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  4. Graeme Bell

Graeme Bell

Professor
gb11@uchicago.edu
Research Summary
Dr. Bell's research program focuses on the genetics of diabetes and other metabolic disorders.
Keywords
Genetics of diabetes, Insulin mutations and diabetes
Education
  • University of Calgary, Calgary, Canada, B.Sc. Zoology 06/1968
  • University of Calgary, Calgary, Canada, M.Sc. Biology 06/1971
  • University of California San Francisco, San Francisco, Ph.D. Biochemistry 01/1977
Biosciences Graduate Program Association
Awards & Honors
  • 1998 - National Academy of Medicine
  • 2008 - American Academy of Arts and Sciences
  • 2011 - Fellow of the American Association of the Advancement of Science
  • 2012 - Manpei Suzuki International Prize for Diabetes Research
  • 2013 - The Banting Medal for Scientific Achievement of the American Diabetes Association
  • 2016 - Pres Kovler Family Distinguished Service Professor The University of Chicago
Publications

  1. Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry. Front Clin Diabetes Healthc. 2021 Nov; 2. View in: PubMed

  2. In celebration of a century with insulin - Update of insulin gene mutations in diabetes. Mol Metab. 2021 10; 52:101280. View in: PubMed

  3. Exome sequencing of 20,791?cases of type 2 diabetes and 24,440?controls. Nature. 2019 06; 570(7759):71-76. View in: PubMed

  4. Deep tubewell microbial water quality and access in arsenic mitigation programs in rural Bangladesh. Sci Total Environ. 2019 Apr 01; 659:1577-1584. View in: PubMed

  5. A One Health investigation of Salmonella enterica serovar Wangata in north-eastern New South Wales, Australia, 2016-2017. Epidemiol Infect. 2019 01; 147:e150. View in: PubMed

  6. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 04 01; 28(7):1212-1224. View in: PubMed

  7. Femtosecond laser desorption ionization mass spectrometry imaging and multivariate analysis of lipids in pancreatic tissue. Biointerphases. 2018 04 02; 13(3):03B416. View in: PubMed

  8. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2018 01 23; 5:180002. View in: PubMed

  9. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. Proc Natl Acad Sci U S A. 2018 01 09; 115(2):379-384. View in: PubMed

  10. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2017 12 19; 4:170179. View in: PubMed

  11. Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. Am J Respir Cell Mol Biol. 2018 03; 58(3):391-401. View in: PubMed

  12. A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Diabetes. 2017 11; 66(11):2903-2914. View in: PubMed

  13. In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin). Diabetologia. 2017 08; 60(8):1423-1431. View in: PubMed

  14. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes. 2017 07; 66(7):2019-2032. View in: PubMed

  15. The genetic architecture of type 2 diabetes. Nature. 2016 08 04; 536(7614):41-47. View in: PubMed

  16. Beyond type 2 diabetes, obesity and hypertension: an axis including sleep apnea, left ventricular hypertrophy, endothelial dysfunction, and aortic stiffness among Mexican Americans in Starr County, Texas. Cardiovasc Diabetol. 2016 Jun 08; 15:86. View in: PubMed

  17. Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. Am J Respir Crit Care Med. 2016 Oct 01; 194(7):886-897. View in: PubMed

  18. Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms. Hum Mol Genet. 2016 05 15; 25(10):2070-2081. View in: PubMed

  19. Resting beta-cells?-?A functional reserve? Diabetes Metab. 2016 Jun; 42(3):157-61. View in: PubMed

  20. Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas. PLoS One. 2015; 10(11):e0142130. View in: PubMed

  21. Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism. J Med Genet. 2015 Sep; 52(9):612-6. View in: PubMed

  22. Systemic alterations in the metabolome of diabetic NOD mice delineate increased oxidative stress accompanied by reduced inflammation and hypertriglyceremia. Am J Physiol Endocrinol Metab. 2015 Jun 01; 308(11):E978-89. View in: PubMed

  23. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PLoS Genet. 2015 Jan; 11(1):e1004876. View in: PubMed

  24. Donald F. Steiner MD, 1930-2014: discoverer of proinsulin. Proc Natl Acad Sci U S A. 2015 Jan 27; 112(4):940-1. View in: PubMed

  25. Evidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice. Hum Mol Genet. 2015 Mar 15; 24(6):1646-54. View in: PubMed

