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Trends in molecular medicine

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: New insights and new treatment

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Pages 186-195 | Published online: 08 Jul 2009

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Julian P.H. Shield, Sarah E. Flanagan, Deborah J. Mackay, Lorna W. Harries, Peter Proks, Christophe Girard, Frances M. Ashcroft, I. Karen Temple & Sian Ellard. (2008) Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy . Diabetes 57:1, pages 255-258.
Crossref
José Marín-García, Michael J. Goldenthal & Gordon W. Moe. 2008. Aging and the Heart. Aging and the Heart 277 305 .
A. M. Patch, S. E. Flanagan, C. Boustred, A. T. Hattersley & S. Ellard. (2007) Mutations in the ABCC8 gene encoding the SUR1 subunit of the K ATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period . Diabetes, Obesity and Metabolism 9:s2, pages 28-39.
Crossref
Shigeru Suzuki, Yoshio Makita, Tokuo Mukai, Kumihiro Matsuo, Osamu Ueda & Kenji Fujieda. (2007) Molecular Basis of Neonatal Diabetes in Japanese Patients. The Journal of Clinical Endocrinology & Metabolism 92:10, pages 3979-3985.
Crossref
Julian Shield, Maciej T. Malecki, Nicola A. Bridges & Jeremy Allgrove. 2007. Evidence‐based Paediatric and Adolescent Diabetes. Evidence‐based Paediatric and Adolescent Diabetes 197 220 .
Julie StøyEmma L. Edghill, Sarah E. Flanagan, Honggang YeVeronica P. PazAnna PluzhnikovJennifer E. BelowM. Geoffrey HayesNancy J. CoxGregory M. Lipkind, Rebecca B. Lipton, Siri Atma W. Greeley, Ann-Marie Patch, Sian Ellard, Donald F. Steiner, Andrew T. Hattersley, Louis H. PhilipsonGraeme I. Bell. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. Proceedings of the National Academy of Sciences 104:38, pages 15040-15044.
Crossref
Nadia Bahi-Buisson, Monica Eisermann, Sylvie Nivot, Christine Bellanné-Chantelot, Olivier Dulac, Nathalie Bach, Perrine Plouin, Catherine Chiron & Pascale de Lonlay. (2016) Infantile Spasms as an Epileptic Feature of DEND Syndrome Associated With an Activating Mutation in the Potassium Adenosine Triphosphate (ATP) Channel, Kir6.2. Journal of Child Neurology 22:9, pages 1147-1150.
Crossref
Martijn van de BuntAnna L Gloyn. (2007) Monogenic disorders of the pancreatic β-cell: personalizing treatment for rare forms of diabetes and hypoglycemia. Personalized Medicine 4:3, pages 247-259.
Crossref
Sarah E. Flanagan, Ann-Marie Patch, Deborah J.G. Mackay, Emma L. Edghill, Anna L. Gloyn, David Robinson, Julian P.H. Shield, Karen Temple, Sian Ellard & Andrew T. Hattersley. (2007) Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood. Diabetes 56:7, pages 1930-1937.
Crossref
Emma L. Edghill, Anna L. Gloyn, Anne Goriely, Lorna W. Harries, Sarah E. Flanagan, Julia Rankin, Andrew T. Hattersley & Sian Ellard. (2007) Origin of de Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings. The Journal of Clinical Endocrinology & Metabolism 92:5, pages 1773-1777.
Crossref
Joseph Bryan, Alvaro Muñoz, Xinna Zhang, Martina Düfer, Gisela Drews, Peter Krippeit-Drews & Lydia Aguilar-Bryan. (2006) ABCC8 and ABCC9: ABC transporters that regulate K+ channels. Pflügers Archiv - European Journal of Physiology 453:5, pages 703-718.
Crossref
JOSÉ MARÍN-GARCÍA. 2007. Post-Genomic Cardiology. Post-Genomic Cardiology 473 510 .
Andrew Hattersley, Jan Bruining, Julian Shield, Pal Njolstad & Kim Donaghue. (2006) ISPAD Clinical Practice Consensus Guidelines 2006?2007 The diagnosis and management of monogenic diabetes in children. Pediatric Diabetes 7:6, pages 352-360.
Crossref
Joseph C. Koster, Maria S. Remedi, Ricard Masia, Brian Patton, Ailing Tong & Colin G. Nichols. (2006) Expression of ATP-Insensitive KATP Channels in Pancreatic β-Cells Underlies a Spectrum of Diabetic Phenotypes. Diabetes 55:11, pages 2957-2964.
Crossref
A. S. Slingerland, R. Nuboer, M. Hadders-Algra, A. T. Hattersley & G. J. Bruining. (2006) Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia 49:11, pages 2559-2563.
Crossref
Annabelle S. Slingerland. (2006) Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient. Reviews in Endocrine and Metabolic Disorders 7:3, pages 171-185.
Crossref
Ewan R. Pearson, Isabelle Flechtner, Pål R. Njølstad, Maciej T. Malecki, Sarah E. Flanagan, Brian Larkin, Frances M. Ashcroft, Iwar Klimes, Ethel Codner, Violeta Iotova, Annabelle S. Slingerland, Julian Shield, Jean-Jacques Robert, Jens J. Holst, Penny M. Clark, Sian Ellard, Oddmund Søvik, Michel Polak & Andrew T. Hattersley. (2006) Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations. New England Journal of Medicine 355:5, pages 467-477.
Crossref
Peter Proks, Amanda L. Arnold, Jan Bruining, Christophe Girard, Sarah E. Flanagan, Brian Larkin, Kevin Colclough, Andrew T. Hattersley, Frances M. Ashcroft & Sian Ellard. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Human Molecular Genetics 15:11, pages 1793-1800.
Crossref
J. A. Maassen. (2006) Mitochondrial dysfunction in adipocytes: the culprit in type 2 diabetes?. Diabetologia 49:4, pages 619-620.
Crossref
H John, SE Flanagan, R Corrall, AT Hattersley, S Ellard & M Shepherd. (2005) Neonatal diabetes is more than just a paediatric problem: 57 years of diabetes from a Kir6.2 mutation. Practical Diabetes International 22:9, pages 342-344.
Crossref

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