Insulin receptor substrate-1 gene mutations in NIDDM; implications for the study of polygenic disease
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A common IRS-1 gene mutation (Gly-972-Arg) has been associated with type 2 diabetes, insulin resistance, and obesity, but its physiologic significance remains to be established.
“A common mutation in the IRS-1 gene (Gly-972-Arg) has been associated with type 2 diabetes, insulin resistance, and obesity, but the physiologic significance of this mutation remains to be established [170].”
From Pathogenesis of insulin resistance in skeletal muscle (2010) · cites this paper as [170]
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- Authors
- Hitman, G. A., Hawrami, K., McCarthy, M. I., Viswanathan, M., Snehalatha, C., Ramachandran, A., Tuomilehto, J., Tuomilehto-Wolf, E., Nissinen, A., & Pedersen, O.
- Affiliations
- Royal London Hospital (GB)
- Steno Diabetes Center Copenhagen (DK)
- Venue
- Diabetologia
- Published
- 1995-04
- Volume
- 38
- Issue
- 4
- Pages
- 481-486
- ISSN
- 0012-186X (ISSN-L)
- 1432-0428
- OpenAlex
- W2061866413
- Cited by
- 124
- References
- 35
- Citations by year
- 2021: 1 · 2019: 2 · 2018: 3 · 2016: 1 · 2015: 4 · 2014: 5 · 2013: 2 · 2012: 5
- FWCI
- 3.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Diabetologia (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Diabetesforeningen
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- IRS-1, type 2 diabetes, missense mutations, genetic susceptibility, polygenic disease, South Indian population, Finnish population, ethnic differences
- MeSH terms
- Adult, Aged, Alanine, Arginine, Base Sequence, Codon, Diabetes Mellitus, Type 2, Female, Finland, Genotype, Glycine, Humans, India, Male, Middle Aged, Molecular Sequence Data, Pedigree, Phosphoproteins, Proline, Reference Values, Risk Factors, Restriction Mapping, Deoxyribonucleases, Type II Site-Specific, Case-Control Studies, Polymerase Chain Reaction, Point Mutation, DNA Primers, Insulin Receptor Substrate Proteins
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.
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