1 |
Neonatal diabetes mellitus due to complete glucokinase deficiency.
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5
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Njolstad PR...Bell GI
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11372010 |
2001 |
2 |
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.
62
5
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Slingerland AS...Hattersley AT
|
16636122 |
2006 |
3 |
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
62
5
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Flanagan SE...Hattersley AT
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16609879 |
2006 |
4 |
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
5
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Garcin L...Beltrand J
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32418263 |
2020 |
5 |
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
5
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Martinez R...Castano L
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28247534 |
2017 |
6 |
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
5
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Salomon-Estebanez M...Banerjee I
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27908292 |
2016 |
7 |
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
5
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Martinez R...Spanish Congenital Hyperinsulinism Group
|
27188453 |
2016 |
8 |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
5
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Kapoor RR...Hussain K
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23345197 |
2013 |
9 |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
5
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Snider KE...Ganguly A
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23275527 |
2013 |
10 |
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
5
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Wang F...Shyng SL
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22311976 |
2012 |
11 |
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011.
5
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21812132 |
2011 |
12 |
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
5
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Park SE...Yang SW
|
21422196 |
2011 |
13 |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
5
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Bellanne-Chantelot C...de Lonlay P
|
20685672 |
2010 |
14 |
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
5
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Barbetti F...Cuesta-Munoz AL
|
19884385 |
2009 |
15 |
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
5
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Flanagan SE...Ellard S
|
18767144 |
2009 |
16 |
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
57
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Turkkahraman D...Gloyn AL
|
18571549 |
2008 |
17 |
Neonatal diabetes mellitus.
5
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Aguilar-Bryan L...Bryan J
|
18436707 |
2008 |
18 |
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
5
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Lin YW...Shyng SL
|
18250167 |
2008 |
19 |
Molecular basis of neonatal diabetes in Japanese patients.
5
|
Suzuki S...Fujieda K
|
17635943 |
2007 |
20 |
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis.
5
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Haider S...Ashcroft FM
|
17673911 |
2007 |
21 |
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
5
|
Rica I...Castano L
|
17490422 |
2007 |
22 |
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
5
|
Flanagan SE...Hattersley AT
|
17446535 |
2007 |
23 |
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
5
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Girard CA...Ashcroft FM
|
17021801 |
2006 |
24 |
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.
5
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Flechtner I...Polak M
|
17296510 |
2006 |
25 |
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
5
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Pearson ER...Neonatal Diabetes International Collaborative Group
|
16885550 |
2006 |
26 |
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
5
|
Shimomura K...Ashcroft FM
|
16731833 |
2006 |
27 |
Molecular genetics goes to the diabetes clinic.
5
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Hattersley AT
|
16268330 |
2005 |
28 |
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
5
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Henwood MJ...Stanley CA
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15562009 |
2005 |
29 |
Toward linking structure with function in ATP-sensitive K+ channels.
5
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Bryan J...Aguilar-Bryan L
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15561897 |
2004 |
30 |
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.
57
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Njolstad PR...Matschinsky FM
|
14578306 |
2003 |
31 |
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
5
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Ribalet B...Weiss JN
|
12524280 |
2003 |
32 |
SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions.
5
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Babenko AP...Bryan J
|
12213829 |
2002 |
33 |
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
57
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Gloyn AL...Hattersley AT
|
11942315 |
2002 |
34 |
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
5
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Fournet JC...Junien C
|
11395395 |
2001 |
35 |
Neonatal diabetes: new insights into aetiology and implications.
57
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Shield JP
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10895036 |
2000 |
36 |
The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels.
5
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Babenko AP...Bryan J
|
10049691 |
1999 |
37 |
Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
5
|
Proks P...Ashcroft FM
|
9831713 |
1999 |
38 |
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
5
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Velho G...Froguel P
|
9049484 |
1997 |
39 |
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
5
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Stoffel M...Lesage S
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1502186 |
1992 |
40 |
Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.
62
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Tikhonovich Y...Tiulpakov A
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35648253 |
2022 |
41 |
Dominant Carbapenemase-Encoding Plasmids in Clinical Enterobacterales Isolates and Hypervirulent Klebsiella pneumoniae, Singapore.
62
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Yong M...Gan YH
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35876475 |
2022 |
42 |
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
62
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Yagasaki H...Inukai T
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35703918 |
2022 |
43 |
Canola as a potential forage.
62
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Safaei AR...Aghaalikhani M
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35967765 |
2022 |
44 |
Structural analysis of the microglia-interneuron interactions in the CA1 hippocampal area of the APP/PS1 mouse model of Alzheimer's disease.
62
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Gervais E...Topolnik L
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34919273 |
2022 |
45 |
Reverse atom transfer radical polymerization of dimethyl itaconate initiated by a new azo initiator: AIBME.
62
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Zhang X...Wang R
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35520115 |
2022 |
46 |
MRI-assessed tumor-free distance to serosa predicts deep myometrial invasion and poor outcome in endometrial cancer.
62
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Dybvik JA...Haldorsen IS
|
35000020 |
2022 |
47 |
Effect of supplement crude protein concentration on milk production over the main grazing season and on nitrogen excretion in late-lactation grazing dairy cows.
62
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Doran MJ...Pierce KM
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34635358 |
2022 |
48 |
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
62
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McClenaghan C...Cianfarani S
|
34999583 |
2022 |
49 |
Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation.
62
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Barash G...Rachmiel M
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34272607 |
2021 |
50 |
Patients', carers' and clinicians' attitudes towards alternative terms to describe the at-risk for psychosis state.
62
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Polari A...Lavoie S
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34507056 |
2021 |