|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in the ABCC8 gene cause diabetes and inactivating mutations usually cause hyperinsulinemic hypoglycemia in infancy.
|
31479591 |
2020 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This report describes six novel missense variants in ABCC8 and KCNJ11 that were identified in 11 probands with congenital HI.
|
31464105 |
2019 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Conclusion: Mutation in ABCC8 is the most common cause of CHI and reflects the early age of presentation.
|
31287126 |
2019 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.
|
30730840 |
2019 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Case 1: A 1-month-old boy diagnosed with diazoxide-unresponsive CHI due to a paternal heterozygous ABCC8 gene mutation showed partial response to octreotide.
|
30114684 |
2019 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that ATP binding to SUR1 biases K<sub>ATP</sub> channels toward open states, consistent with SUR1 variants with lower <i>K<sub>D</sub></i> values causing neonatal diabetes, whereas increased <i>K<sub>D</sub></i> values cause congenital hyperinsulinism.
|
30587573 |
2019 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
<b>Methods:</b> Clinical datasets were obtained from 25 patients with CHI-F due to <i>ABCC8/KCNJ11</i> mutations.
|
30386300 |
2018 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two newborns with CHI due to homozygous ABCC8 gene mutations were started on sirolimus aged 21 and 17 days, due to lack of response to medical treatment.
|
29217498 |
2018 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A 16-year-old female with CHI due to a dominant ABCC8 gene mutation was switched from diazoxide therapy to sirolimus, due to the hypertrichosis side effect of diazoxide.
|
28985184 |
2017 |
|
Congenital Hyperinsulinism
|
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 |
|
Congenital Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hence, pancreatic differentiation of ABCC8-deficient cells recapitulated the CHI disease phenotype in vitro, which represents an attractive model to further elucidate the function of SUR1 and to develop and screen for novel therapeutic drugs.
|
28600547 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Eleven children who were inpatients at a tertiary hospital and had diazoxide unresponsive HH due to mutations in the ABCC8 gene.
|
27898257 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data describe structural characterization of SUR1 NBD1 and shed light on the underlying molecular basis of mutations that cause congenital hyperinsulinism.
|
28346775 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
From day 1 of life she had severe hypoglycaemia with an inappropriately elevated insulin concentration consistent with congenital hyperinsulinism (CHI), confirmed by the finding of a homozygous mutation in ABCC8 (encoding the sulfonylurea receptor 1).
|
28752386 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.
|
28328534 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More than half of the diazoxide-unresponsive CHI detected mutations are in ABCC8 and KCNJ11 genes.
|
28270372 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Diagnosis of ABCC8 Congenital Hyperinsulinism of Infancy in a 20-Year-Old Man Evaluated for Factitious Hypoglycemia.
|
27754802 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
As a model, we used a patient with transient CHI that paternally inherited novel heterozygous mutations in ABCC8 (p.Tyr1293Asp) and KCNJ11 (p.Arg50Trp) genes.
|
29127764 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types.
|
28740482 |
2017 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCC8 gene were the most common cause of CHI in our cohort.
|
26758964 |
2016 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI).
|
27934599 |
2016 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
There are now 11 genes associated with monogenic forms of HI (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1), as well as several syndromic genetic forms of HI (eg, Beckwith-Wiedemann, Kabuki, and Turner syndromes).
|
26908106 |
2016 |
|
Congenital Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ABCC8 mutations are the most frequent cause of CHI in Spain.
|
27188453 |
2016 |
|
Congenital Hyperinsulinism
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
|
27188453 |
2016 |
|
Congenital Hyperinsulinism
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
|
27573238 |
2016 |