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

页码：884 / 887

页数：4

共 14 条

[1] New Uses for Old Drugs: Neonatal Diabetes and Sulphonylureas [J].

Ashcroft, Frances M. .

CELL METABOLISM, 2010, 11 (03) :179-181

[2] Reversible changes in pancreatic islet structure and function produced by elevated blood glucose [J].

Brereton, Melissa F. ;

Iberl, Michaela ;

Shimomura, Kenju ;

Zhang, Quan ;

Adriaenssens, Alice E. ;

Proks, Peter ;

Spiliotis, Ioannis I. ;

Dace, William ;

Mattis, Katia K. ;

Ramracheya, Reshma ;

Gribble, Fiona M. ;

Reimann, Frank ;

Clark, Anne ;

Rorsman, Patrik ;

Ashcroft, Frances M. .

NATURE COMMUNICATIONS, 2014, 5

[3] Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons [J].

Carmody, David ;

Bell, Charles D. ;

Hwang, Jessica L. ;

Dickens, Jazzmyne T. ;

Sima, Daniela I. ;

Felipe, Dania L. ;

Zimmer, Carrie A. ;

Davis, Ajuah O. ;

Kotlyarevska, Kateryna ;

Naylor, Rochelle N. ;

Philipson, Louis H. ;

Greeley, Siri Atma W. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (12) :E2709-E2714

[4] The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study [J].

De Franco, Elisa ;

Flanagan, Sarah E. ;

Houghton, Jayne A. L. ;

Allen, Hana Lango ;

Mackay, Deborah J. G. ;

Temple, I. Karen ;

Ellard, Sian ;

Hattersley, Andrew T. .

LANCET, 2015, 386 (9997) :957-963

[5] Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11 [J].

Edghill, Emma L. ;

Flanagan, Sarah E. ;

Ellard, Sian .

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS, 2010, 11 (03) :193-198

[6] Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood [J].

Flanagan, Sarah E. ;

Patch, Ann-Marie ;

Mackay, Deborah J. G. ;

Edghill, Emma L. ;

Gloyn, Anna L. ;

Robinson, David ;

Shield, Julian P. H. ;

Temple, Karen ;

Ellard, Sian ;

Hattersley, Andrew T. .

DIABETES, 2007, 56 (07) :1930-1937

[7] 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 [J].

Flanagan, SE ;

Edghill, EL ;

Gloyn, AL ;

Ellard, S ;

Hattersley, AT .

DIABETOLOGIA, 2006, 49 (06) :1190-1197

[8]

Hattersley AT, TRANSFERRING PATIENT

[9] A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated [J].

Maennikkoe, Roope ;

Stansfeld, Phillip J. ;

Ashcroft, Alexandra S. ;

Hattersley, Andrew T. ;

Sansom, Mark S. P. ;

Ellard, Sian ;

Ashcroft, Frances M. .

JOURNAL OF PHYSIOLOGY-LONDON, 2011, 589 (13) :3071-3083

[10] Fetal Macrosomia and Neonatal Hyperinsulinemic Hypoglycemia Associated With Transplacental Transfer of Sulfonylurea in a Mother With KCNJ11-Related Neonatal Diabetes [J].

Myngheer, Nele ;

Allegaert, Karel ;

Hattersley, Andrew ;

McDonald, Tim ;

Kramer, Holger ;

Ashcroft, Frances M. ;

Verhaeghe, Johan ;

Mathieu, Chantal ;

Casteels, Kristina .

DIABETES CARE, 2014, 37 (12) :3333-3335

← 1 2 →