Literature DB >> 15838686

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.

T Klupa, E L Edghill, J Nazim, J Sieradzki, S Ellard, A T Hattersley, M T Malecki.   

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Year:  2005        PMID： 15838686     DOI： 10.1007/s00125-005-1731-5

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


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  7 in total

Review 1.  Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Authors:  A T Hattersley
Journal:  Diabet Med       Date:  1998-01       Impact factor: 4.359

2.  Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Authors:  Emma L Edghill; Anna L Gloyn; Kathleen M Gillespie; A Paul Lambert; Neil T Raymond; Peter G Swift; Sian Ellard; Edwin A M Gale; Andrew T Hattersley
Journal:  Diabetes       Date:  2004-11       Impact factor: 9.461

3.  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

4.  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

5.  Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

Authors:  Anna L Gloyn; Michael N Weedon; Katharine R Owen; Martina J Turner; Bridget A Knight; Graham Hitman; Mark Walker; Jonathan C Levy; Mike Sampson; Stephanie Halford; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
Journal:  Diabetes       Date:  2003-02       Impact factor: 9.461

Review 6.  Neonatal and very-early-onset diabetes mellitus.

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

7.  Comparative efficacy of a once-daily controlled-release formulation of glipizide and immediate-release glipizide in patients with NIDDM.

Authors:  M Berelowitz; C Fischette; W Cefalu; D S Schade; T Sutfin; I A Kourides
Journal:  Diabetes Care       Date:  1994-12       Impact factor: 19.112
  7 in total
  20 in total

1.  Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.

Authors:  Limei Liu; Kazuaki Nagashima; Takao Yasuda; Yanjun Liu; Hai-Rong Hu; Guang He; Bo Feng; Mingming Zhao; Langen Zhuang; Taishan Zheng; Theodore C Friedman; Kunsan Xiang
Journal:  Diabetologia       Date:  2013-09-10       Impact factor: 10.122

2.  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

Review 3.  Neonatal diabetes mellitus: a model for personalized medicine.

Authors:  Siri Atma W Greeley; Susan E Tucker; Rochelle N Naylor; Graeme I Bell; Louis H Philipson
Journal:  Trends Endocrinol Metab       Date:  2010-04-29       Impact factor: 12.015

4.  Precision medicine for a man presented with diabetes at 2-month old.

Authors:  Su Fen Ang; Clara Si Hua Tan; Jessie Choi Wan Fong; Su Chi Lim
Journal:  Eur J Hum Genet       Date:  2019-03-19       Impact factor: 4.246

5.  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

6.  Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene.

Authors:  Maria Al-Mahdi; Angham Al Mutair; Mohammed Al Balwi; Khalid Hussain
Journal:  Ann Saudi Med       Date:  2010 Mar-Apr       Impact factor: 1.526

7.  Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2.

Authors:  Jan Skupien; Maciej T Malecki; Wojciech Mlynarski; Tomasz Klupa; Krzysztof Wanic; Agnieszka Gach; Iwona Solecka; Jacek Sieradzki
Journal:  Rev Diabet Stud       Date:  2006-05-10

8.  Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation.

Authors:  Jennifer A Wambach; Bess A Marshall; Joseph C Koster; Neil H White; Colin G Nichols
Journal:  Pediatr Diabetes       Date:  2009-07-29       Impact factor: 4.866

Review 9.  Neonatal diabetes mellitus.

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

10.  Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

Authors:  Min Sun Kim; Sun Young Kim; Gu Hwan Kim; Han Wook Yoo; Dong Whan Lee; Dae Yeol Lee
Journal:  J Korean Med Sci       Date:  2007-08       Impact factor: 2.153
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