Research Topics
| Stefan S FajansSummaryAffiliation: University of Michigan Country: USA Publications
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Detail Information
Publications
Insufficient sensitivity of hemoglobin A(₁C) determination in diagnosis or screening of early diabetic statesStefan S Fajans
Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan Health System, Ann Arbor, MI 48106, USA
Metabolism 60:86-91. 2011..A combination of A1C and plasma glucose determinations, where necessary, is recommended for diagnosis or screening of diabetes or IGT...
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60Stefan S Fajans
Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Health System, Ann Arbor, MI 48105 9484, USA
Transl Res 156:7-14. 2010..Genetic testing should be considered in multigenerational obese diabetic subjects, particularly when such families contain young diabetic members...
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngS S Fajans
Department of Internal Medicine, University of Michigan Health System, Ann Arbor, USA
N Engl J Med 345:971-80. 2001
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutationInas H Thomas
Department of Pediatrics and Communicable Diseases, Division of Pediatric Endocrinology, University of Michigan Health Center, Ann Arbor, MI 48109, USA
Pediatr Diabetes 10:492-6. 2009..This is the second reported case of neonatal diabetes mellitus secondary to a homozygous mutation in the IPF-1 gene and supports the previously proposed biological role of IPF-1 in the pancreatic development in human...
Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4alpha/MODY1 geneW H Herman
Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor 48109 0354, USA
Diabetes 46:1749-54. 1997..The decrease in glucagon AUC and decreased suppression of glucagon AUC with hyperglycemia suggest that mutations in HNF-4alpha may lead to alpha-cell as well as beta-cell secretory defects or a reduction in pancreatic islet mass...
Hemoglobin A1c for the diagnosis of diabetes: practical considerationsWilliam H Herman
Department of Internal Medicine, University of Michigan, Michigan, USA
Pol Arch Med Wewn 120:37-40. 2010..Combining the use of HbA1c and plasma glucose measurements for the diagnosis of diabetes offers the benefits of each test and reduces the risk of systematic bias inherent in HbA1c testing alone...
Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the youngS S Fajans
Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor
Diabetes Care 16:1254-61. 1993..To ascertain whether the effect of sulfonylureas on glucose-mediated insulin release persists for years to decades in patients with maturity-onset diabetes of the young...
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)K Yamagata
Howard Hughes Medical Institute, The University of Chicago, Illinois 60637, USA
Nature 384:455-8. 1996..HNF-1alpha is a transcription factor that helps in the tissue-specific regulation of the expression of several liver genes and also functions as a weak transactivator of the rat insulin-I gene...
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)K Yamagata
Howard Hughes Medical Institute, The University of Chicago, Illinois 60637, USA
Nature 384:458-60. 1996..Here we show that MODY1 is the gene encoding HNF-4alpha (gene symbol, TCF14), a member of the steroid/thyroid hormone receptor superfamily and an upstream regulator of HNF-1alpha expression...
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related geneM Stoffel
Howard Hughes Medical Institute, University of Chicago, IL 60637, USA
Proc Natl Acad Sci U S A 93:3937-41. 1996..The myeloid tumor suppressor gene was localized to an 18-centimorgan interval (approximately equal to 13 Mb) between RPN2 and D20S17. This physical map will facilitate the isolation of MODY1 and the myeloid tumor suppressor gene...
Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitusC B Rothschild
Department of Biochemistry, Bowman Gray School of Medicine, Wake Forest University, Winston Salem, North Carolina 27157, USA
Genomics 29:187-94. 1995..Although FBP is a rate-limiting enzyme in gluconeogenesis, using both parametric and nonparametric analysis there was no evidence for linkage of FBP to diabetes in these families...
Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigreesS S Fajans
Diabetologia 49:1106-8. 2006
Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20qG I Bell
Howard Hughes Medical Institute, University of Chicago, IL 60637
Proc Natl Acad Sci U S A 88:1484-8. 1991..25 at a recombination fraction of 0.00. These results indicate that the odds are greater than 178,000:1 that the gene responsible for MODY in this family is tightly linked to the ADA gene on chromosome 20q...
A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: identification, mapping, and linkage to the MODY locus on chromosome 20C B Rothschild
Department of Biochemistry, Bowman Gray School of Medicine, Winston Salem, North Carolina 27157
Genomics 13:560-4. 1992..2 and 6.6 cM, respectively, from these loci (sex-averaged distances). In addition, the PLC1 gene shows linkage to the maturity-onset diabetes of the young (MODY) locus on chromosome 20 with a lod score of 4.57 at theta = 0.089...
