review on monogenic diabetes.
|
21844708 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive EIF2AK3 gene mutations were the commonest cause of PNDM in the Arab cohort (22.7%) followed by INS (12.5%), and KCNJ11 and GCK (5.7% each), whereas K(ATP) channel mutations were the commonest cause (29.9%) in the British cohort.
|
22859427 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, activating mutations in the KCNJ11 gene which encodes the Kir6.2 subunit of the KATP channels in the pancreatic beta-cells were found to be an important cause of PNDM.
|
16019717 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
|
15292329 |
2004 |