Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Identification of structural motifs critical for human G6PC2 function informed by sequence analysis and an AlphaFold2-predicted model.
Hawes EM et al.
Bioscience Reports, 2024
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.
DiCorpo D et al.
Communications Biology, 2022
35902682 (PubMed )
Supplement: 42003_2022_3702_MOESM1_ESM.pdf
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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Whole exome sequencing reveals novel candidate gene variants for MODY.
Yalçın Çapan Ö et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
32645390 (PubMed )
Supplement: 1-s2.0-S0009898120303211-mmc1.xlsx › Sayfa1
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
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
Recent advances in understanding the genetic architecture of type 2 diabetes.
Mohlke KL et al.
Human Molecular Genetics, 2015
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES
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
Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction.
Bonnefond A et al.
Diabetologia, 2009
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