The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
Diabetes mellitus and genetically programmed defects in β-cell function
Abstract
The pathways that control insulin secretion and regulate pancreatic beta-cell mass are crucial in the development of diabetes mellitus. Maturity-onset diabetes of the young comprises a number of single-gene disorders affecting pancreatic beta-cell function, and the consequences of mutations in these genes are so serious that diabetes develops in childhood or adolescence. A genetic basis for the more common form of type 2 diabetes, which affects 10-20% of adults in many developed countries, is less clear cut. It is also characterized by abnormal beta-cell function, but other tissues are involved as well. However, in both forms identification of causative and susceptibility genes are providing new insight into the control of insulin action and secretion, as well as suggesting new treatments for diabetes.
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“Mendelian subtypes of common diseases [such as breast cancer (15), hypertension (16), and diabetes (17)] were elucidated, but mutations in these genes explained few cases in the population.”
From Genetic Mapping in Human Disease (2008) · cites this paper as [17]
Citations
Cites
Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus
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The National Center for Biotechnology Information
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Insulin-promoter-factor 1 is required for pancreas development in mice
Jonsson, J., Carlsson, L., Edlund, T., & Edlund, H. (1994) · Nature · doi:10.1038/371606a0 · Cited by 1,879
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
Altshuler, D., Hirschhorn, J. N., Klannemark, M., Lindgren, C. M., Vohl, M.-C., Nemesh, J., Lane, C. R., Schaffner, S. F., Bolk, S., Brewer, C., et al. (2000) · Nature Genetics · doi:10.1038/79216 · Cited by 1,766
Type 1 diabetes: new perspectives on disease pathogenesis and treatment
Atkinson, M. A., & Eisenbarth, G. S. (2001) · The Lancet · doi:10.1016/s0140-6736(01)05415-0 · Cited by 1,491
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
Horikawa, Y., Oda, N., Cox, N. J., Li, X., Orho‐Melander, M., Hara, M., Hinokio, Y., Lindner, T. H., Mashima, H., Schwarz, P. E. H., et al. (2000) · Nature Genetics · doi:10.1038/79876 · Cited by 1,467
Self-citationBarroso, I., Gurnell, M., Crowley, V. E. F., Agostini, M., Schwabe, J. W., Soos, M. A., Maslen, G. L., Williams, T. D. M., Lewis, H., Schafer, A. J., et al. (1999) · Nature · doi:10.1038/47254 · Cited by 1,368
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Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
Fajans, S. S., Bell, G. I., & Polonsky, K. S. (2001) · New England Journal of Medicine · doi:10.1056/nejmra002168 · Cited by 1,123
Self-citationStoffers, D. A., Zinkin, N. T., Stanojevic, V., Clarke, W. L., & Habener, J. F. (1997) · Nature Genetics · doi:10.1038/ng0197-106 · Cited by 1,103
Research works printed but not linked: 1
- Polonsky, K. S. & O'Meara, N. M. in Endocrinology 4th edn (eds DeGroot, L. J. & Jameson, L. J.) 697–711 (Saunders, Philadelphia, 2001).
Cited by
Sorted by citations
Genetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452
Pathogenesis of type 2 diabetes mellitus
DeFronzo, R. A. (2004) · Medical Clinics of North America · doi:10.1016/j.mcna.2004.04.013 · Cited by 1,342
Control of Pancreas and Liver Gene Expression by HNF Transcription Factors
Odom, D. T., Zizlsperger, N., Gordon, D. B., Bell, G. W., Rinaldi, N. J., Murray, H. L., Volkert, T. L., Schreiber, J., Rolfe, A., Gifford, D. K., et al. (2004) · Science · doi:10.1126/science.1089769 · Cited by 1,348
Self-citationType 2 Diabetes-a Matter of ß-Cell Life and Death?
Rhodes, C. J. (2005) · Science · doi:10.1126/science.1104345 · Cited by 903
Insulin granule dynamics in pancreatic beta cells
Rorsman, P., & Renstr�m, E. (2003) · Diabetologia · doi:10.1007/s00125-003-1153-1 · Cited by 844
Metadata
- Authors
- Bell, G. I., & Polonsky, K. S.
- Affiliations
- Howard Hughes Medical Institute (US)
- Washington University in St. Louis (US)
- Venue
- Nature
- Published
- 2001-12
- Volume
- 414
- Issue
- 6865
- Pages
- 788-791
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2000511325
- Cited by
- 475
- References
- 57
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 11 · 2021: 12 · 2020: 12 · 2019: 9 · 2018: 17 · 2017: 13 · 2016: 16 · 2015: 19 · 2014: 26 · 2013: 16 · 2012: 25
- FWCI
- 5.37
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- diabetes mellitus, beta-cell function, insulin secretion, beta-cell mass, maturity-onset diabetes of the young, monogenic disorders, type 2 diabetes, susceptibility genes, causal genes, insulin action, diabetes treatment
- MeSH terms
- Insulin Secretion, Animals, Diabetes Mellitus, Diabetes Mellitus, Type 2, Humans, Insulin, Islets of Langerhans
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