Literature DB >> 18672310

Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype.

Gilberto K Furuzawa1, Fernando M A Giuffrida, Carolina S V Oliveira, Antonio R Chacra, Sergio A Dib, André F Reis.   

Abstract

Prevalence of MODY2 and MODY3 mutations has been assessed in 23 Brazilian families with MODY phenotype. Mutations in HNF-1alpha have been found in 3 families (13%) and 2 families (8.7%) had new glucokinase mutations. These genes do not explain the majority of MODY cases in Brazilian population.

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Year:  2008        PMID： 18672310     DOI： 10.1016/j.diabres.2008.06.011

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


  9 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.  Variants of the HNF1α gene: A molecular approach concerning diabetic patients from southern Brazil.

Authors:  Naieli Bonatto; Viviane Nogaroto; Paulo V Svidnicki; Fábio Q Milléo; Sabrina Grassiolli; Mara C Almeida; Marcelo R Vicari; Roberto F Artoni
Journal:  Genet Mol Biol       Date:  2012-10-09       Impact factor: 1.771

3.  Low serum level of high-sensitivity C-reactive protein in a Japanese patient with maturity-onset diabetes of the young type 3 (MODY3).

Authors:  Tsuyoshi Ohki; Yoshihiko Utsu; Shinya Morita; Md Fazlul Karim; Yoshifumi Sato; Tatsuya Yoshizawa; Ken-Ichi Yamamura; Kentaro Yamada; Soji Kasayama; Kazuya Yamagata
Journal:  J Diabetes Investig       Date:  2014-04-10       Impact factor: 4.232

4.  Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes.

Authors:  Jesús Miguel Magaña-Cerino; Juan P Luna-Arias; María Luisa Labra-Barrios; Bartolo Avendaño-Borromeo; Xavier Miguel Boldo-León; Mirian Carolina Martínez-López
Journal:  Mol Genet Genomic Med       Date:  2016-11-30       Impact factor: 2.183

5.  Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.

Authors:  Sneha P; Thirumal Kumar D; George Priya Doss C; Siva R; Hatem Zayed
Journal:  PLoS One       Date:  2017-04-14       Impact factor: 3.240

6.  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

7.  HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study.

Authors:  Fernando M A Giuffrida; Gilberto K Furuzawa; Teresa S Kasamatsu; Marcos M Oliveira; Andre F Reis; Sergio A Dib
Journal:  Cardiovasc Diabetol       Date:  2009-06-02       Impact factor: 9.951

8.  Molecular diagnosis of maturity onset diabetes of the young in India.

Authors:  Veena V Nair; Aaron Chapla; Nishanth Arulappan; Nihal Thomas
Journal:  Indian J Endocrinol Metab       Date:  2013-05

9.  A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family.

Authors:  Peng Zhou; Ran Wei; Zhenkui Guo; Haining Zhu; Desmond Campbell; Qi Li; Xiaoqun Xu; Junfu Wang; Meng Luan; Xing Chen; Gang Chen
Journal:  Iran J Public Health       Date:  2016-02       Impact factor: 1.429
  9 in total

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