Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene-Reference-Cited by-同舟云学术

Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

Published:2012-06-11 Issue:6 Volume:7 Page:e37423
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Bonnefond Amélie,Philippe Julien,Durand Emmanuelle,Dechaume Aurélie,Huyvaert Marlène,Montagne Louise,Marre Michel,Balkau Beverley,Fajardy Isabelle,Vambergue Anne,Vatin Vincent,Delplanque Jérôme,Le Guilcher David,De Graeve Franck,Lecoeur Cécile,Sand Olivier,Vaxillaire Martine,Froguel Philippe

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference31 articles.

1. The emerging genetics of type 2 diabetes.;A Bonnefond;Trends Mol Med,2010

2. Heterozygous ABCC8 mutations are a cause of MODY.;P Bowman;Diabetologia,2012

3. MODY: history, genetics, pathophysiology, and clinical decision making.;SS Fajans;Diabetes Care,2011

4. Genetic basis of maturity-onset diabetes of the young.;M Vaxillaire,2006

5. Exome sequencing as a tool for Mendelian disease gene discovery.;MJ Bamshad;Nat Rev Genet,2011

Cited by 179 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic features, prevalence of KCNJ11‐MODY in Chinese patients with early‐onset diabetes and a literature review;Clinical Endocrinology;2024-08-27

2. Monogenic Diabetes: A Comprehensive Overview and Therapeutic Management of Subtypes of Mody;Endocrine Research;2024-08-06

3. MODY diabetes as an orphan disease: literature review;Infusion & Chemotherapy;2024-06-24

4. Clinical and functional characterization of a novel KCNJ11 (c.101G > A, p.R34H) mutation associated with maturity-onset diabetes mellitus of the young type 13;Endocrine;2024-05-18

5. The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults;eLife;2024-05-03