Cited by 476Pancreatic function and diabetesDiabetes and associated disordersGenetic Associations and Epidemiology

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Diabetes mellitus and genetically programmed defects in β-cell function

Bell, Graeme I., Polonsky, Kenneth S.·2001·Nature

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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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Polonsky, K. S. & O'Meara, N. M. in Endocrinology 4th edn (eds DeGroot, L. J. & Jameson, L. J.) 697–711 (Saunders, Philadelphia, 2001).

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Authors: Bell, G. I., & Polonsky, K. S.
Affiliations: Howard Hughes Medical Institute (US)
Washington University in St. Louis (US)
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2001-12
Volume: 414
Issue: 6865
Pages: 788-791
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/414788a
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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Diabetes mellitus and genetically programmed defects in β-cell function

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