Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › gnomAD
The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.
Langer S et al.
Diabetologia, 2021
34532767 (PubMed )
Supplement: 125_2021_5553_MOESM1_ESM.pdf
Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg).
Gilis-Januszewska A et al.
Genes, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature.
Ping F et al.
Journal of Diabetes Investigation, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
Martínez R et al.
Clinical Endocrinology, 2017
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R et al.
European Journal of Endocrinology, 2016
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
Mutational analysis of allosteric activation and inhibition of glucokinase.
Zelent B et al.
The Biochemical Journal, 2011
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Barbetti F et al.
Molecular Endocrinology (baltimore, Md.), 2009
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