Graeme Bell to Amino Acid Substitution
This is a "connection" page, showing publications Graeme Bell has written about Amino Acid Substitution.
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.
Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006 May; 49(5):1106-8.
Gene symbol: IPF1. Disease: MODY 4. Hum Genet. 2005 May; 116(6):538.
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.
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.
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.
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.
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.
Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care. 2006 Jun; 29(6):1458.
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.