Graeme Bell to Amino Acid Substitution
This is a "connection" page, showing publications Graeme Bell has written about Amino Acid Substitution.
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0.397
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Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted. Biochem Biophys Res Commun. 2010 Jan 15; 391(3):1449-54.
Score: 0.083
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Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006 May; 49(5):1106-8.
Score: 0.064
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Gene symbol: IPF1. Disease: MODY 4. Hum Genet. 2005 May; 116(6):538.
Score: 0.060
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Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Sep; 87(9):4297-300.
Score: 0.050
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Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes. 2001 Mar; 50(3):694-6.
Score: 0.045
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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May; 15(3):252-6.
Score: 0.027
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Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance. Diabetes. 2009 Aug; 58(8):1869-78.
Score: 0.020
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Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008 Apr; 57(4):1034-42.
Score: 0.018
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Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care. 2006 Jun; 29(6):1458.
Score: 0.016
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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2004 Oct; 53(10):2713-8.
Score: 0.014