Associated Papers
Multiple promoter and enhancer differences likely contribute to augmented G6PC2 expression in human versus mouse pancreatic islet alpha cells.
Martin CC et al.
Journal of Molecular Endocrinology, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.
Choi J et al.
Science Advances, 2023
37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose.
Overway EM et al.
The Journal of Biological Chemistry, 2022
The trans-ancestral genomic architecture of glycemic traits.
Chen J et al.
Nature Genetics, 2021
34059833 (PubMed )
Supplement: EMS120610-supplement-Supplementary_Tables.xlsx › S14-88signalsPPAg0.9
Glucose metabolism-related gene polymorphisms as the risk predictors of type 2 diabetes.
Li C et al.
Diabetology & Metabolic Syndrome, 2020
Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.
Spracklen CN et al.
Plos Genetics, 2018
Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection.
Al-Daghri NM et al.
Bmc Evolutionary Biology, 2017
28173748 (PubMed )
Supplement: 12862_2017_897_MOESM1_ESM.pdf
Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.
Boortz KA et al.
Plos One, 2016
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Wessel J et al.
Nature Communications, 2015
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Mahajan A et al.
Plos Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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