|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation, c.125T>G (p. Val42Gly), was identified in a neonatal diabetes mellitus patient's INS gene.
|
29890547 |
2020 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
ER stress due to proinsulin misfolding has an important role in the pathophysiology of rare forms of permanent neonatal diabetes (PNDM) and probably also of common type 1 (T1D) and type 2 diabetes (T2D).
|
30230182 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that neonatal diabetes-associated INS-mutations lead to defective beta-cell mass expansion, contributing to diabetes development.
|
30412052 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation.
|
29305569 |
2018 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations in the insulin gene that affect proinsulin biosynthesis and folding are associated with a spectrum of diabetes phenotypes, from permanent neonatal diabetes to MODY.
|
28478482 |
2017 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings.
|
27487489 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dominant heterozygous INS mutations are the second most common cause of permanent neonatal diabetes.
|
27035557 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
INS gene mutations are common causes of permanent neonatal diabetes but rare causes of antibody-negative diabetes in children.
|
26530398 |
2016 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
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 |
A novel SNP in 3' UTR of INS gene: A case report of neonatal diabetes mellitus.
|
26212367 |
2015 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous INS mutations represent one of the most common gene causes of neonatal diabetes mellitus.
|
26101329 |
2015 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A family with permanent neonatal diabetes due to a novel mutation in INS gene.
|
25765664 |
2015 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neonatal diabetes in an infant of diabetic mother: same novel INS missense mutation in the mother and her offspring.
|
24566359 |
2014 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this case report, we describe a novel mutation (p.L30Q) in the INS gene resulting in permanent DM in a four-month-old female who presented with polyphagia, polyuria, irritability, and hyperglycemia with glucosuria and ketonuria without acidosis.
|
23107109 |
2013 |
|
Neonatal diabetes mellitus
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy.
|
21910811 |
2012 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A monogenic basis for NDM was established in 30 subjects (seven UPD6, 10 KCNJ11, seven ABCC8, two FOXP3, two PDX1, one INS, one EIF2AK3).
|
20546293 |
2010 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes.
|
20133622 |
2010 |
|
Neonatal diabetes mellitus
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We examined loss of pancreatic insulin in hProCpepGFP transgenic mice mated to Akita mice that develop neonatal diabetes because of the expression of misfolded proinsulin.
|
19880509 |
2010 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
|
20034470 |
2010 |
|
Neonatal diabetes mellitus
|
0.500 |
Biomarker
|
disease |
BEFREE |
The most frequent genes involved in monogenic diabetes [KCNJ11 and INS for neonatal diabetes and HNF1A and HNF4A for maturity-onset diabetes of the young (MODY)] were directly sequenced.
|
19900242 |
2009 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin (INS) gene can cause neonatal diabetes.
|
18192540 |
2008 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
|
18162506 |
2008 |
|
Neonatal diabetes mellitus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin (INS) gene have been recently described in families with neonatal diabetes.
|
18171712 |
2008 |