The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

被引:3
作者
O'Connell, Susan M. [1 ]
Proks, Peter [2 ]
Kramer, Holger [2 ]
Mattis, Katia K. [2 ]
Sachse, Gregor [2 ]
Joyce, Caroline [3 ]
Houghton, Jayne A. L. [4 ]
Ellard, Sian [4 ]
Hattersley, Andrew T. [4 ]
Ashcroft, Frances M. [2 ]
O'Riordan, Stephen M. P. [1 ]
机构
[1] Cork Univ Hosp, Dept Paediat & Child Hlth, Cork, Ireland
[2] Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3PT, England
[3] Cork Univ Hosp, Dept Biochem, Cork, Ireland
[4] Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5AD, Devon, England
来源
CLINICAL CASE REPORTS | 2015年 / 3卷 / 10期
基金
英国惠康基金;
关键词
Glibenclamide; in vitro; K-ATP channel; neonatal diabetes;
D O I
10.1002/ccr3.370
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:884 / 887
页数:4
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共 14 条
[11]   Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations [J].
Pearson, Ewan R. ;
Flechtner, Isabelle ;
Njolstad, Pal R. ;
Malecki, Maciej T. ;
Flanagan, Sarah E. ;
Larkin, Brian ;
Ashcroft, Frances M. ;
Klimes, Iwar ;
Codner, Ethel ;
Iotova, Violeta ;
Slingerland, Annabelle S. ;
Shield, Julian ;
Robert, Jean-Jacques ;
Holst, Jens J. ;
Clark, Penny M. ;
Ellard, Sian ;
Sovik, Oddmund ;
Polak, Michel ;
Hattersley, Andrew T. .
NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (05) :467-477
[12]   Molecular Mechanism of Sulphonylurea Block of KATP Channels Carrying Mutations That Impair ATP Inhibition and Cause Neonatal Diabetes [J].
Proks, Peter ;
de Wet, Heidi ;
Ashcroft, Frances M. .
DIABETES, 2013, 62 (11) :3909-3919
[13]   Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene [J].
Rachmiel, Marianna ;
Rubio-Cabezas, Oscar ;
Ellard, Sian ;
Hattersley, Andrew T. ;
Perlman, Kusiel .
PEDIATRIC DIABETES, 2012, 13 (06) :e26-e29
[14]   Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations [J].
Rafiq, Meena ;
Flanagan, Sarah E. ;
Patch, Ann-Marie ;
Shields, Beverley M. ;
Ellard, Sian ;
Hattersley, Andrew T. .
DIABETES CARE, 2008, 31 (02) :204-209