Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity‐onset diabetes of the young

2019 ◽  
Vol 41 (1) ◽  
pp. 129-132 ◽  
Author(s):  
Anatoly Tiulpakov ◽  
Natalia Zubkova ◽  
Nina Makretskaya ◽  
Tatiana S. Krasnova ◽  
Anna I. Melnikova ◽  
...  
Keyword(s):  
Gene Variants ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

scholarly journals Analysis of the glucokinase gene in Iranian families with maturity onset diabetes of the young

2013 ◽  
Vol 03 (04) ◽  
pp. 192-198
Author(s):  
Meisam Javadi ◽  
Houshang Rafatpanah ◽  
Seyed Morteza Taghavi ◽  
Jalil Tavakolafshari ◽  
Rashin Ganjali ◽  
...  
Keyword(s):  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

Linkage of maturity-onset diabetes of the young to the glucokinase gene-evidence of genetic heterogeneity

1993 ◽  
Vol 21 (1) ◽  
pp. 24S-24S
Author(s):  
AT Hattersley ◽  
PJ Saker ◽  
P Patel ◽  
Y-MD Lo ◽  
R Page ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

Functional characterization of two novel splicing mutations of glucokinase gene associated with maturity-onset diabetes of the young type 2 (MODY2)

2014 ◽  
Vol 48 (2) ◽  
pp. 248-253 ◽  
Author(s):  
E. L. Igudin ◽  
P. V. Spirin ◽  
V. S. Prasolov ◽  
N. A. Zubkova ◽  
E. E. Petryaikina ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Splicing Mutations ◽  
Onset Diabetes

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

2018 ◽  
Vol 20 (1) ◽  
pp. 57-64 ◽  
Author(s):  
Stephanie R. Johnson ◽  
Jonathan J. Ellis ◽  
Paul J. Leo ◽  
Lisa K. Anderson ◽  
Uma Ganti ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Population Based ◽  
Gene Variants ◽  
Maturity Onset Diabetes ◽  
Childhood Diabetes ◽  
Onset Diabetes ◽  
Young Gene

Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY)

1998 ◽  
Vol 12 (2) ◽  
pp. 136-136 ◽  
Author(s):  
Barbara Guazzini ◽  
Davide Gaffi ◽  
Davide Mainieri ◽  
Giuseppe Multari ◽  
Renzo Cordera ◽  
...  
Keyword(s):  
Missense Mutations ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

scholarly journals Novel glucokinase mutation in a boy with maturity-onset diabetes of the young

2008 ◽  
Vol 136 (9-10) ◽  
pp. 542-544 ◽  
Author(s):  
Tatjana Milenkovic ◽  
Dragan Zdravkovic ◽  
Katarina Mitrovic
Keyword(s):  
Autosomal Dominant ◽  
Molecular Level ◽  
Dominant Mode ◽  
Maturity Onset Diabetes ◽  
Primary Defect ◽  
Glucokinase Gene ◽  
Onset Diabetes ◽  
Heterogenous Group ◽  
Glucokinase Mutation ◽  
Mode Of Inheritance

INTRODUCTION Maturity-onset diabetes of the young (MODY) is a heterogenous group of disorders characterized by an early onset of insulin-independent diabetes mellitus, an autosomal dominant mode of inheritance and a primary defect in beta-cell. There are six subtypes of MODY. MODY2 and MODY3 are the most frequent. CASE OUTLINE We present a nine-year-old boy with intermittent hyperglycaemia. According to family history, the diagnosis of MODY2 was suspected. Molecular analysis revealed novel missense mutation R250c in exon 7 of glucokinase gene. Mutation (c.748 C>T) is the result of substitution of aminoacid cysteine by arginine (p.Arg250Cys). This is the first pediatric patient with MODY2 in Serbia whose diagnosis is established at molecular level. CONCLUSION Molecular diagnosis of MODY has important consequences in terms of prognosis, therapy and family screening of the disorder. Investigation of other patients with MODY2 in our country is important to establish prevalence and nature of mutations in glucokinase gene.

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