Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation—Case reports and review of the literature
B He, X Li, Z Zhou - Journal of Diabetes, 2021 - Wiley Online Library
The KCNJ11 gene encodes the Kir6. 2 subunit of the adenosine triphosphate‐sensitive
potassium (KATP) channel, which plays a key role in insulin secretion. Monogenic diseases …
potassium (KATP) channel, which plays a key role in insulin secretion. Monogenic diseases …
[HTML][HTML] Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation
B Sanchez-Lechuga, M Saqlain, N Ng… - BMC Medical …, 2020 - Springer
Background Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most
cases present with neonatal diabetes mellitus. Case presentation The case was a female …
cases present with neonatal diabetes mellitus. Case presentation The case was a female …
Congenital diabetes: comprehensive genetic testing allows for improved diagnosis and treatment of diabetes and other associated features
LR Letourneau, SAW Greeley - Current diabetes reports, 2018 - Springer
Abstract Purpose of Review The goal of this review is to provide updates on congenital
(neonatal) diabetes from 2011 to present, with an emphasis on publications from 2015 to …
(neonatal) diabetes from 2011 to present, with an emphasis on publications from 2015 to …
[HTML][HTML] 一例GATA6 基因变异引起儿童特殊类型糖尿病的临床特点及基因变异分析
应令雯， 丁宇， 李娟， 张倩文， 常国营… - Journal of Zhejiang …, 2023 - ncbi.nlm.nih.gov
一例男性患儿， 2 岁， 2018 年11 月30 日因“多饮、 多食、 多尿伴血糖升高两周余”
就诊于上海交通大学医学院附属上海儿童医学中心。 患儿表现为匀称性矮小［ 身高81 cm（－ 2.2 …
就诊于上海交通大学医学院附属上海儿童医学中心。 患儿表现为匀称性矮小［ 身高81 cm（－ 2.2 …
[HTML][HTML] Modeling maturity onset diabetes of the young in pluripotent stem cells: challenges and achievements
C Braverman-Gross, N Benvenisty - Frontiers in Endocrinology, 2021 - frontiersin.org
Maturity onset diabetes of the young (MODY), is a group of monogenic diabetes disorders.
Rodent models for MODY do not fully recapitulate the human phenotypes, calling for models …
Rodent models for MODY do not fully recapitulate the human phenotypes, calling for models …
[HTML][HTML] Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits
X Yue, Y Luo, J Wang, D Huang - Molecular Biotechnology, 2024 - Springer
Monogenic diabetes caused by GATA6 mutations were almost described as neonatal
diabetes, and the phenotypic spectrum has expanded since then. Our study underscores the …
diabetes, and the phenotypic spectrum has expanded since then. Our study underscores the …
Long-term metabolic and Socioeducational outcomes of transient neonatal diabetes: a longitudinal and cross-sectional study
F Le Bourgeois, J Beltrand, B Baz, JB Julla… - Diabetes …, 2020 - Am Diabetes Assoc
OBJECTIVE Transient neonatal diabetes mellitus (TNDM) occurs during the 1st year of life
and remits during childhood. We investigated glucose metabolism and socioeducational …
and remits during childhood. We investigated glucose metabolism and socioeducational …
Clinical traits and molecular genetics analysis of monogenic diabetes caused by mutations in the GATA6
X Yue, D Huang - 2022 - researchsquare.com
Aim: This study aims to analyze the clinical and genetic features of monogenic diabetes with
GATA6 mutations in order to improve clinicians' understanding of the disease. Method: We …
GATA6 mutations in order to improve clinicians' understanding of the disease. Method: We …
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation
K Colclough - 2020 - rde.dspace-express.com
Background: Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most
cases present with neonatal diabetes mellitus. Case presentation: The case was a female …
cases present with neonatal diabetes mellitus. Case presentation: The case was a female …