Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation
AJ Chakera, AM Steele, AL Gloyn, MH Shepherd… - Diabetes …, 2015 - Am Diabetes Assoc
Glucokinase–maturity-onset diabetes of the young (GCK-MODY), also known as MODY2, is
caused by heterozygous inactivating mutations in the GCK gene. GCK gene mutations are …
caused by heterozygous inactivating mutations in the GCK gene. GCK gene mutations are …
Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
KK Osbak, K Colclough, C Saint‐Martin… - Human …, 2009 - Wiley Online Library
Glucokinase is a key regulatory enzyme in the pancreatic beta‐cell. It plays a crucial role in
the regulation of insulin secretion and has been termed the glucose sensor in pancreatic …
the regulation of insulin secretion and has been termed the glucose sensor in pancreatic …
Abnormalities in alternative splicing in diabetes: therapeutic targets
Diabetes mellitus (DM) is a non-communicable, metabolic disorder that affects 416 million
individuals worldwide. Type 2 diabetes contributes to a vast 85–90% of the diabetes …
individuals worldwide. Type 2 diabetes contributes to a vast 85–90% of the diabetes …
Targeted sequencing identifies novel variants in common and rare MODY genes
LS de Santana, LA Caetano… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes
with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently …
with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently …
Glucokinase diabetes in 103 families from a country‐based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations
S Pruhova, P Dusatkova, Z Sumnik… - Pediatric …, 2010 - Wiley Online Library
Pruhova S, Dusatkova P, Sumnik Z, Kolouskova S, Pedersen O, Hansen T, Cinek O, Lebl J.
Glucokinase diabetes in 103 families from a country‐based study in the Czech Republic …
Glucokinase diabetes in 103 families from a country‐based study in the Czech Republic …
[PDF][PDF] Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
A Anık, G Çatlı, A Abacı, E Sarı, E Yeşilkaya… - Journal of Pediatric …, 2015 - degruyter.com
Aim: To perform molecular analysis of pediatric maturity onset diabetes of the young (MODY)
patients by next-generation sequencing, which enables simultaneous analysis of multiple …
patients by next-generation sequencing, which enables simultaneous analysis of multiple …
Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)
Background Maturity-onset diabetes of the young (MODY) is a common form of monogenic
diabetes. Fourteen genes have been identified, each leading to cause a different type of …
diabetes. Fourteen genes have been identified, each leading to cause a different type of …
GCK gene mutations are a common cause of childhood‐onset MODY (maturity‐onset diabetes of the young) in Turkey
Objective Inactivating heterozygous mutations in the GCK gene are a common cause of
MODY and result in mild fasting hyperglycaemia, which does not require treatment. We …
MODY and result in mild fasting hyperglycaemia, which does not require treatment. We …
Regulation of endocrine cell alternative splicing revealed by single-cell RNA sequencing in type 2 diabetes pathogenesis
The prevalent RNA alternative splicing (AS) contributes to molecular diversity, which has
been demonstrated in cellular function regulation and disease pathogenesis. However, the …
been demonstrated in cellular function regulation and disease pathogenesis. However, the …
Novel mutations associated with combined pituitary hormone deficiency
CJ Romero, E Pine-Twaddell… - Journal of molecular …, 2011 - jme.bioscientifica.com
The pituitary gland produces hormones that play important roles in both the development
and the homeostasis of the body. A deficiency of two or several of these pituitary hormones …
and the homeostasis of the body. A deficiency of two or several of these pituitary hormones …