The DOI matches its Crossref record; 300 of the 300 references it cites were found in a registry or an index.
Hyperinsulinism in Infancy: From Basic Science to Clinical Disease
Abstract
Dunne, Mark J., Karen E. Cosgrove, Ruth M. Shepherd, Albert Aynsley-Green, and Keith J. Lindley. Hyperinsulinism in Infancy: From Basic Science to Clinical Disease. Physiol Rev 84: 239–275, 2004; 10.1152/physrev.00022.2003.—Ion channelopathies have now been described in many well-characterized cell types including neurons, myocytes, epithelial cells, and endocrine cells. However, in only a few cases has the relationship between altered ion channel function, cell biology, and clinical disease been defined. Hyperinsulinism in infancy (HI) is a rare, potentially lethal condition of the newborn and early childhood. The causes of HI are varied and numerous, but in almost all cases they share a common target protein, the ATP-sensitive K+channel. From gene defects in ion channel subunits to defects in β-cell metabolism and anaplerosis, this review describes the relationship between pathogenesis and clinical medicine. Until recently, HI was generally considered an orphan disease, but as parallel defects in ion channels, enzymes, and metabolic pathways also give rise to diabetes and impaired insulin release, the HI paradigm has wider implications for more common disorders of the endocrine pancreas and the molecular physiology of ion transport.
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Cites
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Cited by
Inwardly Rectifying Potassium Channels: Their Structure, Function, and Physiological Roles
Hibino, H., Inanobe, A., Furutani, K., Murakami, S., Findlay, I., & Kurachi, Y. (2010) · Physiological Reviews · doi:10.1152/physrev.00021.2009 · Cited by 1,539
ATP-sensitive potassium channelopathies: focus on insulin secretion
Ashcroft, F. M. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25495 · Cited by 623
Activating Mutations in Kir6.2 and Neonatal Diabetes
Hattersley, A. T., & Ashcroft, F. M. (2005) · Diabetes · doi:10.2337/diabetes.54.9.2503 · Cited by 414
Congenital hyperinsulinism: current trends in diagnosis and therapy
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Zhao, W.-Q., & Townsend, M. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2008.10.014 · Cited by 291
Metadata
- Authors
- DUNNE, M. J., COSGROVE, K. E., SHEPHERD, R. M., AYNSLEY-GREEN, A., & LINDLEY, K. J.
- Venue
- Physiological Reviews
- Publisher
- American Physiological Society
- Published
- 2004-01
- Volume
- 84
- Issue
- 1
- Pages
- 239-275
- ISSN
- 0031-9333 (ISSN-L)
- 1522-1210
- OpenAlex
- W2165848705
- Cited by
- 294
- References
- 300
- FWCI
- 4.54
- Type
- journal article
- Language
- en
- Open access
- closed
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- DUNNE, M. J., COSGROVE, K. E., SHEPHERD, R. M., AYNSLEY-GREEN, A., & LINDLEY, K. J. (2004). Hyperinsulinism in Infancy: From Basic Science to Clinical Disease. Physiological Reviews. https://doi.org/10.1152/physrev.00022.2003
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