  26. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014 Jun 11; 311(22):2305-14. View in: PubMed

  27. Localization of hepatocyte nuclear factor-4a in the nucleolus and nucleus is regulated by its C-terminus. J Diabetes Investig. 2012 Oct 18; 3(5):449-56. View in: PubMed

  28. Genetics and pathophysiology of neonatal diabetes mellitus. J Diabetes Investig. 2011 Jun 05; 2(3):158-69. View in: PubMed

  29. Role of BH3-only molecules Bim and Puma in ?-cell death in Pdx1 deficiency. Diabetes. 2014 Aug; 63(8):2744-50. View in: PubMed

  30. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet. 2014 Mar; 46(3):234-44. View in: PubMed

  31. Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 2014 Feb; 196(2):557-67. View in: PubMed

  32. Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 2014 Feb; 196(2):539-55. View in: PubMed

  33. 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. View in: PubMed

  34. Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications. Diabetes Care. 2014; 37(1):202-9. View in: PubMed

  35. GSK-3? function in bone regulates skeletal development, whole-body metabolism, and male life span. Endocrinology. 2013 Oct; 154(10):3702-18. View in: PubMed

  36. Enhancing pancreatic Beta-cell regeneration in vivo with pioglitazone and alogliptin. PLoS One. 2013; 8(6):e65777. View in: PubMed

  37. In vitro scan for enhancers at the TCF7L2 locus. Diabetologia. 2013 Jan; 56(1):121-5. View in: PubMed

  38. Exome sequencing and genetic testing for MODY. PLoS One. 2012; 7(5):e38050. View in: PubMed

  39. An in vivo cis-regulatory screen at the type 2 diabetes associated TCF7L2 locus identifies multiple tissue-specific enhancers. PLoS One. 2012; 7(5):e36501. View in: PubMed

  40. Three Strikes and You're Cured. Sci Transl Med. 2012 May 09; 4(133):133fs12. View in: PubMed

  41. Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians. West Indian Med J. 2011 Dec; 60(6):604-7. View in: PubMed

  42. Intrapancreatic delivery of human umbilical cord blood aldehyde dehydrogenase-producing cells promotes islet regeneration. Diabetologia. 2012 Jun; 55(6):1755-60. View in: PubMed

  43. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep. 2011 Dec; 11(6):519-32. View in: PubMed

  44. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011 Aug; 34(8):1878-84. View in: PubMed

  45. Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism. Genome Res. 2011 Sep; 21(9):1417-25. View in: PubMed

  46. Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals. Diabetologia. 2011 Aug; 54(8):2047-55. View in: PubMed

  47. Onset features and subsequent clinical evolution of childhood diabetes over several years. Pediatr Diabetes. 2011 Jun; 12(4 Pt 1):326-34. View in: PubMed

  48. HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes. Pediatr Diabetes. 2011 Jun; 12(4 Pt 2):388-95. View in: PubMed

  49. The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes. Diabetes Care. 2011 Mar; 34(3):622-7. View in: PubMed

  50. Seeing is believing: how the MIP-luc mouse can advance the field of islet transplantation and ?-cell regeneration. Islets. 2010 Jul-Aug; 2(4):261-2. View in: PubMed

  51. Impaired insulin secretion in transgenic mice over-expressing calpastatin in pancreatic ?-cells. Islets. 2009 Nov-Dec; 1(3):242-8. View in: PubMed

  52. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord. 2010 Sep; 11(3):205-15. View in: PubMed

  53. Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas. J Ophthalmol. 2010; 2010. View in: PubMed

  54. 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. View in: PubMed

  55. Neonatal diabetes mellitus: a model for personalized medicine. Trends Endocrinol Metab. 2010 Aug; 21(8):464-72. View in: PubMed

  56. Calpain-10 is a component of the obesity-related quantitative trait locus Adip1. J Lipid Res. 2010 May; 51(5):907-13. View in: PubMed

  57. Glycemic control promotes pancreatic beta-cell regeneration in streptozotocin-induced diabetic mice. PLoS One. 2010 Jan 18; 5(1):e8749. View in: PubMed

  58. 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. View in: PubMed

  59. Update in neonatal diabetes. Curr Opin Endocrinol Diabetes Obes. 2010 Feb; 17(1):13-9. View in: PubMed

  60. 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. View in: PubMed

  61. TCF7L2 variant rs7903146 affects the risk of type 2 diabetes by modulating incretin action. Diabetes. 2010 Feb; 59(2):479-85. View in: PubMed

