scholarly journals New insights into KATP channel gene mutations and neonatal diabetes mellitus

2020 ◽  
Author(s):  
Pipatpolkai T ◽  
Usher S ◽  
Stansfeld PJ ◽  
Ashcroft FM
Keyword(s):  
Diabetes Mellitus ◽  
Katp Channel ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Channel Gene

scholarly journals New insights into KATP channel gene mutations and neonatal diabetes mellitus

2020 ◽  
Vol 16 (7) ◽  
pp. 378-393 ◽  
Author(s):  
Tanadet Pipatpolkai ◽  
Samuel Usher ◽  
Phillip J. Stansfeld ◽  
Frances M. Ashcroft
Keyword(s):  
Diabetes Mellitus ◽  
Katp Channel ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Channel Gene

Detection of KCNJ11 Gene Mutations in a Family with Neonatal Diabetes Mellitus

2012 ◽  
Vol 16 (2) ◽  
pp. 109-114 ◽  
Author(s):  
Farzaneh Abbasi ◽  
Sadaf Saba ◽  
Azadeh Ebrahim-Habibi ◽  
Forough A. Sayahpour ◽  
Parvin Amiri ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Kcnj11 Gene

scholarly journals Metabolism-Excitation Coupling in a Model of KATP Channel Neonatal Diabetes Mellitus

2010 ◽  
Vol 98 (3) ◽  
pp. 578a
Author(s):  
Richard K.P. Benninger ◽  
Maria S. Remedi ◽  
Alessandro Ustione ◽  
W Steven Head ◽  
Colin G. Nichols ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Katp Channel ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus

scholarly journals Defects in beta cell Ca2+ signalling, glucose metabolism and insulin secretion in a murine model of KATP channel-induced neonatal diabetes mellitus

Diabetologia ◽  
2011 ◽  
Vol 54 (5) ◽  
pp. 1087-1097 ◽  
Author(s):  
R. K. P. Benninger ◽  
M. S. Remedi ◽  
W. S. Head ◽  
A. Ustione ◽  
D. W. Piston ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Secretion ◽  
Glucose Metabolism ◽  
Beta Cell ◽  
Murine Model ◽  
Katp Channel ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus

Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population

2021 ◽  
pp. 108022
Author(s):  
Sundaramoorthy Gopi ◽  
Palanisamy Gowri ◽  
Jayant Kumar Panda ◽  
Santhosh Olety Sathyanarayana ◽  
Sunil Gupta ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Indian Population ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Insulin Gene ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus

Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

2011 ◽  
Vol 57 (2) ◽  
pp. 3-8
Author(s):  
I I Dedov ◽  
Iu V Tikhonovich ◽  
Elena E Petriaikina ◽  
I G Rybkina ◽  
I É Volkov ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Pancreatic Beta Cells ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Molecular Genetic Analysis ◽  
Neonatal Diabetes Mellitus ◽  
Molecular Genetic Study ◽  
Abcc8 Gene ◽  
Sound Therapy

Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.

scholarly journals Genetic mutations associated with neonatal diabetes mellitus in Omani patients

2018 ◽  
Vol 31 (2) ◽  
pp. 195-204 ◽  
Author(s):  
Aisha Al Senani ◽  
Nishath Hamza ◽  
Hanan Al Azkawi ◽  
Manal Al Kharusi ◽  
Nashat Al Sukaiti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Targeted Next Generation Sequencing ◽  
Future Strategy ◽  
Next Generation Sequencing Ngs ◽  
High Degree ◽  
First Time

Abstract Background: Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM. Methods: In this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman. We collected a cohort of 24 NDM patients, with and without genetic diagnosis, referred to our center from 2007 to 2015. All patients without a genetic diagnosis were tested for mutations in 23 NDM-associated genes using a custom-targeted next-generation sequencing (NGS) panel and methylation analysis of the 6q24 locus. Results: A genetic abnormality was detected in 15/24 (62.5%) of our Omani NDM patients. We report the detection of 6q24 methylation abnormalities and KCNJ11 mutations for the first time in Omani NDM patients. Unlike Western populations where NDM is predominantly due to mutations in the KCNJ11, ABCC8 and INS genes, NDM due to homozygous GCK gene mutations were most prevalent in Oman, having been observed in seven out of 15 NDM patients in whom we established the genetic etiology. This reflects the high degree of consanguinity which makes recessive conditions more likely. Conclusions: The results of this study are likely to impact any future strategy to introduce genetic testing for NDM disorders within the national healthcare system in Oman.

Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan

2016 ◽  
Vol 18 (7) ◽  
pp. 532-539 ◽  
Author(s):  
Yukiko Hashimoto ◽  
Sumito Dateki ◽  
Masakazu Hirose ◽  
Kenichi Satomura ◽  
Hirotake Sawada ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Clinical Features ◽  
Katp Channel ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus

25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 25-OR
Author(s):  
SHAHANA SENGUPTA ◽  
LORI L. BONNYCASTLE ◽  
BENOIT HASTOY ◽  
ANTJE GROTZ ◽  
MAHESH M. UMAPATHYSIVAM ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Susceptibility Gene ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Diabetes Susceptibility ◽  
Diabetes Susceptibility Gene ◽  
Causal Allele

scholarly journals Correction to: Neonatal Diabetes Mellitus: Novel Mutations

2021 ◽  
Author(s):  
Sapna Nayak ◽  
Aditya Narayan Sarangi ◽  
Saroj Kumar Sahoo ◽  
Pragya Mangla ◽  
Manoranjan Tripathy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Novel Mutations
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