Literature DB >> 25174781

Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.

Letícia S Weinert1, Sandra P Silveiro1, Fernando M A Giuffrida2, Vivian T Cunha1, Caroline Bulcão3, Luis Eduardo Calliari4, Thais Della Manna5, Ilda S Kunii6, Renata P Dotto6, Magnus R Dias-da-Silva6, André F Reis7.   

Abstract

Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families.
Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Glucokinase; HNF1A; Maturity-onset diabetes of the young (MODY); Monogenic diabetes

Mesh：

Substances：

Year:  2014        PMID： 25174781     DOI： 10.1016/j.diabres.2014.08.006

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


  3 in total

Review 1.  Undiagnosed MODY: Time for Action.

Authors:  Jeffrey W Kleinberger; Toni I Pollin
Journal:  Curr Diab Rep       Date:  2015-12       Impact factor: 4.810

2.  Targeted sequencing identifies novel variants in common and rare MODY genes.

Authors:  Lucas S de Santana; Lilian A Caetano; Aline D Costa-Riquetto; Pedro C Franco; Renata P Dotto; André F Reis; Letícia S Weinert; Sandra P Silveiro; Marcio F Vendramini; Flaviene A do Prado; Giovanna C P Abrahão; Ana Gregória F P de Almeida; Maria da G Rodrigues Tavares; Wagner Rodrigo B Gonçalves; Augusto C Santomauro Junior; Bruno Halpern; Alexander A L Jorge; Marcia Nery; Milena G Teles
Journal:  Mol Genet Genomic Med       Date:  2019-10-08       Impact factor: 2.183

3.  Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.

Authors:  Maria I Alvelos; Catarina I Gonçalves; Eduarda Coutinho; Joana T Almeida; Margarida Bastos; Maria L Sampaio; Miguel Melo; Sofia Martins; Isabel Dinis; Alice Mirante; Leonor Gomes; Joana Saraiva; Bernardo D Pereira; Susana Gama-de-Sousa; Carolina Moreno; Daniela Guelho; Diana Martins; Carla Baptista; Luísa Barros; Mara Ventura; Maria M Gomes; Manuel C Lemos
Journal:  J Clin Med       Date:  2020-01-20       Impact factor: 4.241
  3 in total

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