  62. A brief perspective on insulin production. Diabetes Obes Metab. 2009 Nov; 11 Suppl 4:189-96. View in: PubMed

  63. Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome. Diabetes Res Clin Pract. 2009 Dec; 86(3):186-92. View in: PubMed

  64. The oligogenic view of adaptation. Cold Spring Harb Symp Quant Biol. 2009; 74:139-44. View in: PubMed

  65. 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. View in: PubMed

  66. Noninvasive monitoring of changes in pancreatic beta-cell mass by bioluminescent imaging in MIP-luc transgenic mice. Horm Metab Res. 2009 Jan; 41(1):1-4. View in: PubMed

  67. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes. 2008 Oct; 9(5):450-9. View in: PubMed

  68. Mutations of the human glucokinase gene and diabetes mellitus. Trends Endocrinol Metab. 1993 Apr; 4(3):86-90. View in: PubMed

  69. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr; 57(4):1131-5. View in: PubMed

  70. 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. View in: PubMed

  71. Calpain-10 gene and protein expression in human skeletal muscle: effect of acute lipid-induced insulin resistance and type 2 diabetes. J Clin Endocrinol Metab. 2008 Mar; 93(3):992-8. View in: PubMed

  72. Sustained expression of hepatocyte nuclear factor-6 leads to loss of pancreatic beta-cells by apoptosis. Exp Clin Endocrinol Diabetes. 2007 Nov; 115(10):654-61. View in: PubMed

  73. Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). Diabetologia. 2007 Dec; 50(12):2600-1. View in: PubMed

  74. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18; 104(38):15040-4. View in: PubMed

  75. Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies. Diabetes. 2007 Dec; 56(12):3033-44. View in: PubMed

  76. Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):174-84. View in: PubMed

  77. Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes. Diabetologia. 2006 Jul; 49(7):1560-6. View in: PubMed

  78. Core transcriptional regulatory circuitry in human hepatocytes. Mol Syst Biol. 2006; 2:2006.0017. View in: PubMed

  79. Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care. 2006 Jun; 29(6):1458. View in: PubMed

  80. From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 2006 Jun; 55(6):1713-22. View in: PubMed

  81. Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006 May; 49(5):1106-8. View in: PubMed

  82. Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10. Diabetes. 2005 Dec; 54(12):3573-6. View in: PubMed

  83. The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population. Diabetologia. 2005 Oct; 48(10):2018-24. View in: PubMed

  84. Optical imaging of pancreatic beta cells in living mice expressing a mouse insulin I promoter-firefly luciferase transgene. Genesis. 2005 Oct; 43(2):80-6. View in: PubMed

  85. Gene symbol: IPF1. Disease: MODY 4. Hum Genet. 2005 May; 116(6):538. View in: PubMed

  86. Anti-diabetic effect of ginsenoside Re in ob/ob mice. Biochim Biophys Acta. 2005 Jun 10; 1740(3):319-25. View in: PubMed

  87. Imaging Beta cell development in real-time using pancreatic explants from mice with green fluorescent protein-labeled pancreatic Beta cells. In Vitro Cell Dev Biol Anim. 2005 Jan-Feb; 41(1-2):7-11. View in: PubMed

  88. 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. View in: PubMed

  89. 5-amino-imidazole carboxamide riboside acutely potentiates glucose-stimulated insulin secretion from mouse pancreatic islets by KATP channel-dependent and -independent pathways. Biochem Biophys Res Commun. 2005 May 20; 330(4):1073-9. View in: PubMed

  90. Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population. J Hum Genet. 2005; 50(2):92-98. View in: PubMed

  91. Dual promoter structure of ZFP106: regulation by myogenin and nuclear respiratory factor-1. Gene. 2005 Jan 03; 344:143-59. View in: PubMed

  92. 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. View in: PubMed

  93. Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25. Diabetes. 2004 Oct; 53(10):2676-83. View in: PubMed

  94. Remifentanil vs fentanyl/morphine for pain and stress control during pediatric cardiac surgery. Paediatr Anaesth. 2004 Oct; 14(10):856-60. View in: PubMed

  95. Epilepsy in the United Kingdom: seizure frequency and severity, anti-epileptic drug utilization and impact on life in 1652 people with epilepsy. Seizure. 2004 Sep; 13(6):425-33. View in: PubMed

