Literature DB >> 16205880

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

C Colombo, M Delvecchio, C Zecchino, M F Faienza, L Cavallo, F Barbetti.   

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Year:  2005        PMID： 16205880     DOI： 10.1007/s00125-005-1958-1

Source DB:  PubMed          Journal:  Diabetologia        ISSN： 0012-186X            Impact factor:   10.122


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  9 in total

1.  Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Authors:  Anna L Gloyn; Frank Reimann; Christophe Girard; Emma L Edghill; Peter Proks; Ewan R Pearson; I Karen Temple; Deborah J G Mackay; Julian P H Shield; Debra Freedenberg; Kathryn Noyes; Sian Ellard; Frances M Ashcroft; Fiona M Gribble; Andrew T Hattersley
Journal:  Hum Mol Genet       Date:  2005-02-17       Impact factor: 6.150

2.  The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.

Authors:  T Klupa; E L Edghill; J Nazim; J Sieradzki; S Ellard; A T Hattersley; M T Malecki
Journal:  Diabetologia       Date:  2005-04-19       Impact factor: 10.122

3.  KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Authors:  Ornella Massa; Dario Iafusco; Elena D'Amato; Anna L Gloyn; Andrew T Hattersley; Bruno Pasquino; Giorgio Tonini; Francesco Dammacco; Giorgio Zanette; Franco Meschi; Ottavia Porzio; Gianfranco Bottazzo; Antonino Crinó; Renata Lorini; Franco Cerutti; Maurizio Vanelli; Fabrizio Barbetti
Journal:  Hum Mutat       Date:  2005-01       Impact factor: 4.878

4.  Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

Authors:  Amnon Zung; Benjamin Glaser; Revital Nimri; Zvi Zadik
Journal:  J Clin Endocrinol Metab       Date:  2004-11       Impact factor: 5.958

5.  Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Authors:  Jørn V Sagen; Helge Raeder; Eba Hathout; Naim Shehadeh; Kolbeinn Gudmundsson; Halvor Baevre; Dianne Abuelo; Chanika Phornphutkul; Janne Molnes; Graeme I Bell; Anna L Gloyn; Andrew T Hattersley; Anders Molven; Oddmund Søvik; Pål R Njølstad
Journal:  Diabetes       Date:  2004-10       Impact factor: 9.461

6.  Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Authors:  Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; Jerry K H Wales; Penelope Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Journal:  N Engl J Med       Date:  2004-04-29       Impact factor: 91.245

Review 7.  Neonatal and very-early-onset diabetes mellitus.

Authors:  Michel Polak; Julian Shield
Journal:  Semin Neonatol       Date:  2004-02

8.  Glucose-sensing in glucagon-like peptide-1-secreting cells.

Authors:  Frank Reimann; Fiona M Gribble
Journal:  Diabetes       Date:  2002-09       Impact factor: 9.461

9.  Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

Authors:  Martine Vaxillaire; Céline Populaire; Kanetee Busiah; Hélène Cavé; Anna L Gloyn; Andrew T Hattersley; Paul Czernichow; Philippe Froguel; Michel Polak
Journal:  Diabetes       Date:  2004-10       Impact factor: 9.461
  9 in total
  8 in total

1.  Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene.

Authors:  G Tonini; C Bizzarri; R Bonfanti; M Vanelli; F Cerutti; E Faleschini; F Meschi; F Prisco; E Ciacco; M Cappa; C Torelli; V Cauvin; S Tumini; D Iafusco; F Barbetti
Journal:  Diabetologia       Date:  2006-07-01       Impact factor: 10.122

2.  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.

Authors:  A S Slingerland; R Nuboer; M Hadders-Algra; A T Hattersley; G J Bruining
Journal:  Diabetologia       Date:  2006-09-19       Impact factor: 10.122

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.

Authors:  S E Flanagan; E L Edghill; A L Gloyn; S Ellard; A T Hattersley
Journal:  Diabetologia       Date:  2006-04-12       Impact factor: 10.122

4.  Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Authors:  Carlo Colombo; Ottavia Porzio; Ming Liu; Ornella Massa; Mario Vasta; Silvana Salardi; Luciano Beccaria; Carla Monciotti; Sonia Toni; Oluf Pedersen; Torben Hansen; Luca Federici; Roberta Pesavento; Francesco Cadario; Giorgio Federici; Paolo Ghirri; Peter Arvan; Dario Iafusco; Fabrizio Barbetti
Journal:  J Clin Invest       Date:  2008-06       Impact factor: 14.808

Review 5.  Neonatal diabetes mellitus.

Authors:  Lydia Aguilar-Bryan; Joseph Bryan
Journal:  Endocr Rev       Date:  2008-04-24       Impact factor: 19.871

6.  Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation.

Authors:  Dario Iafusco; Angela Zanfardino; Alessia Piscopo; Francesca Casaburo; Angelica De Nigris; Salvatore Alfiero; Giuseppina Russo; Mattia Arenella; Maria Cecilia Russo; Fabrizio Barbetti
Journal:  Diabetologia       Date:  2021-05-14       Impact factor: 10.122

Review 7.  Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.

Authors:  Annabelle S Slingerland
Journal:  Rev Endocr Metab Disord       Date:  2006-09       Impact factor: 6.514

8.  The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.

Authors:  Veronica Lang; Peter E Light
Journal:  Pharmgenomics Pers Med       Date:  2010-11-24
  8 in total

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