Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Genetic Testing in Biopsy-Confirmed Kidney Disease.
Schmidt IM et al.
Kidney Medicine, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.
Marassi M et al.
Current Diabetes Reports, 2024
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.
Timmers M et al.
Diabetes/metabolism Research and Reviews, 2021
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Bowman P et al.
Diabetes Care, 2021
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M et al.
Journal of Diabetes Research, 2021
Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing.
Matsutani N et al.
Journal of Diabetes Investigation, 2020
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.
Martin GM et al.
Molecular and Cellular Endocrinology, 2020
Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.
Jain V et al.
Indian Pediatrics, 2017
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
Martin GM et al.
The Journal of Biological Chemistry, 2016
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
Demirbilek H et al.
European Journal of Endocrinology, 2014
Neonatal diabetes caused by activating mutations in the sulphonylurea receptor.
Proks P
Diabetes & Metabolism Journal, 2013
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
Permanent neonatal diabetes caused by a novel mutation.
Jain V et al.
Indian Pediatrics, 2012
Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.
Kumaran A et al.
Hormone Research in Paediatrics, 2010
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
Greer RM et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0