Concepedia

Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult–Onset Nonautoimmune Diabetes

Agata Juszczak, Tamara Pavić, Frano Vučković, Amanda J. Bennett, Neha Shah, Edita Pape Medvidović, Christopher J. Groves, Mario Šekerija, Kyla Chandler, Carla Burrows,

Diabetes Care · 2018 · 51 citations · 39 references

DOI

Abstract

Half of rare <i>HNF1A</i> sequence variants do not cause MODY. <i>N</i>-glycan profile and hs-CRP could both be used as tools, alone or as adjuncts to existing pathways, for identifying individuals at high risk of carrying a damaging <i>HNF1A</i> allele.

References

39

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.1K citations · Full text

, , +20

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text

, , +11

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

, , +5

Essentials of glycobiology

G. Ya. Wiederschain · Biochemistry (Moscow) · 2009 · 4.1K citations · Full text

, , +3

Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)

Kazuya Yamagata, Naohisa Oda, Pamela J. Kaisaki et al. · Nature · 1996 · 1.6K citations · Full text

, , +6