Graeme Bell to Mutation
This is a "connection" page, showing publications Graeme Bell has written about Mutation.
Connection Strength
1.682
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Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006 May; 49(5):1106-8.
Score: 0.126
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Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. J Clin Endocrinol Metab. 2004 Feb; 89(2):971-8.
Score: 0.109
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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: 0.089
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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. Diabetes. 2000 Nov; 49(11):1955-7.
Score: 0.087
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A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene. Diabetologia. 2000 Jun; 43(6):818-9.
Score: 0.085
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Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. J Clin Invest. 1997 Sep 15; 100(6):1400-5.
Score: 0.070
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The length distribution of perfect dimer repetitive DNA is consistent with its evolution by an unbiased single-step mutation process. J Mol Evol. 1997 Apr; 44(4):414-21.
Score: 0.068
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Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes. 1997 Mar; 46(3):528-35.
Score: 0.067
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Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature. 1996 Dec 05; 384(6608):455-8.
Score: 0.066
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Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) Nature. 1996 Dec 05; 384(6608):458-60.
Score: 0.066
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Glucokinase mutations, insulin secretion, and diabetes mellitus. Annu Rev Physiol. 1996; 58:171-86.
Score: 0.062
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Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism. J Med Genet. 2015 Sep; 52(9):612-6.
Score: 0.060
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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep. 2011 Dec; 11(6):519-32.
Score: 0.047
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Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord. 2010 Sep; 11(3):205-15.
Score: 0.043
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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: 0.041
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In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes. Am J Physiol Endocrinol Metab. 2010 Mar; 298(3):E403-10.
Score: 0.041
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The oligogenic view of adaptation. Cold Spring Harb Symp Quant Biol. 2009; 74:139-44.
Score: 0.040
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Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr; 57(4):1131-5.
Score: 0.036
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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: 0.036
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From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 2006 Jun; 55(6):1713-22.
Score: 0.032
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Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathway. Int J Biochem Cell Biol. 2005 Jul; 37(7):1421-37.
Score: 0.030
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In celebration of a century with insulin - Update of insulin gene mutations in diabetes. Mol Metab. 2021 10; 52:101280.
Score: 0.023
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Reduced pancreatic polypeptide response to hypoglycemia and amylin response to arginine in subjects with a mutation in the HNF-4alpha/MODY1 gene. Diabetes. 2000 Jun; 49(6):961-8.
Score: 0.021
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Nature or nurture: an insightful illustration from a Chinese family with hepatocyte nuclear factor-1 alpha diabetes (MODY3) Diabetologia. 2000 Jun; 43(6):816-8.
Score: 0.021
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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. Diabetes. 2000 Feb; 49(2):302-5.
Score: 0.021
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The advantage of sex in evolving yeast populations. Nature. 1997 Jul 31; 388(6641):465-8.
Score: 0.017
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Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. 1997 Apr; 46(4):720-5.
Score: 0.017
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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. Diabetes. 1997 Apr; 46(4):726-30.
Score: 0.017
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Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet. 1997 Apr; 6(4):583-6.
Score: 0.017
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Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997 Feb; 40(2):217-24.
Score: 0.017
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Sex and the spread of retrotransposon Ty3 in experimental populations of Saccharomyces cerevisiae. Genetics. 1996 Aug; 143(4):1567-77.
Score: 0.016
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Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity. Diabetologia. 1995 Dec; 38(12):1466-74.
Score: 0.015
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Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes. 1995 Jun; 44(6):699-704.
Score: 0.015
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No evidence for mutations in a putative beta-cell ATP-sensitive K+ channel subunit in MODY, NIDDM, or GDM. Diabetes. 1995 May; 44(5):597-600.
Score: 0.015
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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. Acta Diabetol. 1995 Mar; 32(1):17-22.
Score: 0.015
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The population association of glucokinase gene with type 2 (noninsulin-dependent) diabetes mellitus in Chinese. Chin Med J (Engl). 1995 Jan; 108(1):5-9.
Score: 0.015
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Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest. 1994 Mar; 93(3):1120-30.
Score: 0.014
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Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 2014 Feb; 196(2):539-55.
Score: 0.013
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Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 2014 Feb; 196(2):557-67.
Score: 0.013
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Exome sequencing and genetic testing for MODY. PLoS One. 2012; 7(5):e38050.
Score: 0.012
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Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992 Apr 23; 356(6371):721-2.
Score: 0.012
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Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. Transl Res. 2010 Jul; 156(1):7-14.
Score: 0.010
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Update in neonatal diabetes. Curr Opin Endocrinol Diabetes Obes. 2010 Feb; 17(1):13-9.
Score: 0.010
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Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies. Diabetes. 2007 Dec; 56(12):3033-44.
Score: 0.009
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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: 0.008
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Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001 Sep 27; 345(13):971-80.
Score: 0.006
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Diabetes, dependence, asymptotics, selection and significance. Nat Genet. 1997 Oct; 17(2):148.
Score: 0.004
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Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. Diabetologia. 1995 Sep; 38(9):1055-60.
Score: 0.004
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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. Mol Pharmacol. 1993 Aug; 44(2):380-4.
Score: 0.003