|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function of ATP-sensitive K<sup>+</sup> (K<sub>ATP</sub> ) channels because of mutations in the genes encoding SUR1 (ABCC8) or Kir6.2 (KCNJ11) is a major cause of neonatal diabetes mellitus (NDM).
|
30861254 |
2019 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although KCNJ11 mutations are always reported in patients with permanent neonatal diabetes, this gene mutation can be detected after 6 months of age.
|
29361385 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Chromosomal microarray at 11 weeks of age showed XXY and a panel-based, molecular test for neonatal diabetes revealed a pathogenic heterozygous variant c.685G>A (p.Glu229Lys) in KCNJ11.
|
28766502 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The majority of neonatal diabetes patients with KCNJ11 mutations will respond to sulphonylurea treatment.
|
28943513 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Unlike Western populations where NDM is predominantly due to mutations in the KCNJ11, ABCC8 and INS genes, NDM due to homozygous GCK gene mutations were most prevalent in Oman, having been observed in seven out of 15 NDM patients in whom we established the genetic etiology.
|
29329106 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes
|
28943514 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy.
|
30094785 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed.
|
29880308 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
In our cohort of KCNJ11-related permanent NDM, hypoglycemia is infrequent and mild despite the high doses of sulfonylurea used and near-normal level of glycemic control.
|
29205704 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sensor-augmented continuous subcutaneous insulin infusion has been successfully employed in neonatal diabetes, and long-lasting effectiveness of sulfonylurea in KCNJ11 mutation carriers with neonatal diabetes well documented.
|
30086875 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
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 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study reports the first case of DEND syndrome in Korea caused by a KCNJ11 mutation and emphasizes the necessity to screen mutations in KATP channel genes in patients with neonatal diabetes.
|
28480665 |
2017 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes, whilst loss-of-function mutations in these genes result in congenital hyperinsulinism.
|
28663158 |
2017 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.
|
28083968 |
2017 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two cases of transient NDM in extremely preterm, 24 weeks' gestational age (GA) triplets, due to a missense mutation c.685G>A in the KCNJ11 gene are presented.
|
28350539 |
2017 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
|
27555491 |
2017 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively analysed clinical data on 127 patients with neonatal diabetes due to KCNJ11 mutations who attempted to transfer to sulfonylureas.
|
27033559 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
KCNJ11-related diabetes is the most common form of permanent neonatal diabetes and has been associated with a spectrum of neurodevelopmental problems.
|
27223594 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
No previous studies have systematically characterized the psychiatric morbidity in people with KCNJ11 neonatal diabetes.
|
27086753 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11.
|
27428845 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the first clinical case of neonatal diabetes caused by a homozygous KCNJ11 mutation.
|
27118464 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for patients identified through the Ukrainian Pediatric Diabetes Register identified KCNJ11 and ABCC8 mutations as the most common cause (52%) of neonatal diabetes.
|
26208381 |
2015 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), and INS (n=1) and heterozygous KCNJ11 (n=2) mutations were identified.
|
25755231 |
2015 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We performed a retrospective cohort study using data on 58 individuals with neonatal diabetes due to KCNJ11 mutations identified through the University of Chicago Monogenic Diabetes Registry ( http://monogenicdiabetes.uchicago.edu/registry ).
|
25877689 |
2015 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neonatal diabetes mellitus is a rare clinical condition, which develops most commonly secondary to mutations in KCNJ11 and ABCC8 genes encoding ATP-sensitive K+ channels.
|
24468609 |
2014 |