  96. Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2004 Jun; 89(6):2973-6. View in: PubMed

  97. Genome-wide scan for type 2 diabetes loci in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25. Diabetes. 2004 Jun; 53(6):1609-13. View in: PubMed

  98. RyR2 and calpain-10 delineate a novel apoptosis pathway in pancreatic islets. J Biol Chem. 2004 Jun 04; 279(23):24794-802. View in: PubMed

  99. Calpain system regulates muscle mass and glucose transporter GLUT4 turnover. J Biol Chem. 2004 May 14; 279(20):20915-20. View in: PubMed

  100. Control of pancreas and liver gene expression by HNF transcription factors. Science. 2004 Feb 27; 303(5662):1378-81. View in: PubMed

  101. 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. View in: PubMed

  102. Linkage of calpain 10 to type 2 diabetes: the biological rationale. Diabetes. 2004 Feb; 53 Suppl 1:S19-25. View in: PubMed

  103. Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population. Mol Genet Metab. 2004 Feb; 81(2):122-6. View in: PubMed

  104. Persistence of two genotypes of Neisseria gonorrhoeae during transmission. J Clin Microbiol. 2003 Dec; 41(12):5609-14. View in: PubMed

  105. Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy. J Diabetes Complications. 2003 Nov-Dec; 17(6):369-73. View in: PubMed

  106. Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet. 2003 Nov; 73(5):1208-12. View in: PubMed

  107. Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia. Arterioscler Thromb Vasc Biol. 2003 Nov 01; 23(11):2070-7. View in: PubMed

  108. A 48-hour exposure of pancreatic islets to calpain inhibitors impairs mitochondrial fuel metabolism and the exocytosis of insulin. Metabolism. 2003 May; 52(5):528-34. View in: PubMed

  109. Organ alchemy: producing insulin in the liver. Nat Med. 2003 May; 9(5):504-5. View in: PubMed

  110. Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia. Circ Res. 2003 Mar 21; 92(5):569-76. View in: PubMed

  111. Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects. Diabetes. 2003 Jan; 52(1):209-13. View in: PubMed

  112. Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians. Diabetes. 2002 Dec; 51(12):3561-7. View in: PubMed

  113. Transgenic mice with green fluorescent protein-labeled pancreatic beta -cells. Am J Physiol Endocrinol Metab. 2003 Jan; 284(1):E177-83. View in: PubMed

  114. 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. View in: PubMed

  115. Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Jun; 87(6):2606-10. View in: PubMed

  116. Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Apr; 87(4):1669-73. View in: PubMed

  117. Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet. 2002 May; 70(5):1096-106. View in: PubMed

  118. Nuclear translocation of SHP and visualization of interaction with HNF-4alpha in living cells. Biochem Biophys Res Commun. 2002 Mar 22; 292(1):8-12. View in: PubMed

  119. Nomenclature of the GLUT/SLC2A family of sugar/polyol transport facilitators. Am J Physiol Endocrinol Metab. 2002 Apr; 282(4):E974-6. View in: PubMed

  120. Structure and transcription of the human m3 muscarinic receptor gene. Am J Respir Cell Mol Biol. 2002 Mar; 26(3):298-305. View in: PubMed

  121. Improved glucose tolerance and insulin sensitivity after electrical stimulation-assisted cycling in people with spinal cord injury. Spinal Cord. 2002 Mar; 40(3):110-7. View in: PubMed

  122. Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes. 2002 Jan; 51(1):247-50. View in: PubMed

  123. Diabetes mellitus and genetically programmed defects in beta-cell function. Nature. 2001 Dec 13; 414(6865):788-91. View in: PubMed

  124. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001 Sep 27; 345(13):971-80. View in: PubMed

  125. Calpains play a role in insulin secretion and action. Diabetes. 2001 Sep; 50(9):2013-20. View in: PubMed

  126. Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet. 2001 Sep; 69(3):544-52. View in: PubMed

  127. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001 May 24; 344(21):1588-92. View in: PubMed

  128. Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young. J Hum Genet. 2001; 46(5):285-8. View in: PubMed

  129. Reduced skeletal muscle calpain-10 transcript level is due to a cumulative decrease in major isoforms. Mol Genet Metab. 2001 May; 73(1):111-3. View in: PubMed

