|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present the third case of homozygous GCK mutations associated with mild hyperglycemia, rather than PNDM.
|
31197960 |
2019 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
In contrast, inactivating mutations of GCK result in diabetes, including a mild form (MODY2) and a severe form (permanent neonatal diabetes mellitus (PNDM)).
|
29044608 |
2018 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis identified two GCK mutations that were inherited in trans-p. [(R43P);(T206M)], confirming a diagnosis of GCK-PNDM.
|
24606082 |
2014 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
|
25015100 |
2014 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in glucokinase (GCK) are associated with mild fasting hyperglycemia and gestational diabetes mellitus while homozygous or compound heterozygous GCK mutations result in permanent neonatal diabetes mellitus.
|
21978167 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
|
22498247 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in the glucokinase gene (GCK) result in a complete deficiency of the GCK enzyme, which leads to permanent neonatal diabetes mellitus.
|
23155716 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
To contribute to the understanding of experimental pharmacology and therapeutics of GKAs, we have tested the efficacy of one of these agents (Piragliatin) in isolated islets from humans with type 2 diabetes mellitus (T2DM), from mice with glucokinase (GK) mutations induced by ethyl-nitroso-urea (ENU) as models of Maturity Onset Diabetes of the Young linked to GK and Permanent Neonatal Diabetes Mellitus linked to GK (PNDM-GK) and finally of islets rendered glucose insensitive by treatment with the sulphonyl urea compound glyburide in organ culture.
|
22928571 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Permanent neonatal diabetes mellitus (PNDM) caused by homozygous mutations in the glucokinase gene (GCK) is rare and only eight homozygous GCK mutations have been reported so far.
|
21518409 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review on monogenic diabetes.
|
21844708 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous inactivating GCK mutations result in a more severe phenotype presenting at birth as permanent neonatal diabetes mellitus (PNDM).
|
19790256 |
2009 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nonetheless, sulphonylurea treatment should be tried in patients with GCK-PNDM, particularly those with mutations resulting in less severe kinetic defects, in whom improved glycemic control may be obtained with lower doses of insulin.
|
18571549 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified 35 carriers of GCK mutations causing MODY2, two carriers of TCF1 mutations causing MODY3, one carrier of a HNF4A mutation causing MODY1 and one carrier of a KCNJ11 mutation causing permanent neonatal diabetes mellitus.
|
16602010 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients.
|
15580558 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous inactivating GCK mutations result in a more severe phenotype, presenting at birth as permanent neonatal diabetes mellitus (PNDM).
|
14517946 |
2003 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Neonatal diabetes mellitus due to complete glucokinase deficiency.
|
11372010 |
2001 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|