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Bell, Graeme
One or more keywords matched the following items that are connected to Bell, Graeme
Item TypeName
Concept Amino Acid Substitution
Academic Article 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.
Academic Article Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome.
Academic Article Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes.
Academic Article Gene symbol: IPF1. Disease: MODY 4.
Academic Article Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.
Academic Article Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Academic Article 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.
Academic Article 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.
Academic Article Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
Academic Article Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
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  • Amino Acid Substitution