Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

By R. Savkur, A. Philips, T. Cooper. Nature Genetics, 2001

810 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/14d7d1f0e98fda3b857fe5edb92bc39c37c9b8b2

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In Molecular Biology

1. N. Faustino
2. H. Kwon
3. T. Cooper
4. J. Pessin

Citations in the corpus

• Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease. (2009, background): “In both MD1 and MD2 patients, IR abnormalities appear very early and precede the development of dystrophic changes (210, 213).”
• Adipokines Mediate Inflammation and Insulin Resistance (2013, background): “In addition, mutations of DM1 kinase gene causes defective alternative splicing of INSR (Savkur et al., 2001), and mutations of high-mobility group A1 (HMGA1) gene suppress the expression of INSR resulting in insulin resistance (Chiefari et al.”
• Pre-mRNA splicing and human disease. (2003, background): “Smn−/− mice die at the blastocyst stage (Schrank et al. 1997), and Smn+/− mice develop symptoms strikingly similar to SMA (Jablonka et al. 2002).”