The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
Open accessAbstract
Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the regulation of insulin secretion and has been termed the glucose sensor in pancreatic beta-cells. Given its central role in the regulation of insulin release it is understandable that mutations in the gene encoding glucokinase (GCK) can cause both hyper- and hypoglycemia. Heterozygous inactivating mutations in GCK cause maturity-onset diabetes of the young (MODY) subtype glucokinase (GCK), characterized by mild fasting hyperglycemia, which is present at birth but often only detected later in life during screening for other purposes. Homozygous inactivating GCK mutations result in a more severe phenotype presenting at birth as permanent neonatal diabetes mellitus (PNDM). A growing number of heterozygous activating GCK mutations that cause hypoglycemia have also been reported. A total of 620 mutations in the GCK gene have been described in a total of 1,441 families. There are no common mutations, and the mutations are distributed throughout the gene. The majority of activating mutations cluster in a discrete region of the protein termed the allosteric activator site. The identification of a GCK mutation in patients with both hyper- and hypoglycemia has implications for the clinical course and clinical management of their disorder.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Gloyn, A. L., Pearson, E. R., Antcliff, J. F., Proks, P., Bruining, G. J., Slingerland, A. S., Howard, N., Srinivasan, S., Silva, J. M. C. L., Molnes, J., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa032922 · Cited by 1,137
Self-citationSwitching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
Pearson, E. R., Flechtner, I., Njølstad, P. R., Malecki, M. T., Flanagan, S. E., Larkin, B., Ashcroft, F. M., Klimes, I., Codner, E., Iotova, V., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa061759 · Cited by 988
Self-citationBAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis
Danial, N. N., Gramm, C. F., Scorrano, L., Zhang, C.-Y., Krauss, S., Ranger, A. M., Robert Datta, S., Greenberg, M. E., Licklider, L. J., Lowell, B. B., et al. (2003) · Nature · doi:10.1038/nature01825 · Cited by 705
Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus
Babenko, A. P., Polak, M., Cavé, H., Busiah, K., Czernichow, P., Scharfmann, R., Bryan, J., Aguilar-Bryan, L., Vaxillaire, M., & Froguel, P. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa055068 · Cited by 655
Dual role of proapoptotic BAD in insulin secretion and beta cell survival
Danial, N. N., Walensky, L. D., Zhang, C.-Y., Choi, C. S., Fisher, J. K., Molina, A. J. A., Datta, S. R., Pitter, K. L., Bird, G. H., Wikstrom, J. D., et al. (2008) · Nature Medicine · doi:10.1038/nm1717 · Cited by 307
Gloyn, A. L., Odili, S., Zelent, D., Buettger, C., Castleden, H. A. J., Steele, A. M., Stride, A., Shiota, C., Magnuson, M. A., Lorini, R., et al. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m413146200 · Cited by 108
Self-citation
Cited by
Diabetes Mellitus and the β Cell: The Last Ten Years
Ashcroft, F. M., & Rorsman, P. (2012) · Cell · doi:10.1016/j.cell.2012.02.010 · Cited by 902
Chakera, A. J., Steele, A. M., Gloyn, A. L., Shepherd, M. H., Shields, B., Ellard, S., & Hattersley, A. T. (2015) · Diabetes Care · doi:10.2337/dc14-2769 · Cited by 289
Self-citationWright, C. F., West, B., Tuke, M., Jones, S. E., Patel, K., Laver, T. W., Beaumont, R. N., Tyrrell, J., Wood, A. R., Frayling, T. M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.12.015 · Cited by 212
Maturity-onset diabetes of the young (MODY): an update
Anık, A., Çatlı, G., Abacı, A., & Böber, E. (2015) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2014-0384 · Cited by 198
Zhu, D., Gan, S., Liu, Y., Ma, J., Dong, X., Song, W., Zeng, J., Wang, G., Zhao, W., Zhang, Q., et al. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(18)30105-0 · Cited by 96
Metadata
- Authors
- Osbak, K. K., Colclough, K., Saint-Martin, C., Beer, N. L., Bellanné-Chantelot, C., Ellard, S., & Gloyn, A. L.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2009-11
- Volume
- 30
- Issue
- 11
- Pages
- 1512-1526
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2050455735
- Cited by
- 485
- References
- 6
- FWCI
- 23.68
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. https://app.cochat.ai/papers/10.1002/humu.21110
- The paper
- Osbak, K. K., Colclough, K., Saint-Martin, C., Beer, N. L., Bellanné-Chantelot, C., Ellard, S., & Gloyn, A. L. (2009). Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Human Mutation. https://doi.org/10.1002/humu.21110
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