  130. 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. View in: PubMed

  131. NHS services for epilepsy from the patient's perspective: a survey of primary, secondary and tertiary care access throughout the UK. Seizure. 2000 Dec; 9(8):559-65. View in: PubMed

  132. Patients' perspectives on services for epilepsy: a survey of patient satisfaction, preferences and information provision in 2394 people with epilepsy. Seizure. 2000 Dec; 9(8):551-8. View in: PubMed

  133. Evidence that insulin is imprinted in the human yolk sac. Diabetes. 2001 Jan; 50(1):199-203. View in: PubMed

  134. Disturbance and diversity in experimental microcosms. Nature. 2000 Dec 21-28; 408(6815):961-4. View in: PubMed

  135. A prospective social and molecular investigation of gonococcal transmission. Lancet. 2000 Nov 25; 356(9244):1812-7. View in: PubMed

  136. 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. View in: PubMed

  137. A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J Clin Invest. 2000 Oct; 106(7):R69-73. View in: PubMed

  138. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet. 2000 Oct; 26(2):163-75. View in: PubMed

  139. No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY. Diabetologia. 2000 Aug; 43(8):1064-9. View in: PubMed

  140. Diversity peaks at intermediate productivity in a laboratory microcosm. Nature. 2000 Aug 03; 406(6795):508-12. View in: PubMed

  141. Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. FEBS Lett. 2000 Aug 11; 479(1-2):41-5. View in: PubMed

  142. A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene. Diabetologia. 2000 Jun; 43(6):818-9. View in: PubMed

  143. 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. View in: PubMed

  144. 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. View in: PubMed

  145. 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. View in: PubMed

  146. Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report. Prenat Diagn. 2000 May; 20(5):417-21. View in: PubMed

  147. Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH. Eur J Hum Genet. 2000 Mar; 8(3):223-8. View in: PubMed

  148. Purification of multiple heat shock proteins from a single tumor sample. J Immunol Methods. 2000 Apr 03; 237(1-2):119-30. View in: PubMed

  149. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int. 2000 Mar; 57(3):898-907. View in: PubMed

  150. Diabetes, dependence, asymptotics, selection and significance. Nat Genet. 1997 Oct; 17(2):148. View in: PubMed

  151. Identification of gestationally regulated genes in rat myometrium by use of messenger ribonucleic acid differential display. Am J Obstet Gynecol. 1997 Sep; 177(3):645-52. View in: PubMed

  152. 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. View in: PubMed

  153. Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes. 1997 Sep; 46(9):1504-8. View in: PubMed

  154. Changes in pancreatic islet glucokinase and hexokinase activities with increasing age, obesity, and the onset of diabetes. Diabetes. 1997 Sep; 46(9):1434-9. View in: PubMed

  155. Activation of human somatostatin receptor type 2 causes inhibition of cell growth in transfected HEK293 but not in transfected CHO cells. J Surg Res. 1997 Jul 15; 71(1):13-8. View in: PubMed

  156. Increase in serum leptin and uterine leptin receptor messenger RNA levels during pregnancy in rats. Biochem Biophys Res Commun. 1997 Aug 18; 237(2):476-80. View in: PubMed

  157. The advantage of sex in evolving yeast populations. Nature. 1997 Jul 31; 388(6641):465-8. View in: PubMed

  158. The 31-cM region of chromosome 11 including the obesity gene tubby and ATP-sensitive potassium channel genes, SUR1 and Kir6.2, does not contain a major susceptibility locus for NIDDM in 127 non-Hispanic white affected sibships. Diabetes. 1997 Jul; 46(7):1227-9. View in: PubMed

  159. Cloning and characterization of exodus, a novel beta-chemokine. Blood. 1997 May 01; 89(9):3315-22. View in: PubMed

  160. Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM. Diabetologia. 1997 Apr; 40(4):473-5. View in: PubMed

  161. 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. View in: PubMed

  162. 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. View in: PubMed

  163. 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. View in: PubMed

  164. 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. View in: PubMed

  165. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997 Feb; 40(2):217-24. View in: PubMed

  166. Skeletal muscle fibre type transformation following spinal cord injury. Spinal Cord. 1997 Feb; 35(2):86-91. View in: PubMed

  167. 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. View in: PubMed

  168. Increased expression of endothelin B receptor mRNA following subarachnoid hemorrhage in monkeys. J Cereb Blood Flow Metab. 1996 Jul; 16(4):688-97. View in: PubMed

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