Literature DB >> 21604084

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

A M Steele, N D Tribble, R Caswell, K J Wensley, A T Hattersley, A L Gloyn, S Ellard.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21604084     DOI： 10.1007/s00125-011-2194-5

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


× No keyword cloud information.
  7 in total

1.  Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.

Authors:  Sarah E Flanagan; Ann-Marie Patch; Sian Ellard
Journal:  Genet Test Mol Biomarkers       Date:  2010-08

2.  From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Authors:  Jørn V Sagen; Stella Odili; Lise Bjørkhaug; Dorothy Zelent; Carol Buettger; Jae Kwagh; Charles Stanley; Knut Dahl-Jørgensen; Carine de Beaufort; Graeme I Bell; Yi Han; Joseph Grimsby; Rebecca Taub; Anders Molven; Oddmund Søvik; Pål R Njølstad; Franz M Matschinsky
Journal:  Diabetes       Date:  2006-06       Impact factor: 9.461

Review 3.  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

4.  Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Authors:  Anna L Gloyn; Stella Odili; Dorothy Zelent; Carol Buettger; Harriet A J Castleden; Anna M Steele; Amanda Stride; Chyio Shiota; Mark A Magnuson; Renata Lorini; Giuseppe d'Annunzio; Charles A Stanley; Jae Kwagh; Emile van Schaftingen; Maria Veiga-da-Cunha; Fabrizio Barbetti; Pete Dunten; Yi Han; Joseph Grimsby; Rebecca Taub; Sian Ellard; Andrew T Hattersley; Franz M Matschinsky
Journal:  J Biol Chem       Date:  2005-01-25       Impact factor: 5.157

5.  Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Authors:  K L Thomson; A L Gloyn; K Colclough; M Batten; L I S Allen; F Beards; A T Hattersley; S Ellard
Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

Review 6.  Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Authors:  Kara K Osbak; Kevin Colclough; Cecile Saint-Martin; Nicola L Beer; Christine Bellanné-Chantelot; Sian Ellard; Anna L Gloyn
Journal:  Hum Mutat       Date:  2009-11       Impact factor: 4.878

7.  Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.

Authors:  S Ellard; C Bellanné-Chantelot; A T Hattersley
Journal:  Diabetologia       Date:  2008-02-23       Impact factor: 10.122
  7 in total
  8 in total

1.  GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.

Authors:  David Carmody; Rochelle N Naylor; Charles D Bell; Shivani Berry; Jazzmyne T Montgomery; Elizabeth C Tadie; Jessica L Hwang; Siri Atma W Greeley; Louis H Philipson
Journal:  Acta Diabetol       Date:  2016-04-22       Impact factor: 4.280

2.  Clinical utility gene card for: Maturity-onset diabetes of the young.

Authors:  Kevin Colclough; Cécile Saint-Martin; José Timsit; Sian Ellard; Christine Bellanné-Chantelot
Journal:  Eur J Hum Genet       Date:  2014-02-12       Impact factor: 4.246

Review 3.  When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.

Authors:  Sara Althari; Anna L Gloyn
Journal:  Rev Diabet Stud       Date:  2016-02-10

Review 4.  The Genetic Basis of Metabolic Disease.

Authors:  Inês Barroso; Mark I McCarthy
Journal:  Cell       Date:  2019-03-21       Impact factor: 41.582

5.  Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Authors:  Lucia Valentínová; Nicola L Beer; Juraj Staník; Nicholas D Tribble; Martijn van de Bunt; Miroslava Hučková; Amy Barrett; Iwar Klimeš; Daniela Gašperíková; Anna L Gloyn
Journal:  PLoS One       Date:  2012-04-06       Impact factor: 3.240

6.  Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Authors:  Daniela Šimčíková; Lucie Kocková; Kateřina Vackářová; Miroslav Těšínský; Petr Heneberg
Journal:  Sci Rep       Date:  2017-08-25       Impact factor: 4.379

7.  Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Authors:  Daniela Šimčíková; Petr Heneberg
Journal:  Sci Rep       Date:  2019-12-09       Impact factor: 4.379

8.  Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Authors:  Anne Raimondo; Ali J Chakera; Soren K Thomsen; Kevin Colclough; Amy Barrett; Elisa De Franco; Alisson Chatelas; Huseyin Demirbilek; Teoman Akcay; Hussein Alawneh; Sarah E Flanagan; Martijn Van De Bunt; Andrew T Hattersley; Anna L Gloyn; Sian Ellard
Journal:  Hum Mol Genet       Date:  2014-07-11       Impact factor: 6.150
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.