Neonatal diabetes mellitus
|
0.700 |
Biomarker
|
disease |
BEFREE |
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
|
21540348 |
2011 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.
|
21617188 |
2011 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the ABCC8 gene in 85 patients with a BMI <30 kg/m², no family history of neonatal diabetes and who were deemed sensitive to sulfonylureas by the referring clinician or were sulfonylurea-treated.
|
21989597 |
2012 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in different domains of the ABCC8 gene-coded sulfonylurea receptor 1 (SUR1) cause neonatal diabetes.
|
22020219 |
2011 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Given the effectiveness of SU treatment in ABCC8-NDM patients, we further characterized late-onset ABCC8-associated diabetes.
|
22210575 |
2012 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report a successful experience in an ABCC8-mutated infant with permanent NDM.
|
22306677 |
2012 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
K(ATP) channel (Kir6.2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM.
|
22308870 |
2011 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel His863Tyr ABCC8 mutation was identified in a 2-month-old girl diagnosed with ND.
|
22326206 |
2012 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.
|
22562119 |
2012 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beyond neonatal diabetes mellitus (NDM), KCNJ11 is also a MODY gene ('MODY13'), confirming the wide spectrum of diabetes related phenotypes due to mutations in NDM genes (i.e.KCNJ11, ABCC8 and INS).
|
22701567 |
2012 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the pancreatic ATP sensitive K(+) channel proteins [sulfonyluea receptor 1 (SUR1) and inward rectifier K(+) channel Kir6.2 (Kir6.2), encoded by ATP-binding cassette transporter subfamily C member 8 (ABCC8) and potassium channel J11 (KCNJ11), respectively], are the most common cause of neonatal diabetes.
|
22831748 |
2013 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.
|
23783767 |
2014 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis.
|
24468609 |
2014 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp/p.Ile93Thr) causing neonatal diabetes mellitus.He died of ketoacidosis.
|
24941889 |
2014 |
Neonatal diabetes mellitus
|
0.700 |
Biomarker
|
disease |
BEFREE |
In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1).
|
25755231 |
2015 |
Neonatal diabetes mellitus
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.
|
27849623 |
2016 |
Neonatal diabetes mellitus
|
0.700 |
Biomarker
|
disease |
BEFREE |
Gain-of-function (GOF) mutations in the pore-forming (Kir6.2) and regulatory (SUR1) subunits of K<sub>ATP</sub> channels have been identified as the most common cause of human neonatal diabetes mellitus.
|
27956473 |
2017 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.
|
28511139 |
2017 |
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of an ABCC8 nonsense mutation causing a gain-of-channel function and these findings extend the spectrum of K-ATP channel mutations observed in patients with neonatal diabetes.
|
28663158 |
2017 |
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 |
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 |
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 |
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 |
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 |