|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in INS gene linked to permanent neonatal diabetes mellitus.
|
30915639 |
2019 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic screening for the INS gene did not reveal an evident role in the diagnosis of PNDM.
|
27279137 |
2017 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report four cases of PNDM.None of the infants or their parents had INS, KCNJ11, or ABCC8 genetic mutations.
|
25052923 |
2014 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Permanent neonatal diabetes caused by a novel mutation in the INS gene.
|
23107109 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
[Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].
|
23245869 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects have been identified in∼60% of cases, with mutations in ABCC8, KCNJ11 and INS being the most frequent causes of PNDM.
|
23562494 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic diagnosis.
|
22369132 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive EIF2AK3 gene mutations were the commonest cause of PNDM in the Arab cohort (22.7%) followed by INS (12.5%), and KCNJ11 and GCK (5.7% each), whereas K(ATP) channel mutations were the commonest cause (29.9%) in the British cohort.
|
22859427 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
|
22498247 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.
|
21910811 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we defined a new variant of a known mutation, INS Exon 1-3 homozygous deletion, in two siblings diagnosed with permanent neonatal diabetes mellitus.
|
21823539 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review on monogenic diabetes.
|
21844708 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
|
21592955 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
|
20938745 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
|
20133622 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months.
|
18662362 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
BEFREE |
In conclusion, we find that mutations in the insulin gene that promote proinsulin misfolding may cause PNDM.
|
18451997 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Insulin gene mutations as a cause of permanent neonatal diabetes.
|
17855560 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Insulin gene mutations as a cause of permanent neonatal diabetes.
|
17855560 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
MGD |
Mapping of murine diabetogenic gene mody on chromosome 7 at D7Mit258 and its involvement in pancreatic islet and beta cell development during the perinatal period.
|
9593767 |
1998 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|