2.4 Whole exome sequencing of growth restricted offspring identifies gene variants implicated in maturity onset diabetes of the young

2014 ◽  
Vol 99 (Suppl 1) ◽  
pp. A2.1-A2 ◽  
Author(s):  
SL Hillman ◽  
MC Smart ◽  
C Bacchelli ◽  
L Ocaka ◽  
DJ Williams
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Variants ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Whole Exome

Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing

2014 ◽  
Vol 44 (11) ◽  
pp. 1137-1140 ◽  
Author(s):  
J. M. Wentworth ◽  
V. Lukic ◽  
M. Bahlo ◽  
M. Finlay ◽  
C. Nguyen ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Whole Exome

scholarly journals Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10

2017 ◽  
Vol 9 (5) ◽  
pp. 376-383 ◽  
Author(s):  
Jing Yan ◽  
Feng Jiang ◽  
Rong Zhang ◽  
Tongfu Xu ◽  
Zhou Zhou ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Whole Exome

scholarly journals Identification of Maturity-Onset Diabetes of the Young Caused by Mutation in FOXM1 via Whole-Exome Sequencing in Northern China

2021 ◽  
Vol 11 ◽  
Author(s):  
Liang Zhong ◽  
Zengyi Zhao ◽  
Qingshan Hu ◽  
Yang Li ◽  
Weili Zhao ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Critical Role ◽  
Clinical Manifestations ◽  
Northern China ◽  
Diabetic Patients ◽  
Maturity Onset Diabetes ◽  
Genetic Characteristics ◽  
Onset Diabetes ◽  
Whole Exome

Diabetes mellitus is a highly heterogeneous disorder encompassing different types with particular clinical manifestations, while maturity-onset diabetes of the young (MODY) is an early-onset monogenenic diabetes. Most genetic predisposition of MODY has been identified in European and American populations. A large number of Chinese individuals are misdiagnosed due to defects of unknown genes. In this study, we analyzed the genetic and clinical characteristics of the Northern China. A total of 200 diabetic patients, including 10 suspected MODY subjects, were enrolled, and the mutational analysis of monogenic genes was performed by whole-exome sequencing and confirmed by familial information and Sanger sequencing. We found that clinical features and genetic characteristics have varied widely between MODY and other diabetic subjects in Northern China. FOXM1, a key molecule in the proliferation of pancreatic β-cells, has a rare mutation rs535471991, which leads to instability within the phosphorylated domain that impairs its function. Our findings indicate that FOXM1 may play a critical role in MODY, which could reduce the misdiagnose rate and provide promising therapy for MODY patients.

1550-P: Whole-Exome Sequencing in Children with Suspected Maturity-Onset Diabetes of the Young (MODY)

Diabetes ◽  
2020 ◽  
Vol 69 (Supplement 1) ◽  
pp. 1550-P
Author(s):  
MUSTAFA TOSUR ◽  
ANIKO SABO ◽  
MICHAEL M. KHAYAT ◽  
SHALINI N. JHANGIANI ◽  
AHMAD K. REFAEY ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Whole Exome

Whole exome sequencing identifies the novel putative gene variants related with type 2 diabetes in Mizo population, northeast India

Gene ◽  
2021 ◽  
Vol 769 ◽  
pp. 145229
Author(s):  
Freda Lalrohlui ◽  
John Zohmingthanga ◽  
Vanlal hruaii ◽  
Andrew Vanlallawma ◽  
Nachimuthu Senthil Kumar
Keyword(s):  
Type 2 Diabetes ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Northeast India ◽  
Gene Variants ◽  
The Novel ◽  
Putative Gene ◽  
Whole Exome
Sign in / Sign up

Export Citation Format

Share Document