|
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 |
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 |
ABCC8 mutations cause PNDM, TNDM or permanent diabetes diagnosed outside the neonatal period.
|
17919176 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
|
17317760 |
2007 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
|
16885549 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to screen the mutations in the KCNJ11, ABCC8, and INS genes in a Chinese patient with clinical features of NDM.
|
30915639 |
2019 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our aim is to determine molecular defects in K<sub>ATP</sub> channels caused by ABCC8 mutations in Asian Indian children with NDM by in vitro functional studies.
|
30861254 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
|
29358691 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Each of the ABCC8 gene mutation carrier family members were diagnosed with diabetes as follows: the grandfather with type 2 diabetes at 35 years of age, the aunt with slowly-progressive insulin-dependent diabetes at 18 years of age, the mother with ketosis-onset insulin-dependent diabetes at 14 years of age, the sister with impaired glucose tolerance at 9 years of age, and the proband with transient neonatal diabetes at birth.
|
30068891 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study revealed significantly (p < 0.05) higher prevalence of the T allele of the ABCC8 gene in T2D patients (33.1%) compared to ND patients (28.0%).
|
29751826 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
Long used to target K<sub>ATP</sub> (Sur1-Kir6.2) channels for the treatment of diabetes mellitus type 2, glyburide was recently repurposed to target Sur1-transient receptor potential melastatin 4 (Trpm4) channels in acute central nervous system injury.
|
30147301 |
2018 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Each of the ABCC8 gene mutation carrier family members were diagnosed with diabetes as follows: the grandfather with type 2 diabetes at 35 years of age, the aunt with slowly-progressive insulin-dependent diabetes at 18 years of age, the mother with ketosis-onset insulin-dependent diabetes at 14 years of age, the sister with impaired glucose tolerance at 9 years of age, and the proband with transient neonatal diabetes at birth.
|
30068891 |
2018 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This can be seen with dramatic impact on clinical care, in patients with genetic forms of diabetes such as Maturity Onset Diabetes of the Young caused by HNF1A mutations, and Neonatal diabetes due to activating mutations in ABCC8 or KCNJ11.
|
29486427 |
2018 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sulfonylurea therapy can improve glycemic control and ameliorate neurodevelopmental outcomes in patients suffering from neonatal diabetes mellitus (NDM) with KCNJ11 or ABCC8 mutations.
|
28791793 |
2018 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
|
30352420 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Altered expression of Notch2 and ABCC8 genes may play a role in the pathogenesis of T2DM.
|
28794851 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
|
28587604 |
2017 |