Associated Papers
The role of SLC19A2 variants in the wide spectrum of non-autoimmune abnormalities of glucose homeostasis.
Marucci A et al.
Diabetologia, 2025
Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.
Rosenfeld E et al.
Journal of the Endocrine Society, 2024
A genomic data archive from the Network for Pancreatic Organ donors with Diabetes.
Perry DJ et al.
Scientific Data, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
35737141 (PubMed )
Supplement: 592_2022_1915_MOESM2_ESM.pdf
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene.
Güemes M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.
Maiorana A et al.
Clinical Endocrinology, 2014
Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.
Liu L et al.
Diabetologia, 2013
Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.
Lin YW et al.
Plos One, 2013
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.
Banerjee I et al.
European Journal of Endocrinology, 2011
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
Loechner KJ et al.
Diabetes, 2011
The role of the Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma in diabetes risk.
Tönjes A et al.
Current Opinion in Clinical Nutrition and Metabolic Care, 2007
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