DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
|
16885549 |
2006 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
Biomarker
|
disease |
MGD |
Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion.
|
10734066 |
2000 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Many patients who have PNDM have been successfully treated with sulphonylureas, a common class of antidiabetic drugs that bind to SUR1 and indirectly inhibit Kir6.2, thereby promoting insulin secretion.
|
29844136 |
2018 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the successful transition from insulin to SU in two Iraqi siblings with PNDM due to ABCC8 mutation, one with iDEND.
|
27849623 |
2016 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of PNDM.
|
23050777 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We identified the Pro1198Leu ABCC8 mutation in a PNDM patient, and clarified the functional and clinical characterization.
|
24843665 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.
|
22306677 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K(ATP) channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM).
|
22859427 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the long-term follow-up results of two siblings with PNDM who were treated with insulin until ABCC8 gene mutation was identified, and were successfully transferred to oral SU therapy.
|
22672870 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
|
22498247 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the ABCC8 gene can lead to permanent neonatal diabetes mellitus (PNDM).
|
22768668 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review on monogenic diabetes.
|
21844708 |
2011 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
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
|
0.800 |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Activating mutations in genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the pancreatic ATP-sensitive K(+) channel are a common cause of permanent neonatal diabetes (PNDM).
|
19351728 |
2009 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some other forms of monogenic diabetes associated with impaired function of the beta-cell, such as MODY3 and PNDM linked to mutations in Kir6.2 and SUR1 genes, can be successfully managed by sulphonylurea agents.
|
17488343 |
2008 |