1 |
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.
24
5
|
Flanagan SE...Ellard S
|
18767144 |
2009 |
2 |
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
24
5
|
Flanagan SE...Hattersley AT
|
17446535 |
2007 |
3 |
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
24
5
|
Girard CA...Ashcroft FM
|
17021801 |
2006 |
4 |
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
24
5
|
Pearson ER...Neonatal Diabetes International Collaborative Group
|
16885550 |
2006 |
5 |
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.
24
5
|
Flanagan SE...Hattersley AT
|
16609879 |
2006 |
6 |
Molecular basis of neonatal diabetes in Japanese patients.
62
5
|
Suzuki S...Fujieda K
|
17635943 |
2007 |
7 |
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
62
5
|
Rica I...Castano L
|
17490422 |
2007 |
8 |
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.
62
5
|
Flechtner I...Polak M
|
17296510 |
2006 |
9 |
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
62
5
|
Shimomura K...Ashcroft FM
|
16731833 |
2006 |
10 |
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
5
|
Garcin L...Beltrand J
|
32418263 |
2020 |
11 |
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
5
|
Martinez R...Castano L
|
28247534 |
2017 |
12 |
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
5
|
Salomon-Estebanez M...Banerjee I
|
27908292 |
2016 |
13 |
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
5
|
Martinez R...Spanish Congenital Hyperinsulinism Group
|
27188453 |
2016 |
14 |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
5
|
Kapoor RR...Hussain K
|
23345197 |
2013 |
15 |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
5
|
Snider KE...Ganguly A
|
23275527 |
2013 |
16 |
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
62
24
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Shaw-Smith C...Ellard S
|
22369132 |
2012 |
17 |
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
5
|
Wang F...Shyng SL
|
22311976 |
2012 |
18 |
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011.
5
|
|
21812132 |
2011 |
19 |
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 |
20 |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
5
|
Bellanne-Chantelot C...de Lonlay P
|
20685672 |
2010 |
21 |
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.
62
24
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Wiedemann B...Hofer S
|
19496964 |
2010 |
22 |
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 |
23 |
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
62
24
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Rubio-Cabezas O...Ellard S
|
19837917 |
2009 |
24 |
Diagnosis and treatment of neonatal diabetes: a United States experience.
62
24
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Stoy J...United States Neonatal Diabetes Working Group
|
18662362 |
2008 |
25 |
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
62
24
|
Turkkahraman D...Gloyn AL
|
18571549 |
2008 |
26 |
Neonatal diabetes mellitus.
5
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Aguilar-Bryan L...Bryan J
|
18436707 |
2008 |
27 |
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
5
|
Lin YW...Shyng SL
|
18250167 |
2008 |
28 |
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
62
24
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Patch AM...Ellard S
|
17919176 |
2007 |
29 |
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis.
5
|
Haider S...Ashcroft FM
|
17673911 |
2007 |
30 |
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
62
24
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Ellard S...Ashcroft FM
|
17668386 |
2007 |
31 |
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
62
24
|
Masia R...Nichols CG
|
17317760 |
2007 |
32 |
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
62
24
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Stanik J...Klimes I
|
17213273 |
2007 |
33 |
Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
62
24
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Polak M...Cave H
|
17349054 |
2007 |
34 |
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
62
24
|
Masia R...Barbetti F
|
17259376 |
2007 |
35 |
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.
5
|
Slingerland AS...Hattersley AT
|
16636122 |
2006 |
36 |
Molecular genetics goes to the diabetes clinic.
5
|
Hattersley AT
|
16268330 |
2005 |
37 |
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
62
24
|
Gloyn AL...Hattersley AT
|
15718250 |
2005 |
38 |
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
5
|
Henwood MJ...Stanley CA
|
15562009 |
2005 |
39 |
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
62
24
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Massa O...Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology
|
15580558 |
2005 |
40 |
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
62
24
|
Proks P...Ashcroft FM
|
15583126 |
2004 |
41 |
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
62
24
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Sellick GS...Houlston RS
|
15543146 |
2004 |
42 |
Toward linking structure with function in ATP-sensitive K+ channels.
5
|
Bryan J...Aguilar-Bryan L
|
15561897 |
2004 |
43 |
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
62
24
|
Yorifuji T...Nakahata T
|
15181075 |
2004 |
44 |
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
62
24
|
Schwitzgebel VM...Philippe J
|
12970316 |
2003 |
45 |
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
5
|
Ribalet B...Weiss JN
|
12524280 |
2003 |
46 |
SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions.
5
|
Babenko AP...Bryan J
|
12213829 |
2002 |
47 |
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.
62
24
|
Metz C...NDM French Study Group. Neonatal diabetes mellitus
|
12378186 |
2002 |
48 |
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
|
Fournet JC...Junien C
|
11395395 |
2001 |
49 |
The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels.
5
|
Babenko AP...Bryan J
|
10049691 |
1999 |
50 |
Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
5
|
Proks P...Ashcroft FM
|
9831713 |
1999 |