Literature DB >> 22341299

Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2.

Ashley H Shoemaker1, Jozef Zienkiewicz, Daniel J Moore.   

Abstract

A child with impaired fasting glucose was found to be heterozygous for a novel variant at c.659G>A in GCK and a variant at c.1663C>T in HNF1A. Structural modeling and clinical correlation suggests that the GCK variant causes monogenic diabetes while the variant in HNF1A is unlikely to be pathogenic.
Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

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Year:  2012        PMID： 22341299      PMCID： PMC3560353          DOI： 10.1016/j.diabres.2012.01.032

Source DB:  PubMed          Journal:  Diabetes Res Clin Pract        ISSN： 0168-8227            Impact factor:   5.602


  14 in total

Review 1.  Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.

Authors:  S S Fajans; G I Bell; K S Polonsky
Journal:  N Engl J Med       Date:  2001-09-27       Impact factor: 91.245

2.  beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

Authors:  T M Frayling; J C Evans; M P Bulman; E Pearson; L Allen; K Owen; C Bingham; M Hannemann; M Shepherd; S Ellard; A T Hattersley
Journal:  Diabetes       Date:  2001-02       Impact factor: 9.461

3.  beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.

Authors:  E R Pearson; G Velho; P Clark; A Stride; M Shepherd; T M Frayling; M P Bulman; S Ellard; P Froguel; A T Hattersley
Journal:  Diabetes       Date:  2001-02       Impact factor: 9.461

4.  SWISS-MODEL: An automated protein homology-modeling server.

Authors:  Torsten Schwede; Jürgen Kopp; Nicolas Guex; Manuel C Peitsch
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

5.  The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling.

Authors:  Konstantin Arnold; Lorenza Bordoli; Jürgen Kopp; Torsten Schwede
Journal:  Bioinformatics       Date:  2005-11-13       Impact factor: 6.937

6.  Interactive sites in the MyD88 Toll/interleukin (IL) 1 receptor domain responsible for coupling to the IL1beta signaling pathway.

Authors:  Chunsheng Li; Jozef Zienkiewicz; Jacek Hawiger
Journal:  J Biol Chem       Date:  2005-04-22       Impact factor: 5.157

Review 7.  Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities.

Authors:  F M Matschinsky; B Glaser; M A Magnuson
Journal:  Diabetes       Date:  1998-03       Impact factor: 9.461

8.  Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young.

Authors:  S S Fajans; M B Brown
Journal:  Diabetes Care       Date:  1993-09       Impact factor: 19.112

9.  A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.

Authors:  Maki Inoue; Yoshiyuki Sakuraba; Hiromi Motegi; Naoto Kubota; Hideaki Toki; Junko Matsui; Yukiyasu Toyoda; Ichitomo Miwa; Yasuo Terauchi; Takashi Kadowaki; Yutaka Shigeyama; Masato Kasuga; Takashi Adachi; Naomi Fujimoto; Rie Matsumoto; Keiko Tsuchihashi; Tomoko Kagami; Ayako Inoue; Hideki Kaneda; Junko Ishijima; Hiroshi Masuya; Tomohiro Suzuki; Shigeharu Wakana; Yoichi Gondo; Osamu Minowa; Toshihiko Shiroishi; Tetsuo Noda
Journal:  Hum Mol Genet       Date:  2004-04-21       Impact factor: 6.150

10.  Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report.

Authors:  Gabriele Forlani; Stefano Zucchini; Antonio Di Rocco; Raffaella Di Luzio; Mirella Scipione; Elena Marasco; Giovanni Romeo; Giulio Marchesini; Vilma Mantovani
Journal:  Diabetes Care       Date:  2010-08-12       Impact factor: 19.112
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