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 |
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 |
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, 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, PERMANENT NEONATAL
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review on monogenic diabetes.
|
21844708 |
2011 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.
|
17213273 |
2007 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic beta-cell K(ATP) channel have recently been shown to be the most common cause of permanent neonatal diabetes mellitus (PNDM).
|
17213273 |
2007 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported.
|
17668386 |
2007 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported.
|
17668386 |
2007 |
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 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
|
16613899 |
2006 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |