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Bell, Graeme

One or more keywords matched the following properties of Bell, Graeme

Property	Value
keywords	Insulin mutations and diabetes

One or more keywords matched the following items that are connected to Bell, Graeme

Item Type	Name
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Concept	Frameshift Mutation
Academic Article	Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase.
Academic Article	Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity.
Academic Article	Glucokinase mutations, insulin secretion, and diabetes mellitus.
Academic Article	Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
Academic Article	Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
Academic Article	Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
Academic Article	Diabetes, dependence, asymptotics, selection and significance.
Academic Article	Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption.
Academic Article	Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Academic Article	Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Academic Article	Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.
Academic Article	Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
Academic Article	Nature or nurture: an insightful illustration from a Chinese family with hepatocyte nuclear factor-1 alpha diabetes (MODY3)
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	Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
Academic Article	beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.
Academic Article	A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene.
Academic Article	Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.
Academic Article	Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome.
Academic Article	Reduced pancreatic polypeptide response to hypoglycemia and amylin response to arginine in subjects with a mutation in the HNF-4alpha/MODY1 gene.
Academic Article	Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1.
Academic Article	Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young.
Academic Article	Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young.
Academic Article	Neonatal diabetes mellitus due to complete glucokinase deficiency.
Academic Article	No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY.
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 gene mutations as a cause of permanent neonatal diabetes.
Academic Article	Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).
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	Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathway.
Academic Article	Update in neonatal diabetes.
Academic Article	From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
Academic Article	Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.
Academic Article	Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
Academic Article	Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
Academic Article	Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians.
Academic Article	Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes.
Academic Article	Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects.
Academic Article	Compensation in pancreatic beta-cell function in subjects with glucokinase mutations.
Academic Article	Mutation of an aspartate at residue 89 in somatostatin receptor subtype 2 prevents Na+ regulation of agonist binding but does not alter receptor-G protein association.
Academic Article	Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.
Academic Article	Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.
Academic Article	No evidence for mutations in a putative beta-cell ATP-sensitive K+ channel subunit in MODY, NIDDM, or GDM.
Academic Article	Clinical characteristics of subjects with a missense mutation in glucokinase.
Academic Article	Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects.
Academic Article	Mutations of the human glucokinase gene and diabetes mellitus.
Academic Article	The population association of glucokinase gene with type 2 (noninsulin-dependent) diabetes mellitus in Chinese.
Academic Article	In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.
Academic Article	Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
Academic Article	Exome sequencing and genetic testing for MODY.
Academic Article	Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Academic Article	Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Academic Article	Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.
Academic Article	Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies.
Academic Article	Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Academic Article	Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20.
Academic Article	Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family.
Academic Article	The length distribution of perfect dimer repetitive DNA is consistent with its evolution by an unbiased single-step mutation process.
Academic Article	The advantage of sex in evolving yeast populations.
Academic Article	The oligogenic view of adaptation.
Academic Article	Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Academic Article	Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin.
Academic Article	Sex and the spread of retrotransposon Ty3 in experimental populations of Saccharomyces cerevisiae.
Academic Article	Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin.
Academic Article	Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
Academic Article	Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.
Academic Article	In celebration of a century with insulin - Update of insulin gene mutations in diabetes.

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