|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in SUR1 have been shown to cause neonatal diabetes.
|
18281290 |
2008 |
|
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 |
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
|
15962003 |
2005 |
|
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 |
The functional consequence of this ABCC8 mutation mirrors that of KCNJ11 mutations causing neonatal diabetes and provides new insights into the interaction of Kir6.2 and SUR1.
|
16613899 |
2006 |
|
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 |
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 |
We screened the 39 exons of ABCC8 in 34 patients with permanent or transient neonatal diabetes of unknown origin.
|
16885549 |
2006 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The objective of the study was to determine the mechanisms by which two SUR1 mutations, E208K and V324M, associated with transient neonatal diabetes affect KATP channel function.
|
20810569 |
2010 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes.
|
18025464 |
2007 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in genes KCNJ11 and ABCC8, which form the ATP-sensitive K+channel (K(ATP) channel), have been shown to cause transient or permanent neonatal diabetes.
|
19342262 |
2009 |
|
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 |
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 |
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 |
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 |
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 |
The importance of these interactions is exemplified by the fact that impaired regulation of Kir6.2 by SUR1 results in human disease, with loss-of-function SUR1 mutations causing congenital hyperinsulinism and gain-of-function SUR1 mutations leading to neonatal diabetes.
|
18990670 |
2009 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
|
19351728 |
2009 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes.
|
20022885 |
2010 |
|
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 |
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 |
The majority of neonatal diabetes cases are caused by mutations in the K(ATP) channel genes ABCC8 and KCNJ11, and sulfonylurea therapy is then usually superior to insulin.
|
21463240 |
2011 |
|
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 |
Here we report that two hyperinsulinism-associated SUR1 missense mutations, R74W and E128K, surprisingly reduce channel inhibition by intracellular ATP, a gating defect expected to yield the opposite disease phenotype neonatal diabetes.
|
19151370 |
2009 |